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dbSNP Short Genetic Variations

Welcome to the Reference SNP (rs) Report

All alleles are reported in the Forward orientation. Click on the Variant Details tab for details on Genomic Placement, Gene, and Amino Acid changes. HGVS names are in the HGVS tab.

Reference SNP (rs) Report

This page reports data for a single dbSNP Reference SNP variation (RefSNP or rs) from the new redesigned dbSNP build.
Top of the page reports a concise summary for the rs, with more specific details included in the corresponding tabs below.
All alleles are reported in the Forward orientation. Use the Genomic View to inspect the nucleotides flanking the variant, and its neighbors.
For more information see Help documentation.

rs782262041

Current Build 156

Released September 21, 2022

Organism
Homo sapiens
Position
chrX:48458659-48458695 (GRCh38.p14) Help

The anchor position for this RefSNP. Includes all nucleotides potentially affected by this change, thus it can differ from HGVS, which is right-shifted. See here for details.

Alleles
del(CTC)7 / del(CTC)6 / del(CTC)5

del(CTC)7 / del(CTC)6 / del(CTC)5 / del(CTC)4 / del(CTC)3 / del(CTC)2 / delCTC / dupCTC / dup(CTC)2 / dup(CTC)3 / dup(CTC)4 / dup(CTC)5 / dup(CTC)6 / dup(CTC)7

Variation Type
Indel Insertion and Deletion
Frequency
dupCTC=0.4447 (3115/7004, ALFA)
Clinical Significance
Not Reported in ClinVar
Gene : Consequence
SLC38A5 : Inframe Deletion
Publications
0 citations
Genomic View
See rs on genome

ALFA Allele Frequency
The ALFA project provide aggregate allele frequency from dbGaP. More information is available on the project page including descriptions, data access, and terms of use.

Release Version: 20231103111315
Population Group Sample Size Ref Allele Alt Allele Ref HMOZ Alt HMOZ HTRZ HWEP
Total Global 7004 CCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTC=0.4764 CCTCCTCCTCCTCCTC=0.0000, CCTCCTCCTCCTCCTCCTC=0.0000, CCTCCTCCTCCTCCTCCTCCTC=0.0000, CCTCCTCCTCCTCCTCCTCCTCCTC=0.0000, CCTCCTCCTCCTCCTCCTCCTCCTCCTC=0.0000, CCTCCTCCTCCTCCTCCTCCTCCTCCTCCTC=0.0001, CCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTC=0.0016, CCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTC=0.4447, CCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTC=0.0665, CCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTC=0.0096, CCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTC=0.0010 0.484068 0.427744 0.088188 32
European Sub 5950 CCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTC=0.3847 CCTCCTCCTCCTCCTC=0.0000, CCTCCTCCTCCTCCTCCTC=0.0000, CCTCCTCCTCCTCCTCCTCCTC=0.0000, CCTCCTCCTCCTCCTCCTCCTCCTC=0.0000, CCTCCTCCTCCTCCTCCTCCTCCTCCTC=0.0000, CCTCCTCCTCCTCCTCCTCCTCCTCCTCCTC=0.0002, CCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTC=0.0018, CCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTC=0.5225, CCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTC=0.0783, CCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTC=0.0113, CCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTC=0.0012 0.379845 0.513953 0.106202 32
African Sub 612 CCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTC=1.000 CCTCCTCCTCCTCCTC=0.000, CCTCCTCCTCCTCCTCCTC=0.000, CCTCCTCCTCCTCCTCCTCCTC=0.000, CCTCCTCCTCCTCCTCCTCCTCCTC=0.000, CCTCCTCCTCCTCCTCCTCCTCCTCCTC=0.000, CCTCCTCCTCCTCCTCCTCCTCCTCCTCCTC=0.000, CCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTC=0.000, CCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTC=0.000, CCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTC=0.000, CCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTC=0.000, CCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTC=0.000 1.0 0.0 0.0 N/A
African Others Sub 30 CCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTC=1.00 CCTCCTCCTCCTCCTC=0.00, CCTCCTCCTCCTCCTCCTC=0.00, CCTCCTCCTCCTCCTCCTCCTC=0.00, CCTCCTCCTCCTCCTCCTCCTCCTC=0.00, CCTCCTCCTCCTCCTCCTCCTCCTCCTC=0.00, CCTCCTCCTCCTCCTCCTCCTCCTCCTCCTC=0.00, CCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTC=0.00, CCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTC=0.00, CCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTC=0.00, CCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTC=0.00, CCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTC=0.00 1.0 0.0 0.0 N/A
African American Sub 582 CCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTC=1.000 CCTCCTCCTCCTCCTC=0.000, CCTCCTCCTCCTCCTCCTC=0.000, CCTCCTCCTCCTCCTCCTCCTC=0.000, CCTCCTCCTCCTCCTCCTCCTCCTC=0.000, CCTCCTCCTCCTCCTCCTCCTCCTCCTC=0.000, CCTCCTCCTCCTCCTCCTCCTCCTCCTCCTC=0.000, CCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTC=0.000, CCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTC=0.000, CCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTC=0.000, CCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTC=0.000, CCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTC=0.000 1.0 0.0 0.0 N/A
Asian Sub 36 CCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTC=1.00 CCTCCTCCTCCTCCTC=0.00, CCTCCTCCTCCTCCTCCTC=0.00, CCTCCTCCTCCTCCTCCTCCTC=0.00, CCTCCTCCTCCTCCTCCTCCTCCTC=0.00, CCTCCTCCTCCTCCTCCTCCTCCTCCTC=0.00, CCTCCTCCTCCTCCTCCTCCTCCTCCTCCTC=0.00, CCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTC=0.00, CCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTC=0.00, CCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTC=0.00, CCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTC=0.00, CCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTC=0.00 1.0 0.0 0.0 N/A
East Asian Sub 32 CCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTC=1.00 CCTCCTCCTCCTCCTC=0.00, CCTCCTCCTCCTCCTCCTC=0.00, CCTCCTCCTCCTCCTCCTCCTC=0.00, CCTCCTCCTCCTCCTCCTCCTCCTC=0.00, CCTCCTCCTCCTCCTCCTCCTCCTCCTC=0.00, CCTCCTCCTCCTCCTCCTCCTCCTCCTCCTC=0.00, CCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTC=0.00, CCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTC=0.00, CCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTC=0.00, CCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTC=0.00, CCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTC=0.00 1.0 0.0 0.0 N/A
Other Asian Sub 4 CCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTC=1.0 CCTCCTCCTCCTCCTC=0.0, CCTCCTCCTCCTCCTCCTC=0.0, CCTCCTCCTCCTCCTCCTCCTC=0.0, CCTCCTCCTCCTCCTCCTCCTCCTC=0.0, CCTCCTCCTCCTCCTCCTCCTCCTCCTC=0.0, CCTCCTCCTCCTCCTCCTCCTCCTCCTCCTC=0.0, CCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTC=0.0, CCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTC=0.0, CCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTC=0.0, CCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTC=0.0, CCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTC=0.0 1.0 0.0 0.0 N/A
Latin American 1 Sub 32 CCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTC=1.00 CCTCCTCCTCCTCCTC=0.00, CCTCCTCCTCCTCCTCCTC=0.00, CCTCCTCCTCCTCCTCCTCCTC=0.00, CCTCCTCCTCCTCCTCCTCCTCCTC=0.00, CCTCCTCCTCCTCCTCCTCCTCCTCCTC=0.00, CCTCCTCCTCCTCCTCCTCCTCCTCCTCCTC=0.00, CCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTC=0.00, CCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTC=0.00, CCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTC=0.00, CCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTC=0.00, CCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTC=0.00 1.0 0.0 0.0 N/A
Latin American 2 Sub 218 CCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTC=1.000 CCTCCTCCTCCTCCTC=0.000, CCTCCTCCTCCTCCTCCTC=0.000, CCTCCTCCTCCTCCTCCTCCTC=0.000, CCTCCTCCTCCTCCTCCTCCTCCTC=0.000, CCTCCTCCTCCTCCTCCTCCTCCTCCTC=0.000, CCTCCTCCTCCTCCTCCTCCTCCTCCTCCTC=0.000, CCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTC=0.000, CCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTC=0.000, CCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTC=0.000, CCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTC=0.000, CCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTC=0.000 1.0 0.0 0.0 N/A
South Asian Sub 22 CCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTC=1.00 CCTCCTCCTCCTCCTC=0.00, CCTCCTCCTCCTCCTCCTC=0.00, CCTCCTCCTCCTCCTCCTCCTC=0.00, CCTCCTCCTCCTCCTCCTCCTCCTC=0.00, CCTCCTCCTCCTCCTCCTCCTCCTCCTC=0.00, CCTCCTCCTCCTCCTCCTCCTCCTCCTCCTC=0.00, CCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTC=0.00, CCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTC=0.00, CCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTC=0.00, CCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTC=0.00, CCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTC=0.00 1.0 0.0 0.0 N/A
Other Sub 134 CCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTC=0.955 CCTCCTCCTCCTCCTC=0.000, CCTCCTCCTCCTCCTCCTC=0.000, CCTCCTCCTCCTCCTCCTCCTC=0.000, CCTCCTCCTCCTCCTCCTCCTCCTC=0.000, CCTCCTCCTCCTCCTCCTCCTCCTCCTC=0.000, CCTCCTCCTCCTCCTCCTCCTCCTCCTCCTC=0.000, CCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTC=0.000, CCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTC=0.045, CCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTC=0.000, CCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTC=0.000, CCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTC=0.000 0.955224 0.044776 0.0 35


Help

Frequency tab displays a table of the reference and alternate allele frequencies reported by various studies and populations. Table lines, where Population="Global" refer to the entire study population, whereas lines, where Group="Sub", refer to a study-specific population subgroupings (i.e. AFR, CAU, etc.), if available. Frequency for the alternate allele (Alt Allele) is a ratio of samples observed-to-total, where the numerator (observed samples) is the number of chromosomes in the study with the minor allele present (found in "Sample size", where Group="Sub"), and the denominator (total samples) is the total number of all chromosomes in the study for the variant (found in "Sample size", where Group="Study-wide" and Population="Global").

Download
Study Population Group Sample Size Ref Allele Alt Allele
Allele Frequency Aggregator Total Global 7004 (CCT)12C=0.4764 del(CTC)7=0.0000, del(CTC)6=0.0000, del(CTC)5=0.0000, del(CTC)4=0.0000, del(CTC)3=0.0000, del(CTC)2=0.0001, delCTC=0.0016, dupCTC=0.4447, dup(CTC)2=0.0665, dup(CTC)3=0.0096, dup(CTC)4=0.0010
Allele Frequency Aggregator European Sub 5950 (CCT)12C=0.3847 del(CTC)7=0.0000, del(CTC)6=0.0000, del(CTC)5=0.0000, del(CTC)4=0.0000, del(CTC)3=0.0000, del(CTC)2=0.0002, delCTC=0.0018, dupCTC=0.5225, dup(CTC)2=0.0783, dup(CTC)3=0.0113, dup(CTC)4=0.0012
Allele Frequency Aggregator African Sub 612 (CCT)12C=1.000 del(CTC)7=0.000, del(CTC)6=0.000, del(CTC)5=0.000, del(CTC)4=0.000, del(CTC)3=0.000, del(CTC)2=0.000, delCTC=0.000, dupCTC=0.000, dup(CTC)2=0.000, dup(CTC)3=0.000, dup(CTC)4=0.000
Allele Frequency Aggregator Latin American 2 Sub 218 (CCT)12C=1.000 del(CTC)7=0.000, del(CTC)6=0.000, del(CTC)5=0.000, del(CTC)4=0.000, del(CTC)3=0.000, del(CTC)2=0.000, delCTC=0.000, dupCTC=0.000, dup(CTC)2=0.000, dup(CTC)3=0.000, dup(CTC)4=0.000
Allele Frequency Aggregator Other Sub 134 (CCT)12C=0.955 del(CTC)7=0.000, del(CTC)6=0.000, del(CTC)5=0.000, del(CTC)4=0.000, del(CTC)3=0.000, del(CTC)2=0.000, delCTC=0.000, dupCTC=0.045, dup(CTC)2=0.000, dup(CTC)3=0.000, dup(CTC)4=0.000
Allele Frequency Aggregator Asian Sub 36 (CCT)12C=1.00 del(CTC)7=0.00, del(CTC)6=0.00, del(CTC)5=0.00, del(CTC)4=0.00, del(CTC)3=0.00, del(CTC)2=0.00, delCTC=0.00, dupCTC=0.00, dup(CTC)2=0.00, dup(CTC)3=0.00, dup(CTC)4=0.00
Allele Frequency Aggregator Latin American 1 Sub 32 (CCT)12C=1.00 del(CTC)7=0.00, del(CTC)6=0.00, del(CTC)5=0.00, del(CTC)4=0.00, del(CTC)3=0.00, del(CTC)2=0.00, delCTC=0.00, dupCTC=0.00, dup(CTC)2=0.00, dup(CTC)3=0.00, dup(CTC)4=0.00
Allele Frequency Aggregator South Asian Sub 22 (CCT)12C=1.00 del(CTC)7=0.00, del(CTC)6=0.00, del(CTC)5=0.00, del(CTC)4=0.00, del(CTC)3=0.00, del(CTC)2=0.00, delCTC=0.00, dupCTC=0.00, dup(CTC)2=0.00, dup(CTC)3=0.00, dup(CTC)4=0.00
Help

Variant Details tab shows known variant placements on genomic sequences: chromosomes (NC_), RefSeqGene, pseudogenes or genomic regions (NG_), and in a separate table: on transcripts (NM_) and protein sequences (NP_). The corresponding transcript and protein locations are listed in adjacent lines, along with molecular consequences from Sequence Ontology. When no protein placement is available, only the transcript is listed. Column "Codon[Amino acid]" shows the actual base change in the format of "Reference > Alternate" allele, including the nucleotide codon change in transcripts, and the amino acid change in proteins, respectively, allowing for known ribosomal slippage sites. To view nucleotides adjacent to the variant use the Genomic View at the bottom of the page - zoom into the sequence until the nucleotides around the variant become visible.

Genomic Placements
Sequence name Change
GRCh38.p14 chr X NC_000023.11:g.48458660CTC[5]
GRCh38.p14 chr X NC_000023.11:g.48458660CTC[6]
GRCh38.p14 chr X NC_000023.11:g.48458660CTC[7]
GRCh38.p14 chr X NC_000023.11:g.48458660CTC[8]
GRCh38.p14 chr X NC_000023.11:g.48458660CTC[9]
GRCh38.p14 chr X NC_000023.11:g.48458660CTC[10]
GRCh38.p14 chr X NC_000023.11:g.48458660CTC[11]
GRCh38.p14 chr X NC_000023.11:g.48458660CTC[13]
GRCh38.p14 chr X NC_000023.11:g.48458660CTC[14]
GRCh38.p14 chr X NC_000023.11:g.48458660CTC[15]
GRCh38.p14 chr X NC_000023.11:g.48458660CTC[16]
GRCh38.p14 chr X NC_000023.11:g.48458660CTC[17]
GRCh38.p14 chr X NC_000023.11:g.48458660CTC[18]
GRCh38.p14 chr X NC_000023.11:g.48458660CTC[19]
GRCh37.p13 chr X fix patch HG1436_HG1432_PATCH NW_004070880.2:g.698089CTC[5]
GRCh37.p13 chr X fix patch HG1436_HG1432_PATCH NW_004070880.2:g.698089CTC[6]
GRCh37.p13 chr X fix patch HG1436_HG1432_PATCH NW_004070880.2:g.698089CTC[7]
GRCh37.p13 chr X fix patch HG1436_HG1432_PATCH NW_004070880.2:g.698089CTC[8]
GRCh37.p13 chr X fix patch HG1436_HG1432_PATCH NW_004070880.2:g.698089CTC[9]
GRCh37.p13 chr X fix patch HG1436_HG1432_PATCH NW_004070880.2:g.698089CTC[10]
GRCh37.p13 chr X fix patch HG1436_HG1432_PATCH NW_004070880.2:g.698089CTC[11]
GRCh37.p13 chr X fix patch HG1436_HG1432_PATCH NW_004070880.2:g.698089CTC[13]
GRCh37.p13 chr X fix patch HG1436_HG1432_PATCH NW_004070880.2:g.698089CTC[14]
GRCh37.p13 chr X fix patch HG1436_HG1432_PATCH NW_004070880.2:g.698089CTC[15]
GRCh37.p13 chr X fix patch HG1436_HG1432_PATCH NW_004070880.2:g.698089CTC[16]
GRCh37.p13 chr X fix patch HG1436_HG1432_PATCH NW_004070880.2:g.698089CTC[17]
GRCh37.p13 chr X fix patch HG1436_HG1432_PATCH NW_004070880.2:g.698089CTC[18]
GRCh37.p13 chr X fix patch HG1436_HG1432_PATCH NW_004070880.2:g.698089CTC[19]
SLC38A5 RefSeqGene NG_021469.2:g.16563AGG[5]
SLC38A5 RefSeqGene NG_021469.2:g.16563AGG[6]
SLC38A5 RefSeqGene NG_021469.2:g.16563AGG[7]
SLC38A5 RefSeqGene NG_021469.2:g.16563AGG[8]
SLC38A5 RefSeqGene NG_021469.2:g.16563AGG[9]
SLC38A5 RefSeqGene NG_021469.2:g.16563AGG[10]
SLC38A5 RefSeqGene NG_021469.2:g.16563AGG[11]
SLC38A5 RefSeqGene NG_021469.2:g.16563AGG[13]
SLC38A5 RefSeqGene NG_021469.2:g.16563AGG[14]
SLC38A5 RefSeqGene NG_021469.2:g.16563AGG[15]
SLC38A5 RefSeqGene NG_021469.2:g.16563AGG[16]
SLC38A5 RefSeqGene NG_021469.2:g.16563AGG[17]
SLC38A5 RefSeqGene NG_021469.2:g.16563AGG[18]
SLC38A5 RefSeqGene NG_021469.2:g.16563AGG[19]
GRCh37.p13 chr X NC_000023.10:g.48317043CTC[6]
GRCh37.p13 chr X NC_000023.10:g.48317043CTC[7]
GRCh37.p13 chr X NC_000023.10:g.48317043CTC[8]
GRCh37.p13 chr X NC_000023.10:g.48317043CTC[9]
GRCh37.p13 chr X NC_000023.10:g.48317043CTC[10]
GRCh37.p13 chr X NC_000023.10:g.48317043CTC[11]
GRCh37.p13 chr X NC_000023.10:g.48317043CTC[12]
GRCh37.p13 chr X NC_000023.10:g.48317043CTC[14]
GRCh37.p13 chr X NC_000023.10:g.48317043CTC[15]
GRCh37.p13 chr X NC_000023.10:g.48317043CTC[16]
GRCh37.p13 chr X NC_000023.10:g.48317043CTC[17]
GRCh37.p13 chr X NC_000023.10:g.48317043CTC[18]
GRCh37.p13 chr X NC_000023.10:g.48317043CTC[19]
GRCh37.p13 chr X NC_000023.10:g.48317043CTC[20]
Gene: SLC38A5, solute carrier family 38 member 5 (minus strand)
Molecule type Change Amino acid[Codon] SO Term
SLC38A5 transcript NM_033518.4:c.*238_*274= N/A 3 Prime UTR Variant
SLC38A5 transcript variant X2 XM_005272695.5:c.*238_*27…

XM_005272695.5:c.*238_*274=

N/A 3 Prime UTR Variant
SLC38A5 transcript variant X6 XM_017029960.2:c.*238_*27…

XM_017029960.2:c.*238_*274=

N/A 3 Prime UTR Variant
SLC38A5 transcript variant X7 XM_017029961.3:c.*238_*27…

XM_017029961.3:c.*238_*274=

N/A 3 Prime UTR Variant
SLC38A5 transcript variant X1 XM_005272694.4:c.1529AGG[…

XM_005272694.4:c.1529AGG[5]

EEEEEEEEEEEEEEEEEEE [GAGG] > EEEEEEEEEEEE [...

EEEEEEEEEEEEEEEEEEE [GAGG] > EEEEEEEEEEEE [GCC]

Coding Sequence Variant
sodium-coupled neutral amino acid transporter 5 isoform X1 XP_005272751.2:p.Glu515_G…

XP_005272751.2:p.Glu515_Glu521del

EEEEEEEEEEEEEEEEEEE (GluG…

EEEEEEEEEEEEEEEEEEE (GluGluGluGluGluGluGluGluGluGluGluGluGluGluGluGluGluGluGlu) > EEEEEEEEEEEE (GluGluGluGluGluGluGluGluGluGluGluGlu)

Inframe Deletion
SLC38A5 transcript variant X1 XM_005272694.4:c.1529AGG[…

XM_005272694.4:c.1529AGG[6]

EEEEEEEEEEEEEEEEEEE [GAGG] > EEEEEEEEEEEEE [...

EEEEEEEEEEEEEEEEEEE [GAGG] > EEEEEEEEEEEEE [GCC]

Coding Sequence Variant
sodium-coupled neutral amino acid transporter 5 isoform X1 XP_005272751.2:p.Glu516_G…

XP_005272751.2:p.Glu516_Glu521del

EEEEEEEEEEEEEEEEEEE (GluG…

EEEEEEEEEEEEEEEEEEE (GluGluGluGluGluGluGluGluGluGluGluGluGluGluGluGluGluGluGlu) > EEEEEEEEEEEEE (GluGluGluGluGluGluGluGluGluGluGluGluGlu)

Inframe Deletion
SLC38A5 transcript variant X1 XM_005272694.4:c.1529AGG[…

XM_005272694.4:c.1529AGG[7]

EEEEEEEEEEEEEEEEEEE [GAGG] > EEEEEEEEEEEEEE [...

EEEEEEEEEEEEEEEEEEE [GAGG] > EEEEEEEEEEEEEE [GCC]

Coding Sequence Variant
sodium-coupled neutral amino acid transporter 5 isoform X1 XP_005272751.2:p.Glu517_G…

XP_005272751.2:p.Glu517_Glu521del

EEEEEEEEEEEEEEEEEEE (GluG…

EEEEEEEEEEEEEEEEEEE (GluGluGluGluGluGluGluGluGluGluGluGluGluGluGluGluGluGluGlu) > EEEEEEEEEEEEEE (GluGluGluGluGluGluGluGluGluGluGluGluGluGlu)

Inframe Deletion
SLC38A5 transcript variant X1 XM_005272694.4:c.1529AGG[…

XM_005272694.4:c.1529AGG[8]

EEEEEEEEEEEEEEEEEEE [GAGG] > EEEEEEEEEEEEEEE [...

EEEEEEEEEEEEEEEEEEE [GAGG] > EEEEEEEEEEEEEEE [GCC]

Coding Sequence Variant
sodium-coupled neutral amino acid transporter 5 isoform X1 XP_005272751.2:p.Glu518_G…

XP_005272751.2:p.Glu518_Glu521del

EEEEEEEEEEEEEEEEEEE (GluG…

EEEEEEEEEEEEEEEEEEE (GluGluGluGluGluGluGluGluGluGluGluGluGluGluGluGluGluGluGlu) > EEEEEEEEEEEEEEE (GluGluGluGluGluGluGluGluGluGluGluGluGluGluGlu)

Inframe Deletion
SLC38A5 transcript variant X1 XM_005272694.4:c.1529AGG[…

XM_005272694.4:c.1529AGG[9]

EEEEEEEEEEEEEEEEEEE [GAGG] > EEEEEEEEEEEEEEEE [...

EEEEEEEEEEEEEEEEEEE [GAGG] > EEEEEEEEEEEEEEEE [GCC]

Coding Sequence Variant
sodium-coupled neutral amino acid transporter 5 isoform X1 XP_005272751.2:p.Glu519_G…

XP_005272751.2:p.Glu519_Glu521del

EEEEEEEEEEEEEEEEEEE (GluG…

EEEEEEEEEEEEEEEEEEE (GluGluGluGluGluGluGluGluGluGluGluGluGluGluGluGluGluGluGlu) > EEEEEEEEEEEEEEEE (GluGluGluGluGluGluGluGluGluGluGluGluGluGluGluGlu)

Inframe Deletion
SLC38A5 transcript variant X1 XM_005272694.4:c.1529AGG[…

XM_005272694.4:c.1529AGG[10]

EEEEEEEEEEEEEEEEEEE [GAGG] > EEEEEEEEEEEEEEEEE [...

EEEEEEEEEEEEEEEEEEE [GAGG] > EEEEEEEEEEEEEEEEE [GCC]

Coding Sequence Variant
sodium-coupled neutral amino acid transporter 5 isoform X1 XP_005272751.2:p.Glu520_G…

XP_005272751.2:p.Glu520_Glu521del

EEEEEEEEEEEEEEEEEEE (GluG…

EEEEEEEEEEEEEEEEEEE (GluGluGluGluGluGluGluGluGluGluGluGluGluGluGluGluGluGluGlu) > EEEEEEEEEEEEEEEEE (GluGluGluGluGluGluGluGluGluGluGluGluGluGluGluGluGlu)

Inframe Deletion
SLC38A5 transcript variant X1 XM_005272694.4:c.1529AGG[…

XM_005272694.4:c.1529AGG[11]

EEEEEEEEEEEEEEEEEEE [GAGG] > EEEEEEEEEEEEEEEEEE [...

EEEEEEEEEEEEEEEEEEE [GAGG] > EEEEEEEEEEEEEEEEEE [GCC]

Coding Sequence Variant
sodium-coupled neutral amino acid transporter 5 isoform X1 XP_005272751.2:p.Glu521del EEEEEEEEEEEEEEEEEEE (GluG…

EEEEEEEEEEEEEEEEEEE (GluGluGluGluGluGluGluGluGluGluGluGluGluGluGluGluGluGluGlu) > EEEEEEEEEEEEEEEEEE (GluGluGluGluGluGluGluGluGluGluGluGluGluGluGluGluGluGlu)

Inframe Deletion
SLC38A5 transcript variant X1 XM_005272694.4:c.1529AGG[…

XM_005272694.4:c.1529AGG[13]

EEEEEEEEEEEEEEEEEEE [GCC] > EEEEEEEEEEEEEEEEEEEE [...

EEEEEEEEEEEEEEEEEEE [GCC] > EEEEEEEEEEEEEEEEEEEE [GAGGCC]

Coding Sequence Variant
sodium-coupled neutral amino acid transporter 5 isoform X1 XP_005272751.2:p.Glu521dup EEEEEEEEEEEEEEEEEEE (GluG…

EEEEEEEEEEEEEEEEEEE (GluGluGluGluGluGluGluGluGluGluGluGluGluGluGluGluGluGluGlu) > EEEEEEEEEEEEEEEEEEEE (GluGluGluGluGluGluGluGluGluGluGluGluGluGluGluGluGluGluGluGlu)

Inframe Insertion
SLC38A5 transcript variant X1 XM_005272694.4:c.1529AGG[…

XM_005272694.4:c.1529AGG[14]

EEEEEEEEEEEEEEEEEEE [GCC] > EEEEEEEEEEEEEEEEEEEEE [...

EEEEEEEEEEEEEEEEEEE [GCC] > EEEEEEEEEEEEEEEEEEEEE [GAGGAGGCC]

Coding Sequence Variant
sodium-coupled neutral amino acid transporter 5 isoform X1 XP_005272751.2:p.Glu520_G…

XP_005272751.2:p.Glu520_Glu521dup

EEEEEEEEEEEEEEEEEEE (GluG…

EEEEEEEEEEEEEEEEEEE (GluGluGluGluGluGluGluGluGluGluGluGluGluGluGluGluGluGluGlu) > EEEEEEEEEEEEEEEEEEEEE (GluGluGluGluGluGluGluGluGluGluGluGluGluGluGluGluGluGluGluGluGlu)

Inframe Insertion
SLC38A5 transcript variant X1 XM_005272694.4:c.1529AGG[…

XM_005272694.4:c.1529AGG[15]

EEEEEEEEEEEEEEEEEEE [GCC] > EEEEEEEEEEEEEEEEEEEEEE [...

EEEEEEEEEEEEEEEEEEE [GCC] > EEEEEEEEEEEEEEEEEEEEEE [GAGGAGGAGGCC]

Coding Sequence Variant
sodium-coupled neutral amino acid transporter 5 isoform X1 XP_005272751.2:p.Glu519_G…

XP_005272751.2:p.Glu519_Glu521dup

EEEEEEEEEEEEEEEEEEE (GluG…

EEEEEEEEEEEEEEEEEEE (GluGluGluGluGluGluGluGluGluGluGluGluGluGluGluGluGluGluGlu) > EEEEEEEEEEEEEEEEEEEEEE (GluGluGluGluGluGluGluGluGluGluGluGluGluGluGluGluGluGluGluGluGluGlu)

Inframe Insertion
SLC38A5 transcript variant X1 XM_005272694.4:c.1529AGG[…

XM_005272694.4:c.1529AGG[16]

EEEEEEEEEEEEEEEEEEE [GCC] > EEEEEEEEEEEEEEEEEEEEEEE [...

EEEEEEEEEEEEEEEEEEE [GCC] > EEEEEEEEEEEEEEEEEEEEEEE [GAGGAGGAGGAGGCC]

Coding Sequence Variant
sodium-coupled neutral amino acid transporter 5 isoform X1 XP_005272751.2:p.Glu518_G…

XP_005272751.2:p.Glu518_Glu521dup

EEEEEEEEEEEEEEEEEEE (GluG…

EEEEEEEEEEEEEEEEEEE (GluGluGluGluGluGluGluGluGluGluGluGluGluGluGluGluGluGluGlu) > EEEEEEEEEEEEEEEEEEEEEEE (GluGluGluGluGluGluGluGluGluGluGluGluGluGluGluGluGluGluGluGluGluGluGlu)

Inframe Insertion
SLC38A5 transcript variant X1 XM_005272694.4:c.1529AGG[…

XM_005272694.4:c.1529AGG[17]

EEEEEEEEEEEEEEEEEEE [GCC] > EEEEEEEEEEEEEEEEEEEEEEEE [...

EEEEEEEEEEEEEEEEEEE [GCC] > EEEEEEEEEEEEEEEEEEEEEEEE [GAGGAGGAGGAGGAGGCC]

Coding Sequence Variant
sodium-coupled neutral amino acid transporter 5 isoform X1 XP_005272751.2:p.Glu517_G…

XP_005272751.2:p.Glu517_Glu521dup

EEEEEEEEEEEEEEEEEEE (GluG…

EEEEEEEEEEEEEEEEEEE (GluGluGluGluGluGluGluGluGluGluGluGluGluGluGluGluGluGluGlu) > EEEEEEEEEEEEEEEEEEEEEEEE (GluGluGluGluGluGluGluGluGluGluGluGluGluGluGluGluGluGluGluGluGluGluGluGlu)

Inframe Insertion
SLC38A5 transcript variant X1 XM_005272694.4:c.1529AGG[…

XM_005272694.4:c.1529AGG[18]

EEEEEEEEEEEEEEEEEEE [GCC] > EEEEEEEEEEEEEEEEEEEEEEEEE [...

EEEEEEEEEEEEEEEEEEE [GCC] > EEEEEEEEEEEEEEEEEEEEEEEEE [GAGGAGGAGGAGGAGGAGGCC]

Coding Sequence Variant
sodium-coupled neutral amino acid transporter 5 isoform X1 XP_005272751.2:p.Glu516_G…

XP_005272751.2:p.Glu516_Glu521dup

EEEEEEEEEEEEEEEEEEE (GluG…

EEEEEEEEEEEEEEEEEEE (GluGluGluGluGluGluGluGluGluGluGluGluGluGluGluGluGluGluGlu) > EEEEEEEEEEEEEEEEEEEEEEEEE (GluGluGluGluGluGluGluGluGluGluGluGluGluGluGluGluGluGluGluGluGluGluGluGluGlu)

Inframe Insertion
SLC38A5 transcript variant X1 XM_005272694.4:c.1529AGG[…

XM_005272694.4:c.1529AGG[19]

EEEEEEEEEEEEEEEEEEE [GCC] > EEEEEEEEEEEEEEEEEEEEEEEEEE [...

EEEEEEEEEEEEEEEEEEE [GCC] > EEEEEEEEEEEEEEEEEEEEEEEEEE [GAGGAGGAGGAGGAGGAGGAGGCC]

Coding Sequence Variant
sodium-coupled neutral amino acid transporter 5 isoform X1 XP_005272751.2:p.Glu515_G…

XP_005272751.2:p.Glu515_Glu521dup

EEEEEEEEEEEEEEEEEEE (GluG…

EEEEEEEEEEEEEEEEEEE (GluGluGluGluGluGluGluGluGluGluGluGluGluGluGluGluGluGluGlu) > EEEEEEEEEEEEEEEEEEEEEEEEEE (GluGluGluGluGluGluGluGluGluGluGluGluGluGluGluGluGluGluGluGluGluGluGluGluGluGlu)

Inframe Insertion
SLC38A5 transcript variant X3 XM_005272697.3:c.1406AGG[…

XM_005272697.3:c.1406AGG[5]

EEEEEEEEEEEEEEEEEEE [GAGG] > EEEEEEEEEEEE [...

EEEEEEEEEEEEEEEEEEE [GAGG] > EEEEEEEEEEEE [GCC]

Coding Sequence Variant
sodium-coupled neutral amino acid transporter 5 isoform X3 XP_005272754.2:p.Glu474_G…

XP_005272754.2:p.Glu474_Glu480del

EEEEEEEEEEEEEEEEEEE (GluG…

EEEEEEEEEEEEEEEEEEE (GluGluGluGluGluGluGluGluGluGluGluGluGluGluGluGluGluGluGlu) > EEEEEEEEEEEE (GluGluGluGluGluGluGluGluGluGluGluGlu)

Inframe Deletion
SLC38A5 transcript variant X3 XM_005272697.3:c.1406AGG[…

XM_005272697.3:c.1406AGG[6]

EEEEEEEEEEEEEEEEEEE [GAGG] > EEEEEEEEEEEEE [...

EEEEEEEEEEEEEEEEEEE [GAGG] > EEEEEEEEEEEEE [GCC]

Coding Sequence Variant
sodium-coupled neutral amino acid transporter 5 isoform X3 XP_005272754.2:p.Glu475_G…

XP_005272754.2:p.Glu475_Glu480del

EEEEEEEEEEEEEEEEEEE (GluG…

EEEEEEEEEEEEEEEEEEE (GluGluGluGluGluGluGluGluGluGluGluGluGluGluGluGluGluGluGlu) > EEEEEEEEEEEEE (GluGluGluGluGluGluGluGluGluGluGluGluGlu)

Inframe Deletion
SLC38A5 transcript variant X3 XM_005272697.3:c.1406AGG[…

XM_005272697.3:c.1406AGG[7]

EEEEEEEEEEEEEEEEEEE [GAGG] > EEEEEEEEEEEEEE [...

EEEEEEEEEEEEEEEEEEE [GAGG] > EEEEEEEEEEEEEE [GCC]

Coding Sequence Variant
sodium-coupled neutral amino acid transporter 5 isoform X3 XP_005272754.2:p.Glu476_G…

XP_005272754.2:p.Glu476_Glu480del

EEEEEEEEEEEEEEEEEEE (GluG…

EEEEEEEEEEEEEEEEEEE (GluGluGluGluGluGluGluGluGluGluGluGluGluGluGluGluGluGluGlu) > EEEEEEEEEEEEEE (GluGluGluGluGluGluGluGluGluGluGluGluGluGlu)

Inframe Deletion
SLC38A5 transcript variant X3 XM_005272697.3:c.1406AGG[…

XM_005272697.3:c.1406AGG[8]

EEEEEEEEEEEEEEEEEEE [GAGG] > EEEEEEEEEEEEEEE [...

EEEEEEEEEEEEEEEEEEE [GAGG] > EEEEEEEEEEEEEEE [GCC]

Coding Sequence Variant
sodium-coupled neutral amino acid transporter 5 isoform X3 XP_005272754.2:p.Glu477_G…

XP_005272754.2:p.Glu477_Glu480del

EEEEEEEEEEEEEEEEEEE (GluG…

EEEEEEEEEEEEEEEEEEE (GluGluGluGluGluGluGluGluGluGluGluGluGluGluGluGluGluGluGlu) > EEEEEEEEEEEEEEE (GluGluGluGluGluGluGluGluGluGluGluGluGluGluGlu)

Inframe Deletion
SLC38A5 transcript variant X3 XM_005272697.3:c.1406AGG[…

XM_005272697.3:c.1406AGG[9]

EEEEEEEEEEEEEEEEEEE [GAGG] > EEEEEEEEEEEEEEEE [...

EEEEEEEEEEEEEEEEEEE [GAGG] > EEEEEEEEEEEEEEEE [GCC]

Coding Sequence Variant
sodium-coupled neutral amino acid transporter 5 isoform X3 XP_005272754.2:p.Glu478_G…

XP_005272754.2:p.Glu478_Glu480del

EEEEEEEEEEEEEEEEEEE (GluG…

EEEEEEEEEEEEEEEEEEE (GluGluGluGluGluGluGluGluGluGluGluGluGluGluGluGluGluGluGlu) > EEEEEEEEEEEEEEEE (GluGluGluGluGluGluGluGluGluGluGluGluGluGluGluGlu)

Inframe Deletion
SLC38A5 transcript variant X3 XM_005272697.3:c.1406AGG[…

XM_005272697.3:c.1406AGG[10]

EEEEEEEEEEEEEEEEEEE [GAGG] > EEEEEEEEEEEEEEEEE [...

EEEEEEEEEEEEEEEEEEE [GAGG] > EEEEEEEEEEEEEEEEE [GCC]

Coding Sequence Variant
sodium-coupled neutral amino acid transporter 5 isoform X3 XP_005272754.2:p.Glu479_G…

XP_005272754.2:p.Glu479_Glu480del

EEEEEEEEEEEEEEEEEEE (GluG…

EEEEEEEEEEEEEEEEEEE (GluGluGluGluGluGluGluGluGluGluGluGluGluGluGluGluGluGluGlu) > EEEEEEEEEEEEEEEEE (GluGluGluGluGluGluGluGluGluGluGluGluGluGluGluGluGlu)

Inframe Deletion
SLC38A5 transcript variant X3 XM_005272697.3:c.1406AGG[…

XM_005272697.3:c.1406AGG[11]

EEEEEEEEEEEEEEEEEEE [GAGG] > EEEEEEEEEEEEEEEEEE [...

EEEEEEEEEEEEEEEEEEE [GAGG] > EEEEEEEEEEEEEEEEEE [GCC]

Coding Sequence Variant
sodium-coupled neutral amino acid transporter 5 isoform X3 XP_005272754.2:p.Glu480del EEEEEEEEEEEEEEEEEEE (GluG…

EEEEEEEEEEEEEEEEEEE (GluGluGluGluGluGluGluGluGluGluGluGluGluGluGluGluGluGluGlu) > EEEEEEEEEEEEEEEEEE (GluGluGluGluGluGluGluGluGluGluGluGluGluGluGluGluGluGlu)

Inframe Deletion
SLC38A5 transcript variant X3 XM_005272697.3:c.1406AGG[…

XM_005272697.3:c.1406AGG[13]

EEEEEEEEEEEEEEEEEEE [GCC] > EEEEEEEEEEEEEEEEEEEE [...

EEEEEEEEEEEEEEEEEEE [GCC] > EEEEEEEEEEEEEEEEEEEE [GAGGCC]

Coding Sequence Variant
sodium-coupled neutral amino acid transporter 5 isoform X3 XP_005272754.2:p.Glu480dup EEEEEEEEEEEEEEEEEEE (GluG…

EEEEEEEEEEEEEEEEEEE (GluGluGluGluGluGluGluGluGluGluGluGluGluGluGluGluGluGluGlu) > EEEEEEEEEEEEEEEEEEEE (GluGluGluGluGluGluGluGluGluGluGluGluGluGluGluGluGluGluGluGlu)

Inframe Insertion
SLC38A5 transcript variant X3 XM_005272697.3:c.1406AGG[…

XM_005272697.3:c.1406AGG[14]

EEEEEEEEEEEEEEEEEEE [GCC] > EEEEEEEEEEEEEEEEEEEEE [...

EEEEEEEEEEEEEEEEEEE [GCC] > EEEEEEEEEEEEEEEEEEEEE [GAGGAGGCC]

Coding Sequence Variant
sodium-coupled neutral amino acid transporter 5 isoform X3 XP_005272754.2:p.Glu479_G…

XP_005272754.2:p.Glu479_Glu480dup

EEEEEEEEEEEEEEEEEEE (GluG…

EEEEEEEEEEEEEEEEEEE (GluGluGluGluGluGluGluGluGluGluGluGluGluGluGluGluGluGluGlu) > EEEEEEEEEEEEEEEEEEEEE (GluGluGluGluGluGluGluGluGluGluGluGluGluGluGluGluGluGluGluGluGlu)

Inframe Insertion
SLC38A5 transcript variant X3 XM_005272697.3:c.1406AGG[…

XM_005272697.3:c.1406AGG[15]

EEEEEEEEEEEEEEEEEEE [GCC] > EEEEEEEEEEEEEEEEEEEEEE [...

EEEEEEEEEEEEEEEEEEE [GCC] > EEEEEEEEEEEEEEEEEEEEEE [GAGGAGGAGGCC]

Coding Sequence Variant
sodium-coupled neutral amino acid transporter 5 isoform X3 XP_005272754.2:p.Glu478_G…

XP_005272754.2:p.Glu478_Glu480dup

EEEEEEEEEEEEEEEEEEE (GluG…

EEEEEEEEEEEEEEEEEEE (GluGluGluGluGluGluGluGluGluGluGluGluGluGluGluGluGluGluGlu) > EEEEEEEEEEEEEEEEEEEEEE (GluGluGluGluGluGluGluGluGluGluGluGluGluGluGluGluGluGluGluGluGluGlu)

Inframe Insertion
SLC38A5 transcript variant X3 XM_005272697.3:c.1406AGG[…

XM_005272697.3:c.1406AGG[16]

EEEEEEEEEEEEEEEEEEE [GCC] > EEEEEEEEEEEEEEEEEEEEEEE [...

EEEEEEEEEEEEEEEEEEE [GCC] > EEEEEEEEEEEEEEEEEEEEEEE [GAGGAGGAGGAGGCC]

Coding Sequence Variant
sodium-coupled neutral amino acid transporter 5 isoform X3 XP_005272754.2:p.Glu477_G…

XP_005272754.2:p.Glu477_Glu480dup

EEEEEEEEEEEEEEEEEEE (GluG…

EEEEEEEEEEEEEEEEEEE (GluGluGluGluGluGluGluGluGluGluGluGluGluGluGluGluGluGluGlu) > EEEEEEEEEEEEEEEEEEEEEEE (GluGluGluGluGluGluGluGluGluGluGluGluGluGluGluGluGluGluGluGluGluGluGlu)

Inframe Insertion
SLC38A5 transcript variant X3 XM_005272697.3:c.1406AGG[…

XM_005272697.3:c.1406AGG[17]

EEEEEEEEEEEEEEEEEEE [GCC] > EEEEEEEEEEEEEEEEEEEEEEEE [...

EEEEEEEEEEEEEEEEEEE [GCC] > EEEEEEEEEEEEEEEEEEEEEEEE [GAGGAGGAGGAGGAGGCC]

Coding Sequence Variant
sodium-coupled neutral amino acid transporter 5 isoform X3 XP_005272754.2:p.Glu476_G…

XP_005272754.2:p.Glu476_Glu480dup

EEEEEEEEEEEEEEEEEEE (GluG…

EEEEEEEEEEEEEEEEEEE (GluGluGluGluGluGluGluGluGluGluGluGluGluGluGluGluGluGluGlu) > EEEEEEEEEEEEEEEEEEEEEEEE (GluGluGluGluGluGluGluGluGluGluGluGluGluGluGluGluGluGluGluGluGluGluGluGlu)

Inframe Insertion
SLC38A5 transcript variant X3 XM_005272697.3:c.1406AGG[…

XM_005272697.3:c.1406AGG[18]

EEEEEEEEEEEEEEEEEEE [GCC] > EEEEEEEEEEEEEEEEEEEEEEEEE [...

EEEEEEEEEEEEEEEEEEE [GCC] > EEEEEEEEEEEEEEEEEEEEEEEEE [GAGGAGGAGGAGGAGGAGGCC]

Coding Sequence Variant
sodium-coupled neutral amino acid transporter 5 isoform X3 XP_005272754.2:p.Glu475_G…

XP_005272754.2:p.Glu475_Glu480dup

EEEEEEEEEEEEEEEEEEE (GluG…

EEEEEEEEEEEEEEEEEEE (GluGluGluGluGluGluGluGluGluGluGluGluGluGluGluGluGluGluGlu) > EEEEEEEEEEEEEEEEEEEEEEEEE (GluGluGluGluGluGluGluGluGluGluGluGluGluGluGluGluGluGluGluGluGluGluGluGluGlu)

Inframe Insertion
SLC38A5 transcript variant X3 XM_005272697.3:c.1406AGG[…

XM_005272697.3:c.1406AGG[19]

EEEEEEEEEEEEEEEEEEE [GCC] > EEEEEEEEEEEEEEEEEEEEEEEEEE [...

EEEEEEEEEEEEEEEEEEE [GCC] > EEEEEEEEEEEEEEEEEEEEEEEEEE [GAGGAGGAGGAGGAGGAGGAGGCC]

Coding Sequence Variant
sodium-coupled neutral amino acid transporter 5 isoform X3 XP_005272754.2:p.Glu474_G…

XP_005272754.2:p.Glu474_Glu480dup

EEEEEEEEEEEEEEEEEEE (GluG…

EEEEEEEEEEEEEEEEEEE (GluGluGluGluGluGluGluGluGluGluGluGluGluGluGluGluGluGluGlu) > EEEEEEEEEEEEEEEEEEEEEEEEEE (GluGluGluGluGluGluGluGluGluGluGluGluGluGluGluGluGluGluGluGluGluGluGluGluGluGlu)

Inframe Insertion
SLC38A5 transcript variant X4 XM_006724569.4:c.1388AGG[…

XM_006724569.4:c.1388AGG[5]

EEEEEEEEEEEEEEEEEEE [GAGG] > EEEEEEEEEEEE [...

EEEEEEEEEEEEEEEEEEE [GAGG] > EEEEEEEEEEEE [GCC]

Coding Sequence Variant
sodium-coupled neutral amino acid transporter 5 isoform X4 XP_006724632.1:p.Glu468_G…

XP_006724632.1:p.Glu468_Glu474del

EEEEEEEEEEEEEEEEEEE (GluG…

EEEEEEEEEEEEEEEEEEE (GluGluGluGluGluGluGluGluGluGluGluGluGluGluGluGluGluGluGlu) > EEEEEEEEEEEE (GluGluGluGluGluGluGluGluGluGluGluGlu)

Inframe Deletion
SLC38A5 transcript variant X4 XM_006724569.4:c.1388AGG[…

XM_006724569.4:c.1388AGG[6]

EEEEEEEEEEEEEEEEEEE [GAGG] > EEEEEEEEEEEEE [...

EEEEEEEEEEEEEEEEEEE [GAGG] > EEEEEEEEEEEEE [GCC]

Coding Sequence Variant
sodium-coupled neutral amino acid transporter 5 isoform X4 XP_006724632.1:p.Glu469_G…

XP_006724632.1:p.Glu469_Glu474del

EEEEEEEEEEEEEEEEEEE (GluG…

EEEEEEEEEEEEEEEEEEE (GluGluGluGluGluGluGluGluGluGluGluGluGluGluGluGluGluGluGlu) > EEEEEEEEEEEEE (GluGluGluGluGluGluGluGluGluGluGluGluGlu)

Inframe Deletion
SLC38A5 transcript variant X4 XM_006724569.4:c.1388AGG[…

XM_006724569.4:c.1388AGG[7]

EEEEEEEEEEEEEEEEEEE [GAGG] > EEEEEEEEEEEEEE [...

EEEEEEEEEEEEEEEEEEE [GAGG] > EEEEEEEEEEEEEE [GCC]

Coding Sequence Variant
sodium-coupled neutral amino acid transporter 5 isoform X4 XP_006724632.1:p.Glu470_G…

XP_006724632.1:p.Glu470_Glu474del

EEEEEEEEEEEEEEEEEEE (GluG…

EEEEEEEEEEEEEEEEEEE (GluGluGluGluGluGluGluGluGluGluGluGluGluGluGluGluGluGluGlu) > EEEEEEEEEEEEEE (GluGluGluGluGluGluGluGluGluGluGluGluGluGlu)

Inframe Deletion
SLC38A5 transcript variant X4 XM_006724569.4:c.1388AGG[…

XM_006724569.4:c.1388AGG[8]

EEEEEEEEEEEEEEEEEEE [GAGG] > EEEEEEEEEEEEEEE [...

EEEEEEEEEEEEEEEEEEE [GAGG] > EEEEEEEEEEEEEEE [GCC]

Coding Sequence Variant
sodium-coupled neutral amino acid transporter 5 isoform X4 XP_006724632.1:p.Glu471_G…

XP_006724632.1:p.Glu471_Glu474del

EEEEEEEEEEEEEEEEEEE (GluG…

EEEEEEEEEEEEEEEEEEE (GluGluGluGluGluGluGluGluGluGluGluGluGluGluGluGluGluGluGlu) > EEEEEEEEEEEEEEE (GluGluGluGluGluGluGluGluGluGluGluGluGluGluGlu)

Inframe Deletion
SLC38A5 transcript variant X4 XM_006724569.4:c.1388AGG[…

XM_006724569.4:c.1388AGG[9]

EEEEEEEEEEEEEEEEEEE [GAGG] > EEEEEEEEEEEEEEEE [...

EEEEEEEEEEEEEEEEEEE [GAGG] > EEEEEEEEEEEEEEEE [GCC]

Coding Sequence Variant
sodium-coupled neutral amino acid transporter 5 isoform X4 XP_006724632.1:p.Glu472_G…

XP_006724632.1:p.Glu472_Glu474del

EEEEEEEEEEEEEEEEEEE (GluG…

EEEEEEEEEEEEEEEEEEE (GluGluGluGluGluGluGluGluGluGluGluGluGluGluGluGluGluGluGlu) > EEEEEEEEEEEEEEEE (GluGluGluGluGluGluGluGluGluGluGluGluGluGluGluGlu)

Inframe Deletion
SLC38A5 transcript variant X4 XM_006724569.4:c.1388AGG[…

XM_006724569.4:c.1388AGG[10]

EEEEEEEEEEEEEEEEEEE [GAGG] > EEEEEEEEEEEEEEEEE [...

EEEEEEEEEEEEEEEEEEE [GAGG] > EEEEEEEEEEEEEEEEE [GCC]

Coding Sequence Variant
sodium-coupled neutral amino acid transporter 5 isoform X4 XP_006724632.1:p.Glu473_G…

XP_006724632.1:p.Glu473_Glu474del

EEEEEEEEEEEEEEEEEEE (GluG…

EEEEEEEEEEEEEEEEEEE (GluGluGluGluGluGluGluGluGluGluGluGluGluGluGluGluGluGluGlu) > EEEEEEEEEEEEEEEEE (GluGluGluGluGluGluGluGluGluGluGluGluGluGluGluGluGlu)

Inframe Deletion
SLC38A5 transcript variant X4 XM_006724569.4:c.1388AGG[…

XM_006724569.4:c.1388AGG[11]

EEEEEEEEEEEEEEEEEEE [GAGG] > EEEEEEEEEEEEEEEEEE [...

EEEEEEEEEEEEEEEEEEE [GAGG] > EEEEEEEEEEEEEEEEEE [GCC]

Coding Sequence Variant
sodium-coupled neutral amino acid transporter 5 isoform X4 XP_006724632.1:p.Glu474del EEEEEEEEEEEEEEEEEEE (GluG…

EEEEEEEEEEEEEEEEEEE (GluGluGluGluGluGluGluGluGluGluGluGluGluGluGluGluGluGluGlu) > EEEEEEEEEEEEEEEEEE (GluGluGluGluGluGluGluGluGluGluGluGluGluGluGluGluGluGlu)

Inframe Deletion
SLC38A5 transcript variant X4 XM_006724569.4:c.1388AGG[…

XM_006724569.4:c.1388AGG[13]

EEEEEEEEEEEEEEEEEEE [GCC] > EEEEEEEEEEEEEEEEEEEE [...

EEEEEEEEEEEEEEEEEEE [GCC] > EEEEEEEEEEEEEEEEEEEE [GAGGCC]

Coding Sequence Variant
sodium-coupled neutral amino acid transporter 5 isoform X4 XP_006724632.1:p.Glu474dup EEEEEEEEEEEEEEEEEEE (GluG…

EEEEEEEEEEEEEEEEEEE (GluGluGluGluGluGluGluGluGluGluGluGluGluGluGluGluGluGluGlu) > EEEEEEEEEEEEEEEEEEEE (GluGluGluGluGluGluGluGluGluGluGluGluGluGluGluGluGluGluGluGlu)

Inframe Insertion
SLC38A5 transcript variant X4 XM_006724569.4:c.1388AGG[…

XM_006724569.4:c.1388AGG[14]

EEEEEEEEEEEEEEEEEEE [GCC] > EEEEEEEEEEEEEEEEEEEEE [...

EEEEEEEEEEEEEEEEEEE [GCC] > EEEEEEEEEEEEEEEEEEEEE [GAGGAGGCC]

Coding Sequence Variant
sodium-coupled neutral amino acid transporter 5 isoform X4 XP_006724632.1:p.Glu473_G…

XP_006724632.1:p.Glu473_Glu474dup

EEEEEEEEEEEEEEEEEEE (GluG…

EEEEEEEEEEEEEEEEEEE (GluGluGluGluGluGluGluGluGluGluGluGluGluGluGluGluGluGluGlu) > EEEEEEEEEEEEEEEEEEEEE (GluGluGluGluGluGluGluGluGluGluGluGluGluGluGluGluGluGluGluGluGlu)

Inframe Insertion
SLC38A5 transcript variant X4 XM_006724569.4:c.1388AGG[…

XM_006724569.4:c.1388AGG[15]

EEEEEEEEEEEEEEEEEEE [GCC] > EEEEEEEEEEEEEEEEEEEEEE [...

EEEEEEEEEEEEEEEEEEE [GCC] > EEEEEEEEEEEEEEEEEEEEEE [GAGGAGGAGGCC]

Coding Sequence Variant
sodium-coupled neutral amino acid transporter 5 isoform X4 XP_006724632.1:p.Glu472_G…

XP_006724632.1:p.Glu472_Glu474dup

EEEEEEEEEEEEEEEEEEE (GluG…

EEEEEEEEEEEEEEEEEEE (GluGluGluGluGluGluGluGluGluGluGluGluGluGluGluGluGluGluGlu) > EEEEEEEEEEEEEEEEEEEEEE (GluGluGluGluGluGluGluGluGluGluGluGluGluGluGluGluGluGluGluGluGluGlu)

Inframe Insertion
SLC38A5 transcript variant X4 XM_006724569.4:c.1388AGG[…

XM_006724569.4:c.1388AGG[16]

EEEEEEEEEEEEEEEEEEE [GCC] > EEEEEEEEEEEEEEEEEEEEEEE [...

EEEEEEEEEEEEEEEEEEE [GCC] > EEEEEEEEEEEEEEEEEEEEEEE [GAGGAGGAGGAGGCC]

Coding Sequence Variant
sodium-coupled neutral amino acid transporter 5 isoform X4 XP_006724632.1:p.Glu471_G…

XP_006724632.1:p.Glu471_Glu474dup

EEEEEEEEEEEEEEEEEEE (GluG…

EEEEEEEEEEEEEEEEEEE (GluGluGluGluGluGluGluGluGluGluGluGluGluGluGluGluGluGluGlu) > EEEEEEEEEEEEEEEEEEEEEEE (GluGluGluGluGluGluGluGluGluGluGluGluGluGluGluGluGluGluGluGluGluGluGlu)

Inframe Insertion
SLC38A5 transcript variant X4 XM_006724569.4:c.1388AGG[…

XM_006724569.4:c.1388AGG[17]

EEEEEEEEEEEEEEEEEEE [GCC] > EEEEEEEEEEEEEEEEEEEEEEEE [...

EEEEEEEEEEEEEEEEEEE [GCC] > EEEEEEEEEEEEEEEEEEEEEEEE [GAGGAGGAGGAGGAGGCC]

Coding Sequence Variant
sodium-coupled neutral amino acid transporter 5 isoform X4 XP_006724632.1:p.Glu470_G…

XP_006724632.1:p.Glu470_Glu474dup

EEEEEEEEEEEEEEEEEEE (GluG…

EEEEEEEEEEEEEEEEEEE (GluGluGluGluGluGluGluGluGluGluGluGluGluGluGluGluGluGluGlu) > EEEEEEEEEEEEEEEEEEEEEEEE (GluGluGluGluGluGluGluGluGluGluGluGluGluGluGluGluGluGluGluGluGluGluGluGlu)

Inframe Insertion
SLC38A5 transcript variant X4 XM_006724569.4:c.1388AGG[…

XM_006724569.4:c.1388AGG[18]

EEEEEEEEEEEEEEEEEEE [GCC] > EEEEEEEEEEEEEEEEEEEEEEEEE [...

EEEEEEEEEEEEEEEEEEE [GCC] > EEEEEEEEEEEEEEEEEEEEEEEEE [GAGGAGGAGGAGGAGGAGGCC]

Coding Sequence Variant
sodium-coupled neutral amino acid transporter 5 isoform X4 XP_006724632.1:p.Glu469_G…

XP_006724632.1:p.Glu469_Glu474dup

EEEEEEEEEEEEEEEEEEE (GluG…

EEEEEEEEEEEEEEEEEEE (GluGluGluGluGluGluGluGluGluGluGluGluGluGluGluGluGluGluGlu) > EEEEEEEEEEEEEEEEEEEEEEEEE (GluGluGluGluGluGluGluGluGluGluGluGluGluGluGluGluGluGluGluGluGluGluGluGluGlu)

Inframe Insertion
SLC38A5 transcript variant X4 XM_006724569.4:c.1388AGG[…

XM_006724569.4:c.1388AGG[19]

EEEEEEEEEEEEEEEEEEE [GCC] > EEEEEEEEEEEEEEEEEEEEEEEEEE [...

EEEEEEEEEEEEEEEEEEE [GCC] > EEEEEEEEEEEEEEEEEEEEEEEEEE [GAGGAGGAGGAGGAGGAGGAGGCC]

Coding Sequence Variant
sodium-coupled neutral amino acid transporter 5 isoform X4 XP_006724632.1:p.Glu468_G…

XP_006724632.1:p.Glu468_Glu474dup

EEEEEEEEEEEEEEEEEEE (GluG…

EEEEEEEEEEEEEEEEEEE (GluGluGluGluGluGluGluGluGluGluGluGluGluGluGluGluGluGluGlu) > EEEEEEEEEEEEEEEEEEEEEEEEEE (GluGluGluGluGluGluGluGluGluGluGluGluGluGluGluGluGluGluGluGluGluGluGluGluGluGlu)

Inframe Insertion
SLC38A5 transcript variant X5 XM_005272698.6:c.1388AGG[…

XM_005272698.6:c.1388AGG[5]

EEEEEEEEEEEEEEEEEEE [GAGG] > EEEEEEEEEEEE [...

EEEEEEEEEEEEEEEEEEE [GAGG] > EEEEEEEEEEEE [GCC]

Coding Sequence Variant
sodium-coupled neutral amino acid transporter 5 isoform X4 XP_005272755.2:p.Glu468_G…

XP_005272755.2:p.Glu468_Glu474del

EEEEEEEEEEEEEEEEEEE (GluG…

EEEEEEEEEEEEEEEEEEE (GluGluGluGluGluGluGluGluGluGluGluGluGluGluGluGluGluGluGlu) > EEEEEEEEEEEE (GluGluGluGluGluGluGluGluGluGluGluGlu)

Inframe Deletion
SLC38A5 transcript variant X5 XM_005272698.6:c.1388AGG[…

XM_005272698.6:c.1388AGG[6]

EEEEEEEEEEEEEEEEEEE [GAGG] > EEEEEEEEEEEEE [...

EEEEEEEEEEEEEEEEEEE [GAGG] > EEEEEEEEEEEEE [GCC]

Coding Sequence Variant
sodium-coupled neutral amino acid transporter 5 isoform X4 XP_005272755.2:p.Glu469_G…

XP_005272755.2:p.Glu469_Glu474del

EEEEEEEEEEEEEEEEEEE (GluG…

EEEEEEEEEEEEEEEEEEE (GluGluGluGluGluGluGluGluGluGluGluGluGluGluGluGluGluGluGlu) > EEEEEEEEEEEEE (GluGluGluGluGluGluGluGluGluGluGluGluGlu)

Inframe Deletion
SLC38A5 transcript variant X5 XM_005272698.6:c.1388AGG[…

XM_005272698.6:c.1388AGG[7]

EEEEEEEEEEEEEEEEEEE [GAGG] > EEEEEEEEEEEEEE [...

EEEEEEEEEEEEEEEEEEE [GAGG] > EEEEEEEEEEEEEE [GCC]

Coding Sequence Variant
sodium-coupled neutral amino acid transporter 5 isoform X4 XP_005272755.2:p.Glu470_G…

XP_005272755.2:p.Glu470_Glu474del

EEEEEEEEEEEEEEEEEEE (GluG…

EEEEEEEEEEEEEEEEEEE (GluGluGluGluGluGluGluGluGluGluGluGluGluGluGluGluGluGluGlu) > EEEEEEEEEEEEEE (GluGluGluGluGluGluGluGluGluGluGluGluGluGlu)

Inframe Deletion
SLC38A5 transcript variant X5 XM_005272698.6:c.1388AGG[…

XM_005272698.6:c.1388AGG[8]

EEEEEEEEEEEEEEEEEEE [GAGG] > EEEEEEEEEEEEEEE [...

EEEEEEEEEEEEEEEEEEE [GAGG] > EEEEEEEEEEEEEEE [GCC]

Coding Sequence Variant
sodium-coupled neutral amino acid transporter 5 isoform X4 XP_005272755.2:p.Glu471_G…

XP_005272755.2:p.Glu471_Glu474del

EEEEEEEEEEEEEEEEEEE (GluG…

EEEEEEEEEEEEEEEEEEE (GluGluGluGluGluGluGluGluGluGluGluGluGluGluGluGluGluGluGlu) > EEEEEEEEEEEEEEE (GluGluGluGluGluGluGluGluGluGluGluGluGluGluGlu)

Inframe Deletion
SLC38A5 transcript variant X5 XM_005272698.6:c.1388AGG[…

XM_005272698.6:c.1388AGG[9]

EEEEEEEEEEEEEEEEEEE [GAGG] > EEEEEEEEEEEEEEEE [...

EEEEEEEEEEEEEEEEEEE [GAGG] > EEEEEEEEEEEEEEEE [GCC]

Coding Sequence Variant
sodium-coupled neutral amino acid transporter 5 isoform X4 XP_005272755.2:p.Glu472_G…

XP_005272755.2:p.Glu472_Glu474del

EEEEEEEEEEEEEEEEEEE (GluG…

EEEEEEEEEEEEEEEEEEE (GluGluGluGluGluGluGluGluGluGluGluGluGluGluGluGluGluGluGlu) > EEEEEEEEEEEEEEEE (GluGluGluGluGluGluGluGluGluGluGluGluGluGluGluGlu)

Inframe Deletion
SLC38A5 transcript variant X5 XM_005272698.6:c.1388AGG[…

XM_005272698.6:c.1388AGG[10]

EEEEEEEEEEEEEEEEEEE [GAGG] > EEEEEEEEEEEEEEEEE [...

EEEEEEEEEEEEEEEEEEE [GAGG] > EEEEEEEEEEEEEEEEE [GCC]

Coding Sequence Variant
sodium-coupled neutral amino acid transporter 5 isoform X4 XP_005272755.2:p.Glu473_G…

XP_005272755.2:p.Glu473_Glu474del

EEEEEEEEEEEEEEEEEEE (GluG…

EEEEEEEEEEEEEEEEEEE (GluGluGluGluGluGluGluGluGluGluGluGluGluGluGluGluGluGluGlu) > EEEEEEEEEEEEEEEEE (GluGluGluGluGluGluGluGluGluGluGluGluGluGluGluGluGlu)

Inframe Deletion
SLC38A5 transcript variant X5 XM_005272698.6:c.1388AGG[…

XM_005272698.6:c.1388AGG[11]

EEEEEEEEEEEEEEEEEEE [GAGG] > EEEEEEEEEEEEEEEEEE [...

EEEEEEEEEEEEEEEEEEE [GAGG] > EEEEEEEEEEEEEEEEEE [GCC]

Coding Sequence Variant
sodium-coupled neutral amino acid transporter 5 isoform X4 XP_005272755.2:p.Glu474del EEEEEEEEEEEEEEEEEEE (GluG…

EEEEEEEEEEEEEEEEEEE (GluGluGluGluGluGluGluGluGluGluGluGluGluGluGluGluGluGluGlu) > EEEEEEEEEEEEEEEEEE (GluGluGluGluGluGluGluGluGluGluGluGluGluGluGluGluGluGlu)

Inframe Deletion
SLC38A5 transcript variant X5 XM_005272698.6:c.1388AGG[…

XM_005272698.6:c.1388AGG[13]

EEEEEEEEEEEEEEEEEEE [GCC] > EEEEEEEEEEEEEEEEEEEE [...

EEEEEEEEEEEEEEEEEEE [GCC] > EEEEEEEEEEEEEEEEEEEE [GAGGCC]

Coding Sequence Variant
sodium-coupled neutral amino acid transporter 5 isoform X4 XP_005272755.2:p.Glu474dup EEEEEEEEEEEEEEEEEEE (GluG…

EEEEEEEEEEEEEEEEEEE (GluGluGluGluGluGluGluGluGluGluGluGluGluGluGluGluGluGluGlu) > EEEEEEEEEEEEEEEEEEEE (GluGluGluGluGluGluGluGluGluGluGluGluGluGluGluGluGluGluGluGlu)

Inframe Insertion
SLC38A5 transcript variant X5 XM_005272698.6:c.1388AGG[…

XM_005272698.6:c.1388AGG[14]

EEEEEEEEEEEEEEEEEEE [GCC] > EEEEEEEEEEEEEEEEEEEEE [...

EEEEEEEEEEEEEEEEEEE [GCC] > EEEEEEEEEEEEEEEEEEEEE [GAGGAGGCC]

Coding Sequence Variant
sodium-coupled neutral amino acid transporter 5 isoform X4 XP_005272755.2:p.Glu473_G…

XP_005272755.2:p.Glu473_Glu474dup

EEEEEEEEEEEEEEEEEEE (GluG…

EEEEEEEEEEEEEEEEEEE (GluGluGluGluGluGluGluGluGluGluGluGluGluGluGluGluGluGluGlu) > EEEEEEEEEEEEEEEEEEEEE (GluGluGluGluGluGluGluGluGluGluGluGluGluGluGluGluGluGluGluGluGlu)

Inframe Insertion
SLC38A5 transcript variant X5 XM_005272698.6:c.1388AGG[…

XM_005272698.6:c.1388AGG[15]

EEEEEEEEEEEEEEEEEEE [GCC] > EEEEEEEEEEEEEEEEEEEEEE [...

EEEEEEEEEEEEEEEEEEE [GCC] > EEEEEEEEEEEEEEEEEEEEEE [GAGGAGGAGGCC]

Coding Sequence Variant
sodium-coupled neutral amino acid transporter 5 isoform X4 XP_005272755.2:p.Glu472_G…

XP_005272755.2:p.Glu472_Glu474dup

EEEEEEEEEEEEEEEEEEE (GluG…

EEEEEEEEEEEEEEEEEEE (GluGluGluGluGluGluGluGluGluGluGluGluGluGluGluGluGluGluGlu) > EEEEEEEEEEEEEEEEEEEEEE (GluGluGluGluGluGluGluGluGluGluGluGluGluGluGluGluGluGluGluGluGluGlu)

Inframe Insertion
SLC38A5 transcript variant X5 XM_005272698.6:c.1388AGG[…

XM_005272698.6:c.1388AGG[16]

EEEEEEEEEEEEEEEEEEE [GCC] > EEEEEEEEEEEEEEEEEEEEEEE [...

EEEEEEEEEEEEEEEEEEE [GCC] > EEEEEEEEEEEEEEEEEEEEEEE [GAGGAGGAGGAGGCC]

Coding Sequence Variant
sodium-coupled neutral amino acid transporter 5 isoform X4 XP_005272755.2:p.Glu471_G…

XP_005272755.2:p.Glu471_Glu474dup

EEEEEEEEEEEEEEEEEEE (GluG…

EEEEEEEEEEEEEEEEEEE (GluGluGluGluGluGluGluGluGluGluGluGluGluGluGluGluGluGluGlu) > EEEEEEEEEEEEEEEEEEEEEEE (GluGluGluGluGluGluGluGluGluGluGluGluGluGluGluGluGluGluGluGluGluGluGlu)

Inframe Insertion
SLC38A5 transcript variant X5 XM_005272698.6:c.1388AGG[…

XM_005272698.6:c.1388AGG[17]

EEEEEEEEEEEEEEEEEEE [GCC] > EEEEEEEEEEEEEEEEEEEEEEEE [...

EEEEEEEEEEEEEEEEEEE [GCC] > EEEEEEEEEEEEEEEEEEEEEEEE [GAGGAGGAGGAGGAGGCC]

Coding Sequence Variant
sodium-coupled neutral amino acid transporter 5 isoform X4 XP_005272755.2:p.Glu470_G…

XP_005272755.2:p.Glu470_Glu474dup

EEEEEEEEEEEEEEEEEEE (GluG…

EEEEEEEEEEEEEEEEEEE (GluGluGluGluGluGluGluGluGluGluGluGluGluGluGluGluGluGluGlu) > EEEEEEEEEEEEEEEEEEEEEEEE (GluGluGluGluGluGluGluGluGluGluGluGluGluGluGluGluGluGluGluGluGluGluGluGlu)

Inframe Insertion
SLC38A5 transcript variant X5 XM_005272698.6:c.1388AGG[…

XM_005272698.6:c.1388AGG[18]

EEEEEEEEEEEEEEEEEEE [GCC] > EEEEEEEEEEEEEEEEEEEEEEEEE [...

EEEEEEEEEEEEEEEEEEE [GCC] > EEEEEEEEEEEEEEEEEEEEEEEEE [GAGGAGGAGGAGGAGGAGGCC]

Coding Sequence Variant
sodium-coupled neutral amino acid transporter 5 isoform X4 XP_005272755.2:p.Glu469_G…

XP_005272755.2:p.Glu469_Glu474dup

EEEEEEEEEEEEEEEEEEE (GluG…

EEEEEEEEEEEEEEEEEEE (GluGluGluGluGluGluGluGluGluGluGluGluGluGluGluGluGluGluGlu) > EEEEEEEEEEEEEEEEEEEEEEEEE (GluGluGluGluGluGluGluGluGluGluGluGluGluGluGluGluGluGluGluGluGluGluGluGluGlu)

Inframe Insertion
SLC38A5 transcript variant X5 XM_005272698.6:c.1388AGG[…

XM_005272698.6:c.1388AGG[19]

EEEEEEEEEEEEEEEEEEE [GCC] > EEEEEEEEEEEEEEEEEEEEEEEEEE [...

EEEEEEEEEEEEEEEEEEE [GCC] > EEEEEEEEEEEEEEEEEEEEEEEEEE [GAGGAGGAGGAGGAGGAGGAGGCC]

Coding Sequence Variant
sodium-coupled neutral amino acid transporter 5 isoform X4 XP_005272755.2:p.Glu468_G…

XP_005272755.2:p.Glu468_Glu474dup

EEEEEEEEEEEEEEEEEEE (GluG…

EEEEEEEEEEEEEEEEEEE (GluGluGluGluGluGluGluGluGluGluGluGluGluGluGluGluGluGluGlu) > EEEEEEEEEEEEEEEEEEEEEEEEEE (GluGluGluGluGluGluGluGluGluGluGluGluGluGluGluGluGluGluGluGluGluGluGluGluGluGlu)

Inframe Insertion
Help

Clinical Significance tab shows a list of clinical significance entries from ClinVar associated with the variation, per allele. Click on the RCV accession (i.e. RCV000001615.2) or Allele ID (i.e. 12274) to access full ClinVar report.

Not Reported in ClinVar
Help

Aliases tab displays HGVS names representing the variant placements and allele changes on genomic, transcript and protein sequences, per allele. HGVS name is an expression for reporting sequence accession and version, sequence type, position, and allele change. The column "Note" can have two values: "diff" means that there is a difference between the reference allele (variation interval) at the placement reported in HGVS name and the reference alleles reported in other HGVS names, and "rev" means that the sequence of this variation interval at the placement reported in HGVS name is in reverse orientation to the sequence(s) of this variation in other HGVS names not labeled as "rev".

Placement (CCT)12C= del(CTC)7 del(CTC)6 del(CTC)5 del(CTC)4 del(CTC)3 del(CTC)2 delCTC dupCTC dup(CTC)2 dup(CTC)3 dup(CTC)4 dup(CTC)5 dup(CTC)6 dup(CTC)7
GRCh38.p14 chr X NC_000023.11:g.48458659_48458695= NC_000023.11:g.48458660CTC[5] NC_000023.11:g.48458660CTC[6] NC_000023.11:g.48458660CTC[7] NC_000023.11:g.48458660CTC[8] NC_000023.11:g.48458660CTC[9] NC_000023.11:g.48458660CTC[10] NC_000023.11:g.48458660CTC[11] NC_000023.11:g.48458660CTC[13] NC_000023.11:g.48458660CTC[14] NC_000023.11:g.48458660CTC[15] NC_000023.11:g.48458660CTC[16] NC_000023.11:g.48458660CTC[17] NC_000023.11:g.48458660CTC[18] NC_000023.11:g.48458660CTC[19]
GRCh37.p13 chr X fix patch HG1436_HG1432_PATCH NW_004070880.2:g.698088_698124= NW_004070880.2:g.698089CTC[5] NW_004070880.2:g.698089CTC[6] NW_004070880.2:g.698089CTC[7] NW_004070880.2:g.698089CTC[8] NW_004070880.2:g.698089CTC[9] NW_004070880.2:g.698089CTC[10] NW_004070880.2:g.698089CTC[11] NW_004070880.2:g.698089CTC[13] NW_004070880.2:g.698089CTC[14] NW_004070880.2:g.698089CTC[15] NW_004070880.2:g.698089CTC[16] NW_004070880.2:g.698089CTC[17] NW_004070880.2:g.698089CTC[18] NW_004070880.2:g.698089CTC[19]
SLC38A5 RefSeqGene NG_021469.2:g.16562_16598= NG_021469.2:g.16563AGG[5] NG_021469.2:g.16563AGG[6] NG_021469.2:g.16563AGG[7] NG_021469.2:g.16563AGG[8] NG_021469.2:g.16563AGG[9] NG_021469.2:g.16563AGG[10] NG_021469.2:g.16563AGG[11] NG_021469.2:g.16563AGG[13] NG_021469.2:g.16563AGG[14] NG_021469.2:g.16563AGG[15] NG_021469.2:g.16563AGG[16] NG_021469.2:g.16563AGG[17] NG_021469.2:g.16563AGG[18] NG_021469.2:g.16563AGG[19]
SLC38A5 transcript NM_033518.4:c.*238_*274= NM_033518.4:c.*239AGG[5] NM_033518.4:c.*239AGG[6] NM_033518.4:c.*239AGG[7] NM_033518.4:c.*239AGG[8] NM_033518.4:c.*239AGG[9] NM_033518.4:c.*239AGG[10] NM_033518.4:c.*239AGG[11] NM_033518.4:c.*239AGG[13] NM_033518.4:c.*239AGG[14] NM_033518.4:c.*239AGG[15] NM_033518.4:c.*239AGG[16] NM_033518.4:c.*239AGG[17] NM_033518.4:c.*239AGG[18] NM_033518.4:c.*239AGG[19]
SLC38A5 transcript NM_033518.3:c.*238_*274= NM_033518.3:c.*239AGG[5] NM_033518.3:c.*239AGG[6] NM_033518.3:c.*239AGG[7] NM_033518.3:c.*239AGG[8] NM_033518.3:c.*239AGG[9] NM_033518.3:c.*239AGG[10] NM_033518.3:c.*239AGG[11] NM_033518.3:c.*239AGG[13] NM_033518.3:c.*239AGG[14] NM_033518.3:c.*239AGG[15] NM_033518.3:c.*239AGG[16] NM_033518.3:c.*239AGG[17] NM_033518.3:c.*239AGG[18] NM_033518.3:c.*239AGG[19]
SLC38A5 transcript NM_033518.2:c.*238_*277= NM_033518.2:c.*239AGG[6] NM_033518.2:c.*239AGG[7] NM_033518.2:c.*239AGG[8] NM_033518.2:c.*239AGG[9] NM_033518.2:c.*239AGG[10] NM_033518.2:c.*239AGG[11] NM_033518.2:c.*239AGG[12] NM_033518.2:c.*239AGG[14] NM_033518.2:c.*239AGG[15] NM_033518.2:c.*239AGG[16] NM_033518.2:c.*239AGG[17] NM_033518.2:c.*239AGG[18] NM_033518.2:c.*239AGG[19] NM_033518.2:c.*239AGG[20]
GRCh37.p13 chr X NC_000023.10:g.48317042_48317081= NC_000023.10:g.48317043CTC[6] NC_000023.10:g.48317043CTC[7] NC_000023.10:g.48317043CTC[8] NC_000023.10:g.48317043CTC[9] NC_000023.10:g.48317043CTC[10] NC_000023.10:g.48317043CTC[11] NC_000023.10:g.48317043CTC[12] NC_000023.10:g.48317043CTC[14] NC_000023.10:g.48317043CTC[15] NC_000023.10:g.48317043CTC[16] NC_000023.10:g.48317043CTC[17] NC_000023.10:g.48317043CTC[18] NC_000023.10:g.48317043CTC[19] NC_000023.10:g.48317043CTC[20]
SLC38A5 transcript variant X5 XM_005272698.6:c.1387_1423= XM_005272698.6:c.1388AGG[5] XM_005272698.6:c.1388AGG[6] XM_005272698.6:c.1388AGG[7] XM_005272698.6:c.1388AGG[8] XM_005272698.6:c.1388AGG[9] XM_005272698.6:c.1388AGG[10] XM_005272698.6:c.1388AGG[11] XM_005272698.6:c.1388AGG[13] XM_005272698.6:c.1388AGG[14] XM_005272698.6:c.1388AGG[15] XM_005272698.6:c.1388AGG[16] XM_005272698.6:c.1388AGG[17] XM_005272698.6:c.1388AGG[18] XM_005272698.6:c.1388AGG[19]
SLC38A5 transcript variant X5 XM_005272698.5:c.1387_1423= XM_005272698.5:c.1388AGG[5] XM_005272698.5:c.1388AGG[6] XM_005272698.5:c.1388AGG[7] XM_005272698.5:c.1388AGG[8] XM_005272698.5:c.1388AGG[9] XM_005272698.5:c.1388AGG[10] XM_005272698.5:c.1388AGG[11] XM_005272698.5:c.1388AGG[13] XM_005272698.5:c.1388AGG[14] XM_005272698.5:c.1388AGG[15] XM_005272698.5:c.1388AGG[16] XM_005272698.5:c.1388AGG[17] XM_005272698.5:c.1388AGG[18] XM_005272698.5:c.1388AGG[19]
SLC38A5 transcript variant X5 XM_005272698.4:c.1387_1423= XM_005272698.4:c.1388AGG[5] XM_005272698.4:c.1388AGG[6] XM_005272698.4:c.1388AGG[7] XM_005272698.4:c.1388AGG[8] XM_005272698.4:c.1388AGG[9] XM_005272698.4:c.1388AGG[10] XM_005272698.4:c.1388AGG[11] XM_005272698.4:c.1388AGG[13] XM_005272698.4:c.1388AGG[14] XM_005272698.4:c.1388AGG[15] XM_005272698.4:c.1388AGG[16] XM_005272698.4:c.1388AGG[17] XM_005272698.4:c.1388AGG[18] XM_005272698.4:c.1388AGG[19]
SLC38A5 transcript variant X5 XM_005272698.3:c.1387_1423= XM_005272698.3:c.1388AGG[5] XM_005272698.3:c.1388AGG[6] XM_005272698.3:c.1388AGG[7] XM_005272698.3:c.1388AGG[8] XM_005272698.3:c.1388AGG[9] XM_005272698.3:c.1388AGG[10] XM_005272698.3:c.1388AGG[11] XM_005272698.3:c.1388AGG[13] XM_005272698.3:c.1388AGG[14] XM_005272698.3:c.1388AGG[15] XM_005272698.3:c.1388AGG[16] XM_005272698.3:c.1388AGG[17] XM_005272698.3:c.1388AGG[18] XM_005272698.3:c.1388AGG[19]
SLC38A5 transcript variant X5 XM_005272698.2:c.1387_1423= XM_005272698.2:c.1388AGG[5] XM_005272698.2:c.1388AGG[6] XM_005272698.2:c.1388AGG[7] XM_005272698.2:c.1388AGG[8] XM_005272698.2:c.1388AGG[9] XM_005272698.2:c.1388AGG[10] XM_005272698.2:c.1388AGG[11] XM_005272698.2:c.1388AGG[13] XM_005272698.2:c.1388AGG[14] XM_005272698.2:c.1388AGG[15] XM_005272698.2:c.1388AGG[16] XM_005272698.2:c.1388AGG[17] XM_005272698.2:c.1388AGG[18] XM_005272698.2:c.1388AGG[19]
SLC38A5 transcript variant X5 XM_005272698.1:c.1387_1426= XM_005272698.1:c.1388AGG[6] XM_005272698.1:c.1388AGG[7] XM_005272698.1:c.1388AGG[8] XM_005272698.1:c.1388AGG[9] XM_005272698.1:c.1388AGG[10] XM_005272698.1:c.1388AGG[11] XM_005272698.1:c.1388AGG[12] XM_005272698.1:c.1388AGG[14] XM_005272698.1:c.1388AGG[15] XM_005272698.1:c.1388AGG[16] XM_005272698.1:c.1388AGG[17] XM_005272698.1:c.1388AGG[18] XM_005272698.1:c.1388AGG[19] XM_005272698.1:c.1388AGG[20]
SLC38A5 transcript variant X2 XM_005272695.5:c.*238_*274= XM_005272695.5:c.*239AGG[5] XM_005272695.5:c.*239AGG[6] XM_005272695.5:c.*239AGG[7] XM_005272695.5:c.*239AGG[8] XM_005272695.5:c.*239AGG[9] XM_005272695.5:c.*239AGG[10] XM_005272695.5:c.*239AGG[11] XM_005272695.5:c.*239AGG[13] XM_005272695.5:c.*239AGG[14] XM_005272695.5:c.*239AGG[15] XM_005272695.5:c.*239AGG[16] XM_005272695.5:c.*239AGG[17] XM_005272695.5:c.*239AGG[18] XM_005272695.5:c.*239AGG[19]
SLC38A5 transcript variant X2 XM_005272695.4:c.*238_*274= XM_005272695.4:c.*239AGG[5] XM_005272695.4:c.*239AGG[6] XM_005272695.4:c.*239AGG[7] XM_005272695.4:c.*239AGG[8] XM_005272695.4:c.*239AGG[9] XM_005272695.4:c.*239AGG[10] XM_005272695.4:c.*239AGG[11] XM_005272695.4:c.*239AGG[13] XM_005272695.4:c.*239AGG[14] XM_005272695.4:c.*239AGG[15] XM_005272695.4:c.*239AGG[16] XM_005272695.4:c.*239AGG[17] XM_005272695.4:c.*239AGG[18] XM_005272695.4:c.*239AGG[19]
SLC38A5 transcript variant X2 XM_005272695.3:c.*238_*274= XM_005272695.3:c.*239AGG[5] XM_005272695.3:c.*239AGG[6] XM_005272695.3:c.*239AGG[7] XM_005272695.3:c.*239AGG[8] XM_005272695.3:c.*239AGG[9] XM_005272695.3:c.*239AGG[10] XM_005272695.3:c.*239AGG[11] XM_005272695.3:c.*239AGG[13] XM_005272695.3:c.*239AGG[14] XM_005272695.3:c.*239AGG[15] XM_005272695.3:c.*239AGG[16] XM_005272695.3:c.*239AGG[17] XM_005272695.3:c.*239AGG[18] XM_005272695.3:c.*239AGG[19]
SLC38A5 transcript variant X2 XM_005272695.2:c.*238_*274= XM_005272695.2:c.*239AGG[5] XM_005272695.2:c.*239AGG[6] XM_005272695.2:c.*239AGG[7] XM_005272695.2:c.*239AGG[8] XM_005272695.2:c.*239AGG[9] XM_005272695.2:c.*239AGG[10] XM_005272695.2:c.*239AGG[11] XM_005272695.2:c.*239AGG[13] XM_005272695.2:c.*239AGG[14] XM_005272695.2:c.*239AGG[15] XM_005272695.2:c.*239AGG[16] XM_005272695.2:c.*239AGG[17] XM_005272695.2:c.*239AGG[18] XM_005272695.2:c.*239AGG[19]
SLC38A5 transcript variant X2 XM_005272695.1:c.*238_*277= XM_005272695.1:c.*239AGG[6] XM_005272695.1:c.*239AGG[7] XM_005272695.1:c.*239AGG[8] XM_005272695.1:c.*239AGG[9] XM_005272695.1:c.*239AGG[10] XM_005272695.1:c.*239AGG[11] XM_005272695.1:c.*239AGG[12] XM_005272695.1:c.*239AGG[14] XM_005272695.1:c.*239AGG[15] XM_005272695.1:c.*239AGG[16] XM_005272695.1:c.*239AGG[17] XM_005272695.1:c.*239AGG[18] XM_005272695.1:c.*239AGG[19] XM_005272695.1:c.*239AGG[20]
SLC38A5 transcript variant X1 XM_005272694.4:c.1528_1564= XM_005272694.4:c.1529AGG[5] XM_005272694.4:c.1529AGG[6] XM_005272694.4:c.1529AGG[7] XM_005272694.4:c.1529AGG[8] XM_005272694.4:c.1529AGG[9] XM_005272694.4:c.1529AGG[10] XM_005272694.4:c.1529AGG[11] XM_005272694.4:c.1529AGG[13] XM_005272694.4:c.1529AGG[14] XM_005272694.4:c.1529AGG[15] XM_005272694.4:c.1529AGG[16] XM_005272694.4:c.1529AGG[17] XM_005272694.4:c.1529AGG[18] XM_005272694.4:c.1529AGG[19]
SLC38A5 transcript variant X1 XM_005272694.3:c.1528_1564= XM_005272694.3:c.1529AGG[5] XM_005272694.3:c.1529AGG[6] XM_005272694.3:c.1529AGG[7] XM_005272694.3:c.1529AGG[8] XM_005272694.3:c.1529AGG[9] XM_005272694.3:c.1529AGG[10] XM_005272694.3:c.1529AGG[11] XM_005272694.3:c.1529AGG[13] XM_005272694.3:c.1529AGG[14] XM_005272694.3:c.1529AGG[15] XM_005272694.3:c.1529AGG[16] XM_005272694.3:c.1529AGG[17] XM_005272694.3:c.1529AGG[18] XM_005272694.3:c.1529AGG[19]
SLC38A5 transcript variant X1 XM_005272694.2:c.1528_1564= XM_005272694.2:c.1529AGG[5] XM_005272694.2:c.1529AGG[6] XM_005272694.2:c.1529AGG[7] XM_005272694.2:c.1529AGG[8] XM_005272694.2:c.1529AGG[9] XM_005272694.2:c.1529AGG[10] XM_005272694.2:c.1529AGG[11] XM_005272694.2:c.1529AGG[13] XM_005272694.2:c.1529AGG[14] XM_005272694.2:c.1529AGG[15] XM_005272694.2:c.1529AGG[16] XM_005272694.2:c.1529AGG[17] XM_005272694.2:c.1529AGG[18] XM_005272694.2:c.1529AGG[19]
SLC38A5 transcript variant X1 XM_005272694.1:c.1528_1567= XM_005272694.1:c.1529AGG[6] XM_005272694.1:c.1529AGG[7] XM_005272694.1:c.1529AGG[8] XM_005272694.1:c.1529AGG[9] XM_005272694.1:c.1529AGG[10] XM_005272694.1:c.1529AGG[11] XM_005272694.1:c.1529AGG[12] XM_005272694.1:c.1529AGG[14] XM_005272694.1:c.1529AGG[15] XM_005272694.1:c.1529AGG[16] XM_005272694.1:c.1529AGG[17] XM_005272694.1:c.1529AGG[18] XM_005272694.1:c.1529AGG[19] XM_005272694.1:c.1529AGG[20]
SLC38A5 transcript variant X4 XM_006724569.4:c.1387_1423= XM_006724569.4:c.1388AGG[5] XM_006724569.4:c.1388AGG[6] XM_006724569.4:c.1388AGG[7] XM_006724569.4:c.1388AGG[8] XM_006724569.4:c.1388AGG[9] XM_006724569.4:c.1388AGG[10] XM_006724569.4:c.1388AGG[11] XM_006724569.4:c.1388AGG[13] XM_006724569.4:c.1388AGG[14] XM_006724569.4:c.1388AGG[15] XM_006724569.4:c.1388AGG[16] XM_006724569.4:c.1388AGG[17] XM_006724569.4:c.1388AGG[18] XM_006724569.4:c.1388AGG[19]
SLC38A5 transcript variant X4 XM_006724569.3:c.1387_1423= XM_006724569.3:c.1388AGG[5] XM_006724569.3:c.1388AGG[6] XM_006724569.3:c.1388AGG[7] XM_006724569.3:c.1388AGG[8] XM_006724569.3:c.1388AGG[9] XM_006724569.3:c.1388AGG[10] XM_006724569.3:c.1388AGG[11] XM_006724569.3:c.1388AGG[13] XM_006724569.3:c.1388AGG[14] XM_006724569.3:c.1388AGG[15] XM_006724569.3:c.1388AGG[16] XM_006724569.3:c.1388AGG[17] XM_006724569.3:c.1388AGG[18] XM_006724569.3:c.1388AGG[19]
SLC38A5 transcript variant X4 XM_006724569.2:c.1387_1423= XM_006724569.2:c.1388AGG[5] XM_006724569.2:c.1388AGG[6] XM_006724569.2:c.1388AGG[7] XM_006724569.2:c.1388AGG[8] XM_006724569.2:c.1388AGG[9] XM_006724569.2:c.1388AGG[10] XM_006724569.2:c.1388AGG[11] XM_006724569.2:c.1388AGG[13] XM_006724569.2:c.1388AGG[14] XM_006724569.2:c.1388AGG[15] XM_006724569.2:c.1388AGG[16] XM_006724569.2:c.1388AGG[17] XM_006724569.2:c.1388AGG[18] XM_006724569.2:c.1388AGG[19]
SLC38A5 transcript variant X6 XM_006724569.1:c.1387_1423= XM_006724569.1:c.1388AGG[5] XM_006724569.1:c.1388AGG[6] XM_006724569.1:c.1388AGG[7] XM_006724569.1:c.1388AGG[8] XM_006724569.1:c.1388AGG[9] XM_006724569.1:c.1388AGG[10] XM_006724569.1:c.1388AGG[11] XM_006724569.1:c.1388AGG[13] XM_006724569.1:c.1388AGG[14] XM_006724569.1:c.1388AGG[15] XM_006724569.1:c.1388AGG[16] XM_006724569.1:c.1388AGG[17] XM_006724569.1:c.1388AGG[18] XM_006724569.1:c.1388AGG[19]
SLC38A5 transcript variant X7 XM_017029961.3:c.*238_*274= XM_017029961.3:c.*239AGG[5] XM_017029961.3:c.*239AGG[6] XM_017029961.3:c.*239AGG[7] XM_017029961.3:c.*239AGG[8] XM_017029961.3:c.*239AGG[9] XM_017029961.3:c.*239AGG[10] XM_017029961.3:c.*239AGG[11] XM_017029961.3:c.*239AGG[13] XM_017029961.3:c.*239AGG[14] XM_017029961.3:c.*239AGG[15] XM_017029961.3:c.*239AGG[16] XM_017029961.3:c.*239AGG[17] XM_017029961.3:c.*239AGG[18] XM_017029961.3:c.*239AGG[19]
SLC38A5 transcript variant X7 XM_017029961.2:c.*238_*274= XM_017029961.2:c.*239AGG[5] XM_017029961.2:c.*239AGG[6] XM_017029961.2:c.*239AGG[7] XM_017029961.2:c.*239AGG[8] XM_017029961.2:c.*239AGG[9] XM_017029961.2:c.*239AGG[10] XM_017029961.2:c.*239AGG[11] XM_017029961.2:c.*239AGG[13] XM_017029961.2:c.*239AGG[14] XM_017029961.2:c.*239AGG[15] XM_017029961.2:c.*239AGG[16] XM_017029961.2:c.*239AGG[17] XM_017029961.2:c.*239AGG[18] XM_017029961.2:c.*239AGG[19]
SLC38A5 transcript variant X7 XM_017029961.1:c.*238_*274= XM_017029961.1:c.*239AGG[5] XM_017029961.1:c.*239AGG[6] XM_017029961.1:c.*239AGG[7] XM_017029961.1:c.*239AGG[8] XM_017029961.1:c.*239AGG[9] XM_017029961.1:c.*239AGG[10] XM_017029961.1:c.*239AGG[11] XM_017029961.1:c.*239AGG[13] XM_017029961.1:c.*239AGG[14] XM_017029961.1:c.*239AGG[15] XM_017029961.1:c.*239AGG[16] XM_017029961.1:c.*239AGG[17] XM_017029961.1:c.*239AGG[18] XM_017029961.1:c.*239AGG[19]
SLC38A5 transcript variant X3 XM_005272697.3:c.1405_1441= XM_005272697.3:c.1406AGG[5] XM_005272697.3:c.1406AGG[6] XM_005272697.3:c.1406AGG[7] XM_005272697.3:c.1406AGG[8] XM_005272697.3:c.1406AGG[9] XM_005272697.3:c.1406AGG[10] XM_005272697.3:c.1406AGG[11] XM_005272697.3:c.1406AGG[13] XM_005272697.3:c.1406AGG[14] XM_005272697.3:c.1406AGG[15] XM_005272697.3:c.1406AGG[16] XM_005272697.3:c.1406AGG[17] XM_005272697.3:c.1406AGG[18] XM_005272697.3:c.1406AGG[19]
SLC38A5 transcript variant X3 XM_005272697.2:c.1405_1441= XM_005272697.2:c.1406AGG[5] XM_005272697.2:c.1406AGG[6] XM_005272697.2:c.1406AGG[7] XM_005272697.2:c.1406AGG[8] XM_005272697.2:c.1406AGG[9] XM_005272697.2:c.1406AGG[10] XM_005272697.2:c.1406AGG[11] XM_005272697.2:c.1406AGG[13] XM_005272697.2:c.1406AGG[14] XM_005272697.2:c.1406AGG[15] XM_005272697.2:c.1406AGG[16] XM_005272697.2:c.1406AGG[17] XM_005272697.2:c.1406AGG[18] XM_005272697.2:c.1406AGG[19]
SLC38A5 transcript variant X4 XM_005272697.1:c.1405_1444= XM_005272697.1:c.1406AGG[6] XM_005272697.1:c.1406AGG[7] XM_005272697.1:c.1406AGG[8] XM_005272697.1:c.1406AGG[9] XM_005272697.1:c.1406AGG[10] XM_005272697.1:c.1406AGG[11] XM_005272697.1:c.1406AGG[12] XM_005272697.1:c.1406AGG[14] XM_005272697.1:c.1406AGG[15] XM_005272697.1:c.1406AGG[16] XM_005272697.1:c.1406AGG[17] XM_005272697.1:c.1406AGG[18] XM_005272697.1:c.1406AGG[19] XM_005272697.1:c.1406AGG[20]
SLC38A5 transcript variant X6 XM_017029960.2:c.*238_*274= XM_017029960.2:c.*239AGG[5] XM_017029960.2:c.*239AGG[6] XM_017029960.2:c.*239AGG[7] XM_017029960.2:c.*239AGG[8] XM_017029960.2:c.*239AGG[9] XM_017029960.2:c.*239AGG[10] XM_017029960.2:c.*239AGG[11] XM_017029960.2:c.*239AGG[13] XM_017029960.2:c.*239AGG[14] XM_017029960.2:c.*239AGG[15] XM_017029960.2:c.*239AGG[16] XM_017029960.2:c.*239AGG[17] XM_017029960.2:c.*239AGG[18] XM_017029960.2:c.*239AGG[19]
SLC38A5 transcript variant X6 XM_017029960.1:c.*238_*274= XM_017029960.1:c.*239AGG[5] XM_017029960.1:c.*239AGG[6] XM_017029960.1:c.*239AGG[7] XM_017029960.1:c.*239AGG[8] XM_017029960.1:c.*239AGG[9] XM_017029960.1:c.*239AGG[10] XM_017029960.1:c.*239AGG[11] XM_017029960.1:c.*239AGG[13] XM_017029960.1:c.*239AGG[14] XM_017029960.1:c.*239AGG[15] XM_017029960.1:c.*239AGG[16] XM_017029960.1:c.*239AGG[17] XM_017029960.1:c.*239AGG[18] XM_017029960.1:c.*239AGG[19]
sodium-coupled neutral amino acid transporter 5 isoform X4 XP_005272755.2:p.Glu463_Ala475= XP_005272755.2:p.Glu468_Glu474del XP_005272755.2:p.Glu469_Glu474del XP_005272755.2:p.Glu470_Glu474del XP_005272755.2:p.Glu471_Glu474del XP_005272755.2:p.Glu472_Glu474del XP_005272755.2:p.Glu473_Glu474del XP_005272755.2:p.Glu474del XP_005272755.2:p.Glu474dup XP_005272755.2:p.Glu473_Glu474dup XP_005272755.2:p.Glu472_Glu474dup XP_005272755.2:p.Glu471_Glu474dup XP_005272755.2:p.Glu470_Glu474dup XP_005272755.2:p.Glu469_Glu474dup XP_005272755.2:p.Glu468_Glu474dup
sodium-coupled neutral amino acid transporter 5 isoform X1 XP_005272751.2:p.Glu510_Ala522= XP_005272751.2:p.Glu515_Glu521del XP_005272751.2:p.Glu516_Glu521del XP_005272751.2:p.Glu517_Glu521del XP_005272751.2:p.Glu518_Glu521del XP_005272751.2:p.Glu519_Glu521del XP_005272751.2:p.Glu520_Glu521del XP_005272751.2:p.Glu521del XP_005272751.2:p.Glu521dup XP_005272751.2:p.Glu520_Glu521dup XP_005272751.2:p.Glu519_Glu521dup XP_005272751.2:p.Glu518_Glu521dup XP_005272751.2:p.Glu517_Glu521dup XP_005272751.2:p.Glu516_Glu521dup XP_005272751.2:p.Glu515_Glu521dup
sodium-coupled neutral amino acid transporter 5 isoform X4 XP_006724632.1:p.Glu463_Ala475= XP_006724632.1:p.Glu468_Glu474del XP_006724632.1:p.Glu469_Glu474del XP_006724632.1:p.Glu470_Glu474del XP_006724632.1:p.Glu471_Glu474del XP_006724632.1:p.Glu472_Glu474del XP_006724632.1:p.Glu473_Glu474del XP_006724632.1:p.Glu474del XP_006724632.1:p.Glu474dup XP_006724632.1:p.Glu473_Glu474dup XP_006724632.1:p.Glu472_Glu474dup XP_006724632.1:p.Glu471_Glu474dup XP_006724632.1:p.Glu470_Glu474dup XP_006724632.1:p.Glu469_Glu474dup XP_006724632.1:p.Glu468_Glu474dup
sodium-coupled neutral amino acid transporter 5 isoform X3 XP_005272754.2:p.Glu469_Ala481= XP_005272754.2:p.Glu474_Glu480del XP_005272754.2:p.Glu475_Glu480del XP_005272754.2:p.Glu476_Glu480del XP_005272754.2:p.Glu477_Glu480del XP_005272754.2:p.Glu478_Glu480del XP_005272754.2:p.Glu479_Glu480del XP_005272754.2:p.Glu480del XP_005272754.2:p.Glu480dup XP_005272754.2:p.Glu479_Glu480dup XP_005272754.2:p.Glu478_Glu480dup XP_005272754.2:p.Glu477_Glu480dup XP_005272754.2:p.Glu476_Glu480dup XP_005272754.2:p.Glu475_Glu480dup XP_005272754.2:p.Glu474_Glu480dup
sodium-coupled neutral amino acid transporter 5 isoform X1 XP_005272751.1:p.Glu510_Ala523= XP_005272751.1:p.Glu516_Glu522del XP_005272751.1:p.Glu517_Glu522del XP_005272751.1:p.Glu518_Glu522del XP_005272751.1:p.Glu519_Glu522del XP_005272751.1:p.Glu520_Glu522del XP_005272751.1:p.Glu521_Glu522del XP_005272751.1:p.Glu522del XP_005272751.1:p.Glu522dup XP_005272751.1:p.Glu521_Glu522dup XP_005272751.1:p.Glu520_Glu522dup XP_005272751.1:p.Glu519_Glu522dup XP_005272751.1:p.Glu518_Glu522dup XP_005272751.1:p.Glu517_Glu522dup XP_005272751.1:p.Glu516_Glu522dup
sodium-coupled neutral amino acid transporter 5 isoform X4 XP_005272754.1:p.Glu469_Ala482= XP_005272754.1:p.Glu475_Glu481del XP_005272754.1:p.Glu476_Glu481del XP_005272754.1:p.Glu477_Glu481del XP_005272754.1:p.Glu478_Glu481del XP_005272754.1:p.Glu479_Glu481del XP_005272754.1:p.Glu480_Glu481del XP_005272754.1:p.Glu481del XP_005272754.1:p.Glu481dup XP_005272754.1:p.Glu480_Glu481dup XP_005272754.1:p.Glu479_Glu481dup XP_005272754.1:p.Glu478_Glu481dup XP_005272754.1:p.Glu477_Glu481dup XP_005272754.1:p.Glu476_Glu481dup XP_005272754.1:p.Glu475_Glu481dup
sodium-coupled neutral amino acid transporter 5 isoform X5 XP_005272755.1:p.Glu463_Ala476= XP_005272755.1:p.Glu469_Glu475del XP_005272755.1:p.Glu470_Glu475del XP_005272755.1:p.Glu471_Glu475del XP_005272755.1:p.Glu472_Glu475del XP_005272755.1:p.Glu473_Glu475del XP_005272755.1:p.Glu474_Glu475del XP_005272755.1:p.Glu475del XP_005272755.1:p.Glu475dup XP_005272755.1:p.Glu474_Glu475dup XP_005272755.1:p.Glu473_Glu475dup XP_005272755.1:p.Glu472_Glu475dup XP_005272755.1:p.Glu471_Glu475dup XP_005272755.1:p.Glu470_Glu475dup XP_005272755.1:p.Glu469_Glu475dup
Help

Submissions tab displays variations originally submitted to dbSNP, now supporting this RefSNP cluster (rs). We display Submitter handle, Submission identifier, Date and Build number, when the submission appeared for the first time. Direct submissions to dbSNP have Submission ID in the form of an ss-prefixed number (ss#). Other supporting variations are listed in the table without ss#.

45 SubSNP, 25 Frequency submissions
No Submitter Submission ID Date (Build)
1 SSMP ss664569272 Apr 09, 2015 (144)
2 SSIP ss947422565 Apr 09, 2015 (144)
3 1000GENOMES ss1554350989 Apr 09, 2015 (144)
4 EVA_GENOME_DK ss1577562490 Apr 09, 2015 (144)
5 TMC_SNPDB ss1997229918 Sep 28, 2016 (149)
6 SWEGEN ss3019936762 Oct 13, 2018 (152)
7 MCHAISSO ss3065262010 Nov 08, 2017 (151)
8 URBANLAB ss3651272373 Oct 13, 2018 (152)
9 EVA ss3836166905 Apr 27, 2020 (154)
10 GNOMAD ss4371149858 Apr 27, 2021 (155)
11 GNOMAD ss4371149859 Apr 27, 2021 (155)
12 GNOMAD ss4371149860 Apr 27, 2021 (155)
13 GNOMAD ss4371149861 Apr 27, 2021 (155)
14 GNOMAD ss4371149862 Apr 27, 2021 (155)
15 GNOMAD ss4371149863 Apr 27, 2021 (155)
16 GNOMAD ss4371149865 Apr 27, 2021 (155)
17 GNOMAD ss4371149866 Apr 27, 2021 (155)
18 GNOMAD ss4371149867 Apr 27, 2021 (155)
19 GNOMAD ss4371149868 Apr 27, 2021 (155)
20 GNOMAD ss4371149869 Apr 27, 2021 (155)
21 TOPMED ss5122151410 Apr 27, 2021 (155)
22 TOPMED ss5122151411 Apr 27, 2021 (155)
23 TOPMED ss5122151412 Apr 27, 2021 (155)
24 TOPMED ss5122151413 Apr 27, 2021 (155)
25 TOMMO_GENOMICS ss5234375203 Apr 27, 2021 (155)
26 TOMMO_GENOMICS ss5234375204 Apr 27, 2021 (155)
27 TOMMO_GENOMICS ss5234375205 Apr 27, 2021 (155)
28 TOMMO_GENOMICS ss5234375206 Apr 27, 2021 (155)
29 1000G_HIGH_COVERAGE ss5312478835 Oct 16, 2022 (156)
30 1000G_HIGH_COVERAGE ss5312478836 Oct 16, 2022 (156)
31 1000G_HIGH_COVERAGE ss5312478837 Oct 16, 2022 (156)
32 1000G_HIGH_COVERAGE ss5312478838 Oct 16, 2022 (156)
33 1000G_HIGH_COVERAGE ss5312478839 Oct 16, 2022 (156)
34 HUGCELL_USP ss5504152906 Oct 16, 2022 (156)
35 HUGCELL_USP ss5504152907 Oct 16, 2022 (156)
36 HUGCELL_USP ss5504152908 Oct 16, 2022 (156)
37 HUGCELL_USP ss5504152909 Oct 16, 2022 (156)
38 TOMMO_GENOMICS ss5796054901 Oct 16, 2022 (156)
39 TOMMO_GENOMICS ss5796054902 Oct 16, 2022 (156)
40 TOMMO_GENOMICS ss5796054903 Oct 16, 2022 (156)
41 TOMMO_GENOMICS ss5796054904 Oct 16, 2022 (156)
42 TOMMO_GENOMICS ss5796054905 Oct 16, 2022 (156)
43 EVA ss5936479218 Oct 16, 2022 (156)
44 EVA ss5936479219 Oct 16, 2022 (156)
45 EVA ss5981156645 Oct 16, 2022 (156)
46 gnomAD - Genomes

Submission ignored due to conflicting rows:
Row 580180152 (NC_000023.11:48458658::CCT 47357/88317)
Row 580180153 (NC_000023.11:48458658::CCTCCT 7680/88361)
Row 580180154 (NC_000023.11:48458658::CCTCCTCCT 3319/88397)...

- Apr 27, 2021 (155)
47 gnomAD - Genomes

Submission ignored due to conflicting rows:
Row 580180152 (NC_000023.11:48458658::CCT 47357/88317)
Row 580180153 (NC_000023.11:48458658::CCTCCT 7680/88361)
Row 580180154 (NC_000023.11:48458658::CCTCCTCCT 3319/88397)...

- Apr 27, 2021 (155)
48 gnomAD - Genomes

Submission ignored due to conflicting rows:
Row 580180152 (NC_000023.11:48458658::CCT 47357/88317)
Row 580180153 (NC_000023.11:48458658::CCTCCT 7680/88361)
Row 580180154 (NC_000023.11:48458658::CCTCCTCCT 3319/88397)...

- Apr 27, 2021 (155)
49 gnomAD - Genomes

Submission ignored due to conflicting rows:
Row 580180152 (NC_000023.11:48458658::CCT 47357/88317)
Row 580180153 (NC_000023.11:48458658::CCTCCT 7680/88361)
Row 580180154 (NC_000023.11:48458658::CCTCCTCCT 3319/88397)...

- Apr 27, 2021 (155)
50 gnomAD - Genomes

Submission ignored due to conflicting rows:
Row 580180152 (NC_000023.11:48458658::CCT 47357/88317)
Row 580180153 (NC_000023.11:48458658::CCTCCT 7680/88361)
Row 580180154 (NC_000023.11:48458658::CCTCCTCCT 3319/88397)...

- Apr 27, 2021 (155)
51 gnomAD - Genomes

Submission ignored due to conflicting rows:
Row 580180152 (NC_000023.11:48458658::CCT 47357/88317)
Row 580180153 (NC_000023.11:48458658::CCTCCT 7680/88361)
Row 580180154 (NC_000023.11:48458658::CCTCCTCCT 3319/88397)...

- Apr 27, 2021 (155)
52 gnomAD - Genomes

Submission ignored due to conflicting rows:
Row 580180152 (NC_000023.11:48458658::CCT 47357/88317)
Row 580180153 (NC_000023.11:48458658::CCTCCT 7680/88361)
Row 580180154 (NC_000023.11:48458658::CCTCCTCCT 3319/88397)...

- Apr 27, 2021 (155)
53 gnomAD - Genomes

Submission ignored due to conflicting rows:
Row 580180152 (NC_000023.11:48458658::CCT 47357/88317)
Row 580180153 (NC_000023.11:48458658::CCTCCT 7680/88361)
Row 580180154 (NC_000023.11:48458658::CCTCCTCCT 3319/88397)...

- Apr 27, 2021 (155)
54 gnomAD - Genomes

Submission ignored due to conflicting rows:
Row 580180152 (NC_000023.11:48458658::CCT 47357/88317)
Row 580180153 (NC_000023.11:48458658::CCTCCT 7680/88361)
Row 580180154 (NC_000023.11:48458658::CCTCCTCCT 3319/88397)...

- Apr 27, 2021 (155)
55 gnomAD - Genomes

Submission ignored due to conflicting rows:
Row 580180152 (NC_000023.11:48458658::CCT 47357/88317)
Row 580180153 (NC_000023.11:48458658::CCTCCT 7680/88361)
Row 580180154 (NC_000023.11:48458658::CCTCCTCCT 3319/88397)...

- Apr 27, 2021 (155)
56 gnomAD - Genomes

Submission ignored due to conflicting rows:
Row 580180152 (NC_000023.11:48458658::CCT 47357/88317)
Row 580180153 (NC_000023.11:48458658::CCTCCT 7680/88361)
Row 580180154 (NC_000023.11:48458658::CCTCCTCCT 3319/88397)...

- Apr 27, 2021 (155)
57 8.3KJPN

Submission ignored due to conflicting rows:
Row 92344510 (NC_000023.10:48317041:CCT: 6436/12807)
Row 92344511 (NC_000023.10:48317041:CCTCCT: 180/12807)
Row 92344512 (NC_000023.10:48317041:CCTCCTCCT: 160/12807)...

- Apr 27, 2021 (155)
58 8.3KJPN

Submission ignored due to conflicting rows:
Row 92344510 (NC_000023.10:48317041:CCT: 6436/12807)
Row 92344511 (NC_000023.10:48317041:CCTCCT: 180/12807)
Row 92344512 (NC_000023.10:48317041:CCTCCTCCT: 160/12807)...

- Apr 27, 2021 (155)
59 8.3KJPN

Submission ignored due to conflicting rows:
Row 92344510 (NC_000023.10:48317041:CCT: 6436/12807)
Row 92344511 (NC_000023.10:48317041:CCTCCT: 180/12807)
Row 92344512 (NC_000023.10:48317041:CCTCCTCCT: 160/12807)...

- Apr 27, 2021 (155)
60 8.3KJPN

Submission ignored due to conflicting rows:
Row 92344510 (NC_000023.10:48317041:CCT: 6436/12807)
Row 92344511 (NC_000023.10:48317041:CCTCCT: 180/12807)
Row 92344512 (NC_000023.10:48317041:CCTCCTCCT: 160/12807)...

- Apr 27, 2021 (155)
61 14KJPN

Submission ignored due to conflicting rows:
Row 129892005 (NC_000023.11:48458658::CCT 9340/22203)
Row 129892006 (NC_000023.11:48458658::CCTCCT 153/22203)
Row 129892007 (NC_000023.11:48458658:CCTCCT: 281/22203)...

- Oct 16, 2022 (156)
62 14KJPN

Submission ignored due to conflicting rows:
Row 129892005 (NC_000023.11:48458658::CCT 9340/22203)
Row 129892006 (NC_000023.11:48458658::CCTCCT 153/22203)
Row 129892007 (NC_000023.11:48458658:CCTCCT: 281/22203)...

- Oct 16, 2022 (156)
63 14KJPN

Submission ignored due to conflicting rows:
Row 129892005 (NC_000023.11:48458658::CCT 9340/22203)
Row 129892006 (NC_000023.11:48458658::CCTCCT 153/22203)
Row 129892007 (NC_000023.11:48458658:CCTCCT: 281/22203)...

- Oct 16, 2022 (156)
64 14KJPN

Submission ignored due to conflicting rows:
Row 129892005 (NC_000023.11:48458658::CCT 9340/22203)
Row 129892006 (NC_000023.11:48458658::CCTCCT 153/22203)
Row 129892007 (NC_000023.11:48458658:CCTCCT: 281/22203)...

- Oct 16, 2022 (156)
65 14KJPN

Submission ignored due to conflicting rows:
Row 129892005 (NC_000023.11:48458658::CCT 9340/22203)
Row 129892006 (NC_000023.11:48458658::CCTCCT 153/22203)
Row 129892007 (NC_000023.11:48458658:CCTCCT: 281/22203)...

- Oct 16, 2022 (156)
66 TopMed

Submission ignored due to conflicting rows:
Row 685757767 (NC_000023.11:48458658:CCT: 979/264690)
Row 685757768 (NC_000023.11:48458658:CCTCCT: 752/264690)
Row 685757769 (NC_000023.11:48458658:CCTCCTCCT: 120/264690)...

- Apr 27, 2021 (155)
67 TopMed

Submission ignored due to conflicting rows:
Row 685757767 (NC_000023.11:48458658:CCT: 979/264690)
Row 685757768 (NC_000023.11:48458658:CCTCCT: 752/264690)
Row 685757769 (NC_000023.11:48458658:CCTCCTCCT: 120/264690)...

- Apr 27, 2021 (155)
68 TopMed

Submission ignored due to conflicting rows:
Row 685757767 (NC_000023.11:48458658:CCT: 979/264690)
Row 685757768 (NC_000023.11:48458658:CCTCCT: 752/264690)
Row 685757769 (NC_000023.11:48458658:CCTCCTCCT: 120/264690)...

- Apr 27, 2021 (155)
69 TopMed

Submission ignored due to conflicting rows:
Row 685757767 (NC_000023.11:48458658:CCT: 979/264690)
Row 685757768 (NC_000023.11:48458658:CCTCCT: 752/264690)
Row 685757769 (NC_000023.11:48458658:CCTCCTCCT: 120/264690)...

- Apr 27, 2021 (155)
70 ALFA NC_000023.11 - 48458659 Apr 27, 2021 (155)
Help

History tab displays RefSNPs (Associated ID) from previous builds (Build) that now support the current RefSNP, and the dates, when the history was updated for each Associated ID (History Updated).

Added to this RefSNP Cluster:
Submission IDs Observation SPDI Canonical SPDI Source RSIDs
ss5122151413 NC_000023.11:48458658:CCTCCTCCTCCT…

NC_000023.11:48458658:CCTCCTCCTCCTCCTCCTCCT:

NC_000023.11:48458658:CCTCCTCCTCCT…

NC_000023.11:48458658:CCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTC:CCTCCTCCTCCTCCTC

(self)
10862324160 NC_000023.11:48458658:CCTCCTCCTCCT…

NC_000023.11:48458658:CCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTC:CCTCCTCCTCCTCCTC

NC_000023.11:48458658:CCTCCTCCTCCT…

NC_000023.11:48458658:CCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTC:CCTCCTCCTCCTCCTC

(self)
ss4371149869 NC_000023.11:48458658:CCTCCTCCTCCT…

NC_000023.11:48458658:CCTCCTCCTCCTCCTCCT:

NC_000023.11:48458658:CCTCCTCCTCCT…

NC_000023.11:48458658:CCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTC:CCTCCTCCTCCTCCTCCTC

(self)
10862324160 NC_000023.11:48458658:CCTCCTCCTCCT…

NC_000023.11:48458658:CCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTC:CCTCCTCCTCCTCCTCCTC

NC_000023.11:48458658:CCTCCTCCTCCT…

NC_000023.11:48458658:CCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTC:CCTCCTCCTCCTCCTCCTC

(self)
10862324160 NC_000023.11:48458658:CCTCCTCCTCCT…

NC_000023.11:48458658:CCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTC:CCTCCTCCTCCTCCTCCTCCTC

NC_000023.11:48458658:CCTCCTCCTCCT…

NC_000023.11:48458658:CCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTC:CCTCCTCCTCCTCCTCCTCCTC

(self)
ss4371149868 NC_000023.11:48458658:CCTCCTCCTCCT: NC_000023.11:48458658:CCTCCTCCTCCT…

NC_000023.11:48458658:CCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTC:CCTCCTCCTCCTCCTCCTCCTCCTC

(self)
10862324160 NC_000023.11:48458658:CCTCCTCCTCCT…

NC_000023.11:48458658:CCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTC:CCTCCTCCTCCTCCTCCTCCTCCTC

NC_000023.11:48458658:CCTCCTCCTCCT…

NC_000023.11:48458658:CCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTC:CCTCCTCCTCCTCCTCCTCCTCCTC

(self)
ss4371149867, ss5122151412, ss5504152909 NC_000023.11:48458658:CCTCCTCCT: NC_000023.11:48458658:CCTCCTCCTCCT…

NC_000023.11:48458658:CCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTC:CCTCCTCCTCCTCCTCCTCCTCCTCCTC

(self)
10862324160 NC_000023.11:48458658:CCTCCTCCTCCT…

NC_000023.11:48458658:CCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTC:CCTCCTCCTCCTCCTCCTCCTCCTCCTC

NC_000023.11:48458658:CCTCCTCCTCCT…

NC_000023.11:48458658:CCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTC:CCTCCTCCTCCTCCTCCTCCTCCTCCTC

(self)
ss5234375205 NC_000023.10:48317041:CCTCCTCCT: NC_000023.11:48458658:CCTCCTCCTCCT…

NC_000023.11:48458658:CCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTC:CCTCCTCCTCCTCCTCCTCCTCCTCCTCCTC

(self)
ss4371149866, ss5122151411, ss5312478839, ss5796054903 NC_000023.11:48458658:CCTCCT: NC_000023.11:48458658:CCTCCTCCTCCT…

NC_000023.11:48458658:CCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTC:CCTCCTCCTCCTCCTCCTCCTCCTCCTCCTC

(self)
10862324160 NC_000023.11:48458658:CCTCCTCCTCCT…

NC_000023.11:48458658:CCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTC:CCTCCTCCTCCTCCTCCTCCTCCTCCTCCTC

NC_000023.11:48458658:CCTCCTCCTCCT…

NC_000023.11:48458658:CCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTC:CCTCCTCCTCCTCCTCCTCCTCCTCCTCCTC

(self)
ss3019936762, ss5234375204, ss5936479218 NC_000023.10:48317041:CCTCCT: NC_000023.11:48458658:CCTCCTCCTCCT…

NC_000023.11:48458658:CCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTC:CCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTC

(self)
ss4371149865, ss5122151410, ss5312478838, ss5796054904 NC_000023.11:48458658:CCT: NC_000023.11:48458658:CCTCCTCCTCCT…

NC_000023.11:48458658:CCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTC:CCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTC

(self)
10862324160 NC_000023.11:48458658:CCTCCTCCTCCT…

NC_000023.11:48458658:CCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTC:CCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTC

NC_000023.11:48458658:CCTCCTCCTCCT…

NC_000023.11:48458658:CCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTC:CCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTC

(self)
ss3019936762, ss5234375204, ss5936479218 NC_000023.10:48317041:CCTCCT:CCTCCT NC_000023.11:48458658:CCTCCTCCTCCT…

NC_000023.11:48458658:CCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTC:CCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTC

(self)
ss5234375205 NC_000023.10:48317041:CCTCCTCCT:CC…

NC_000023.10:48317041:CCTCCTCCT:CCTCCTCCT

NC_000023.11:48458658:CCTCCTCCTCCT…

NC_000023.11:48458658:CCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTC:CCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTC

(self)
ss3065262010, ss4371149858, ss5312478835, ss5504152906, ss5796054901 NC_000023.11:48458658::CCT NC_000023.11:48458658:CCTCCTCCTCCT…

NC_000023.11:48458658:CCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTC:CCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTC

(self)
10862324160 NC_000023.11:48458658:CCTCCTCCTCCT…

NC_000023.11:48458658:CCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTC:CCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTC

NC_000023.11:48458658:CCTCCTCCTCCT…

NC_000023.11:48458658:CCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTC:CCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTC

(self)
ss3651272373 NC_000023.11:48458670::CCT NC_000023.11:48458658:CCTCCTCCTCCT…

NC_000023.11:48458658:CCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTC:CCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTC

(self)
ss5234375206 NC_000023.10:48317041::CCT NC_000023.11:48458658:CCTCCTCCTCCT…

NC_000023.11:48458658:CCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTC:CCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTC

(self)
ss4371149859, ss5312478836, ss5504152907, ss5796054902 NC_000023.11:48458658::CCTCCT NC_000023.11:48458658:CCTCCTCCTCCT…

NC_000023.11:48458658:CCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTC:CCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTC

(self)
10862324160 NC_000023.11:48458658:CCTCCTCCTCCT…

NC_000023.11:48458658:CCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTC:CCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTC

NC_000023.11:48458658:CCTCCTCCTCCT…

NC_000023.11:48458658:CCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTC:CCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTC

(self)
ss4371149860, ss5312478837, ss5504152908 NC_000023.11:48458658::CCTCCTCCT NC_000023.11:48458658:CCTCCTCCTCCT…

NC_000023.11:48458658:CCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTC:CCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTC

(self)
10862324160 NC_000023.11:48458658:CCTCCTCCTCCT…

NC_000023.11:48458658:CCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTC:CCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTC

NC_000023.11:48458658:CCTCCTCCTCCT…

NC_000023.11:48458658:CCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTC:CCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTC

(self)
ss4371149861 NC_000023.11:48458658::CCTCCTCCTCCT NC_000023.11:48458658:CCTCCTCCTCCT…

NC_000023.11:48458658:CCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTC:CCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTC

(self)
10862324160 NC_000023.11:48458658:CCTCCTCCTCCT…

NC_000023.11:48458658:CCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTC:CCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTC

NC_000023.11:48458658:CCTCCTCCTCCT…

NC_000023.11:48458658:CCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTC:CCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTC

(self)
ss4371149862 NC_000023.11:48458658::CCTCCTCCTCC…

NC_000023.11:48458658::CCTCCTCCTCCTCCT

NC_000023.11:48458658:CCTCCTCCTCCT…

NC_000023.11:48458658:CCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTC:CCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTC

(self)
ss4371149863 NC_000023.11:48458658::CCTCCTCCTCC…

NC_000023.11:48458658::CCTCCTCCTCCTCCTCCT

NC_000023.11:48458658:CCTCCTCCTCCT…

NC_000023.11:48458658:CCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTC:CCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTC

(self)
ss5796054905 NC_000023.11:48458658::CCTCCTCCTCC…

NC_000023.11:48458658::CCTCCTCCTCCTCCTCCTCCT

NC_000023.11:48458658:CCTCCTCCTCCT…

NC_000023.11:48458658:CCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTC:CCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTC

Removed from this RefSNP Cluster:
Submission IDs Observation SPDI Canonical SPDI Destination RSIDs
ss3610376385 NC_000023.11:48458658:CCTCCTCCTCCT…

NC_000023.11:48458658:CCTCCTCCTCCTCCT:

NC_000023.11:48458658:CCTCCTCCTCCT…

NC_000023.11:48458658:CCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTC:CCTCCTCCTCCTCCTCCTCCTC

Help

Publications tab displays PubMed articles citing the variation as a listing of PMID, Title, Author, Year, Journal, ordered by Year, descending.

No publications for rs782262041

Help

The Flanks tab provides retrieving flanking sequences of a SNP on all molecules that have placements.

Genome context:
Select flank length:

Genomic regions, transcripts, and products
Top Help

NCBI Graphical Sequence Viewer display of the genomic region, transcripts and protein products for the reported RefSNP (rs).
Use the zoom option to view the nucleotides around the RefSNP and find other neighboring RefSNPs.
Visit Sequence Viewer for help with navigating inside the display and modifying the selection of displayed data tracks.

Software version is: 2.0.1.post820+afb47a3d