Name: rs11444346
Published: September 21, 2022
License: Open Access

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.

rs11444346

Current Build 156

Released September 21, 2022

Organism: Homo sapiens
Position: chr9:128624087-128624112 (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(A)₁₆ / del(A)₁₅ / del(A)₁₄ / d…
del(A)₁₆ / del(A)₁₅ / del(A)₁₄ / del(A)₁₃ / del(A)₁₂ / del(A)₁₁ / del(A)₁₀ / del(A)₉ / del(A)₈ / del(A)₇ / del(A)₆ / del(A)₅ / del(A)₄ / delAA / delA / dupA / dupAA / dupAAA / dup(A)₄ / dup(A)₅ / dup(A)₆
Variation Type: Indel Insertion and Deletion
Frequency: (A)₂₆=0.0531 (266/5008, 1000G)
del(A)₁₆=0.0000 (0/3724, ALFA)
del(A)₁₅=0.0000 (0/3724, ALFA) (+ 17 more)
del(A)₁₄=0.0000 (0/3724, ALFA)
del(A)₁₃=0.0000 (0/3724, ALFA)
del(A)₁₂=0.0000 (0/3724, ALFA)
del(A)₁₁=0.0000 (0/3724, ALFA)
del(A)₁₀=0.0000 (0/3724, ALFA)
del(A)₉=0.0000 (0/3724, ALFA)
del(A)₈=0.0000 (0/3724, ALFA)
del(A)₇=0.0000 (0/3724, ALFA)
del(A)₆=0.0000 (0/3724, ALFA)
del(A)₅=0.0000 (0/3724, ALFA)
del(A)₄=0.0000 (0/3724, ALFA)
delAA=0.0000 (0/3724, ALFA)
delA=0.0000 (0/3724, ALFA)
dupA=0.0000 (0/3724, ALFA)
dupAA=0.0000 (0/3724, ALFA)
dupAAA=0.0000 (0/3724, ALFA)
dup(A)₅=0.0000 (0/3724, ALFA)

Clinical Significance: Reported in ClinVar
Gene : Consequence: SPTAN1 : Intron Variant
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	HWEP
Total	Global	3724	AAAAAAAAAAAAAAAAAAAAAAAAAA=1.0000	AAAAAAAAAA=0.0000, AAAAAAAAAAA=0.0000, AAAAAAAAAAAA=0.0000, AAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.0000	1.0	N/A
European	Sub	2538	AAAAAAAAAAAAAAAAAAAAAAAAAA=1.0000	AAAAAAAAAA=0.0000, AAAAAAAAAAA=0.0000, AAAAAAAAAAAA=0.0000, AAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.0000	1.0	N/A
African	Sub	642	AAAAAAAAAAAAAAAAAAAAAAAAAA=1.000	AAAAAAAAAA=0.000, AAAAAAAAAAA=0.000, AAAAAAAAAAAA=0.000, AAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.000	1.0	N/A
African Others	Sub	26	AAAAAAAAAAAAAAAAAAAAAAAAAA=1.00	AAAAAAAAAA=0.00, AAAAAAAAAAA=0.00, AAAAAAAAAAAA=0.00, AAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.00	1.0	N/A
African American	Sub	616	AAAAAAAAAAAAAAAAAAAAAAAAAA=1.000	AAAAAAAAAA=0.000, AAAAAAAAAAA=0.000, AAAAAAAAAAAA=0.000, AAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.000	1.0	N/A
Asian	Sub	28	AAAAAAAAAAAAAAAAAAAAAAAAAA=1.00	AAAAAAAAAA=0.00, AAAAAAAAAAA=0.00, AAAAAAAAAAAA=0.00, AAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.00	1.0	N/A
East Asian	Sub	20	AAAAAAAAAAAAAAAAAAAAAAAAAA=1.00	AAAAAAAAAA=0.00, AAAAAAAAAAA=0.00, AAAAAAAAAAAA=0.00, AAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.00	1.0	N/A
Other Asian	Sub	8	AAAAAAAAAAAAAAAAAAAAAAAAAA=1.0	AAAAAAAAAA=0.0, AAAAAAAAAAA=0.0, AAAAAAAAAAAA=0.0, AAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.0	1.0	N/A
Latin American 1	Sub	42	AAAAAAAAAAAAAAAAAAAAAAAAAA=1.00	AAAAAAAAAA=0.00, AAAAAAAAAAA=0.00, AAAAAAAAAAAA=0.00, AAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.00	1.0	N/A
Latin American 2	Sub	292	AAAAAAAAAAAAAAAAAAAAAAAAAA=1.000	AAAAAAAAAA=0.000, AAAAAAAAAAA=0.000, AAAAAAAAAAAA=0.000, AAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.000	1.0	N/A
South Asian	Sub	36	AAAAAAAAAAAAAAAAAAAAAAAAAA=1.00	AAAAAAAAAA=0.00, AAAAAAAAAAA=0.00, AAAAAAAAAAAA=0.00, AAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.00	1.0	N/A
Other	Sub	146	AAAAAAAAAAAAAAAAAAAAAAAAAA=1.000	AAAAAAAAAA=0.000, AAAAAAAAAAA=0.000, AAAAAAAAAAAA=0.000, AAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.000	1.0	N/A

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").

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Study	Population	Group	Sample Size	Ref Allele	Alt Allele
1000Genomes	Global	Study-wide	5008	(A)₂₆=0.0531	del(A)₁₁=0.9469
1000Genomes	African	Sub	1322	(A)₂₆=0.0212	del(A)₁₁=0.9788
1000Genomes	East Asian	Sub	1008	(A)₂₆=0.0397	del(A)₁₁=0.9603
1000Genomes	Europe	Sub	1006	(A)₂₆=0.0726	del(A)₁₁=0.9274
1000Genomes	South Asian	Sub	978	(A)₂₆=0.094	del(A)₁₁=0.906
1000Genomes	American	Sub	694	(A)₂₆=0.048	del(A)₁₁=0.952
Allele Frequency Aggregator	Total	Global	3724	(A)₂₆=1.0000	del(A)₁₆=0.0000, del(A)₁₅=0.0000, del(A)₁₄=0.0000, del(A)₁₃=0.0000, del(A)₁₂=0.0000, del(A)₁₁=0.0000, del(A)₁₀=0.0000, del(A)₉=0.0000, del(A)₈=0.0000, del(A)₇=0.0000, del(A)₆=0.0000, del(A)₅=0.0000, del(A)₄=0.0000, delAA=0.0000, delA=0.0000, dupA=0.0000, dupAA=0.0000, dupAAA=0.0000, dup(A)₅=0.0000
Allele Frequency Aggregator	European	Sub	2538	(A)₂₆=1.0000	del(A)₁₆=0.0000, del(A)₁₅=0.0000, del(A)₁₄=0.0000, del(A)₁₃=0.0000, del(A)₁₂=0.0000, del(A)₁₁=0.0000, del(A)₁₀=0.0000, del(A)₉=0.0000, del(A)₈=0.0000, del(A)₇=0.0000, del(A)₆=0.0000, del(A)₅=0.0000, del(A)₄=0.0000, delAA=0.0000, delA=0.0000, dupA=0.0000, dupAA=0.0000, dupAAA=0.0000, dup(A)₅=0.0000
Allele Frequency Aggregator	African	Sub	642	(A)₂₆=1.000	del(A)₁₆=0.000, del(A)₁₅=0.000, del(A)₁₄=0.000, del(A)₁₃=0.000, del(A)₁₂=0.000, del(A)₁₁=0.000, del(A)₁₀=0.000, del(A)₉=0.000, del(A)₈=0.000, del(A)₇=0.000, del(A)₆=0.000, del(A)₅=0.000, del(A)₄=0.000, delAA=0.000, delA=0.000, dupA=0.000, dupAA=0.000, dupAAA=0.000, dup(A)₅=0.000
Allele Frequency Aggregator	Latin American 2	Sub	292	(A)₂₆=1.000	del(A)₁₆=0.000, del(A)₁₅=0.000, del(A)₁₄=0.000, del(A)₁₃=0.000, del(A)₁₂=0.000, del(A)₁₁=0.000, del(A)₁₀=0.000, del(A)₉=0.000, del(A)₈=0.000, del(A)₇=0.000, del(A)₆=0.000, del(A)₅=0.000, del(A)₄=0.000, delAA=0.000, delA=0.000, dupA=0.000, dupAA=0.000, dupAAA=0.000, dup(A)₅=0.000
Allele Frequency Aggregator	Other	Sub	146	(A)₂₆=1.000	del(A)₁₆=0.000, del(A)₁₅=0.000, del(A)₁₄=0.000, del(A)₁₃=0.000, del(A)₁₂=0.000, del(A)₁₁=0.000, del(A)₁₀=0.000, del(A)₉=0.000, del(A)₈=0.000, del(A)₇=0.000, del(A)₆=0.000, del(A)₅=0.000, del(A)₄=0.000, delAA=0.000, delA=0.000, dupA=0.000, dupAA=0.000, dupAAA=0.000, dup(A)₅=0.000
Allele Frequency Aggregator	Latin American 1	Sub	42	(A)₂₆=1.00	del(A)₁₆=0.00, del(A)₁₅=0.00, del(A)₁₄=0.00, del(A)₁₃=0.00, del(A)₁₂=0.00, del(A)₁₁=0.00, del(A)₁₀=0.00, del(A)₉=0.00, del(A)₈=0.00, del(A)₇=0.00, del(A)₆=0.00, del(A)₅=0.00, del(A)₄=0.00, delAA=0.00, delA=0.00, dupA=0.00, dupAA=0.00, dupAAA=0.00, dup(A)₅=0.00
Allele Frequency Aggregator	South Asian	Sub	36	(A)₂₆=1.00	del(A)₁₆=0.00, del(A)₁₅=0.00, del(A)₁₄=0.00, del(A)₁₃=0.00, del(A)₁₂=0.00, del(A)₁₁=0.00, del(A)₁₀=0.00, del(A)₉=0.00, del(A)₈=0.00, del(A)₇=0.00, del(A)₆=0.00, del(A)₅=0.00, del(A)₄=0.00, delAA=0.00, delA=0.00, dupA=0.00, dupAA=0.00, dupAAA=0.00, dup(A)₅=0.00
Allele Frequency Aggregator	Asian	Sub	28	(A)₂₆=1.00	del(A)₁₆=0.00, del(A)₁₅=0.00, del(A)₁₄=0.00, del(A)₁₃=0.00, del(A)₁₂=0.00, del(A)₁₁=0.00, del(A)₁₀=0.00, del(A)₉=0.00, del(A)₈=0.00, del(A)₇=0.00, del(A)₆=0.00, del(A)₅=0.00, del(A)₄=0.00, delAA=0.00, delA=0.00, dupA=0.00, dupAA=0.00, dupAAA=0.00, dup(A)₅=0.00

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 9	NC_000009.12:g.128624097_128624112del
GRCh38.p14 chr 9	NC_000009.12:g.128624098_128624112del
GRCh38.p14 chr 9	NC_000009.12:g.128624099_128624112del
GRCh38.p14 chr 9	NC_000009.12:g.128624100_128624112del
GRCh38.p14 chr 9	NC_000009.12:g.128624101_128624112del
GRCh38.p14 chr 9	NC_000009.12:g.128624102_128624112del
GRCh38.p14 chr 9	NC_000009.12:g.128624103_128624112del
GRCh38.p14 chr 9	NC_000009.12:g.128624104_128624112del
GRCh38.p14 chr 9	NC_000009.12:g.128624105_128624112del
GRCh38.p14 chr 9	NC_000009.12:g.128624106_128624112del
GRCh38.p14 chr 9	NC_000009.12:g.128624107_128624112del
GRCh38.p14 chr 9	NC_000009.12:g.128624108_128624112del
GRCh38.p14 chr 9	NC_000009.12:g.128624109_128624112del
GRCh38.p14 chr 9	NC_000009.12:g.128624111_128624112del
GRCh38.p14 chr 9	NC_000009.12:g.128624112del
GRCh38.p14 chr 9	NC_000009.12:g.128624112dup
GRCh38.p14 chr 9	NC_000009.12:g.128624111_128624112dup
GRCh38.p14 chr 9	NC_000009.12:g.128624110_128624112dup
GRCh38.p14 chr 9	NC_000009.12:g.128624109_128624112dup
GRCh38.p14 chr 9	NC_000009.12:g.128624108_128624112dup
GRCh38.p14 chr 9	NC_000009.12:g.128624107_128624112dup
GRCh37.p13 chr 9	NC_000009.11:g.131386376_131386391del
GRCh37.p13 chr 9	NC_000009.11:g.131386377_131386391del
GRCh37.p13 chr 9	NC_000009.11:g.131386378_131386391del
GRCh37.p13 chr 9	NC_000009.11:g.131386379_131386391del
GRCh37.p13 chr 9	NC_000009.11:g.131386380_131386391del
GRCh37.p13 chr 9	NC_000009.11:g.131386381_131386391del
GRCh37.p13 chr 9	NC_000009.11:g.131386382_131386391del
GRCh37.p13 chr 9	NC_000009.11:g.131386383_131386391del
GRCh37.p13 chr 9	NC_000009.11:g.131386384_131386391del
GRCh37.p13 chr 9	NC_000009.11:g.131386385_131386391del
GRCh37.p13 chr 9	NC_000009.11:g.131386386_131386391del
GRCh37.p13 chr 9	NC_000009.11:g.131386387_131386391del
GRCh37.p13 chr 9	NC_000009.11:g.131386388_131386391del
GRCh37.p13 chr 9	NC_000009.11:g.131386390_131386391del
GRCh37.p13 chr 9	NC_000009.11:g.131386391del
GRCh37.p13 chr 9	NC_000009.11:g.131386391dup
GRCh37.p13 chr 9	NC_000009.11:g.131386390_131386391dup
GRCh37.p13 chr 9	NC_000009.11:g.131386389_131386391dup
GRCh37.p13 chr 9	NC_000009.11:g.131386388_131386391dup
GRCh37.p13 chr 9	NC_000009.11:g.131386387_131386391dup
GRCh37.p13 chr 9	NC_000009.11:g.131386386_131386391dup
SPTAN1 RefSeqGene	NG_027748.1:g.76540_76555del
SPTAN1 RefSeqGene	NG_027748.1:g.76541_76555del
SPTAN1 RefSeqGene	NG_027748.1:g.76542_76555del
SPTAN1 RefSeqGene	NG_027748.1:g.76543_76555del
SPTAN1 RefSeqGene	NG_027748.1:g.76544_76555del
SPTAN1 RefSeqGene	NG_027748.1:g.76545_76555del
SPTAN1 RefSeqGene	NG_027748.1:g.76546_76555del
SPTAN1 RefSeqGene	NG_027748.1:g.76547_76555del
SPTAN1 RefSeqGene	NG_027748.1:g.76548_76555del
SPTAN1 RefSeqGene	NG_027748.1:g.76549_76555del
SPTAN1 RefSeqGene	NG_027748.1:g.76550_76555del
SPTAN1 RefSeqGene	NG_027748.1:g.76551_76555del
SPTAN1 RefSeqGene	NG_027748.1:g.76552_76555del
SPTAN1 RefSeqGene	NG_027748.1:g.76554_76555del
SPTAN1 RefSeqGene	NG_027748.1:g.76555del
SPTAN1 RefSeqGene	NG_027748.1:g.76555dup
SPTAN1 RefSeqGene	NG_027748.1:g.76554_76555dup
SPTAN1 RefSeqGene	NG_027748.1:g.76553_76555dup
SPTAN1 RefSeqGene	NG_027748.1:g.76552_76555dup
SPTAN1 RefSeqGene	NG_027748.1:g.76551_76555dup
SPTAN1 RefSeqGene	NG_027748.1:g.76550_76555dup

Gene: SPTAN1, spectrin alpha, non-erythrocytic 1 (plus strand)

Molecule type	Change	Amino acid[Codon]	SO Term
SPTAN1 transcript variant 1	NM_001130438.3:c.5833-231… NM_001130438.3:c.5833-231_5833-216del	N/A	Intron Variant
SPTAN1 transcript variant 3	NM_001195532.2:c.5758-231… NM_001195532.2:c.5758-231_5758-216del	N/A	Intron Variant
SPTAN1 transcript variant 4	NM_001363759.2:c.5833-231… NM_001363759.2:c.5833-231_5833-216del	N/A	Intron Variant
SPTAN1 transcript variant 5	NM_001363765.2:c.5773-231… NM_001363765.2:c.5773-231_5773-216del	N/A	Intron Variant
SPTAN1 transcript variant 6	NM_001375310.1:c.5833-231… NM_001375310.1:c.5833-231_5833-216del	N/A	Intron Variant
SPTAN1 transcript variant 7	NM_001375311.2:c.5833-231… NM_001375311.2:c.5833-231_5833-216del	N/A	Intron Variant
SPTAN1 transcript variant 8	NM_001375312.2:c.5869-231… NM_001375312.2:c.5869-231_5869-216del	N/A	Intron Variant
SPTAN1 transcript variant 11	NM_001375313.1:c.5833-231… NM_001375313.1:c.5833-231_5833-216del	N/A	Intron Variant
SPTAN1 transcript variant 10	NM_001375314.2:c.5773-231… NM_001375314.2:c.5773-231_5773-216del	N/A	Intron Variant
SPTAN1 transcript variant 9	NM_001375318.1:c.5869-231… NM_001375318.1:c.5869-231_5869-216del	N/A	Intron Variant
SPTAN1 transcript variant 2	NM_003127.4:c.5818-231_58… NM_003127.4:c.5818-231_5818-216del	N/A	Intron Variant
SPTAN1 transcript variant X10	XM_006717251.3:c.5773-231… XM_006717251.3:c.5773-231_5773-216del	N/A	Intron Variant
SPTAN1 transcript variant X15	XM_017015060.2:c.5809-231… XM_017015060.2:c.5809-231_5809-216del	N/A	Intron Variant
SPTAN1 transcript variant X1	XM_047423783.1:c.5869-231… XM_047423783.1:c.5869-231_5869-216del	N/A	Intron Variant
SPTAN1 transcript variant X2	XM_047423784.1:c.5854-231… XM_047423784.1:c.5854-231_5854-216del	N/A	Intron Variant
SPTAN1 transcript variant X3	XM_047423785.1:c.5818-231… XM_047423785.1:c.5818-231_5818-216del	N/A	Intron Variant
SPTAN1 transcript variant X4	XM_047423786.1:c.5809-231… XM_047423786.1:c.5809-231_5809-216del	N/A	Intron Variant
SPTAN1 transcript variant X5	XM_047423787.1:c.5869-231… XM_047423787.1:c.5869-231_5869-216del	N/A	Intron Variant
SPTAN1 transcript variant X6	XM_047423788.1:c.5794-231… XM_047423788.1:c.5794-231_5794-216del	N/A	Intron Variant
SPTAN1 transcript variant X7	XM_047423789.1:c.5854-231… XM_047423789.1:c.5854-231_5854-216del	N/A	Intron Variant
SPTAN1 transcript variant X8	XM_047423790.1:c.5869-231… XM_047423790.1:c.5869-231_5869-216del	N/A	Intron Variant
SPTAN1 transcript variant X9	XM_047423791.1:c.5854-231… XM_047423791.1:c.5854-231_5854-216del	N/A	Intron Variant
SPTAN1 transcript variant X11	XM_047423793.1:c.5758-231… XM_047423793.1:c.5758-231_5758-216del	N/A	Intron Variant
SPTAN1 transcript variant X12	XM_047423794.1:c.5809-231… XM_047423794.1:c.5809-231_5809-216del	N/A	Intron Variant
SPTAN1 transcript variant X13	XM_047423795.1:c.5818-231… XM_047423795.1:c.5818-231_5818-216del	N/A	Intron Variant
SPTAN1 transcript variant X14	XM_047423796.1:c.5794-231… XM_047423796.1:c.5794-231_5794-216del	N/A	Intron Variant
SPTAN1 transcript variant X16	XM_047423797.1:c.5794-231… XM_047423797.1:c.5794-231_5794-216del	N/A	Intron Variant
SPTAN1 transcript variant X17	XM_047423798.1:c.5773-231… XM_047423798.1:c.5773-231_5773-216del	N/A	Intron Variant
SPTAN1 transcript variant X18	XM_047423799.1:c.5758-231… XM_047423799.1:c.5758-231_5758-216del	N/A	Intron Variant

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.

Allele: del(A)₁₂ (allele ID: 1213276 )

ClinVar Accession	Disease Names	Clinical Significance
RCV001594688.3	not provided	Benign

Allele: del(A)₁₁ (allele ID: 1223427 )

ClinVar Accession	Disease Names	Clinical Significance
RCV001621362.3	not provided	Benign

Allele: delA (allele ID: 1287189 )

ClinVar Accession	Disease Names	Clinical Significance
RCV001725104.1	not provided	Benign

Allele: dupA (allele ID: 1261113 )

ClinVar Accession	Disease Names	Clinical Significance
RCV001679787.1	not provided	Benign

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	(A)₂₆=	del(A)₁₆	del(A)₁₅	del(A)₁₄	del(A)₁₃	del(A)₁₂	del(A)₁₁	del(A)₁₀	del(A)₉	del(A)₈	del(A)₇	del(A)₆	del(A)₅	del(A)₄	delAA	delA	dupA	dupAA	dupAAA	dup(A)₄	dup(A)₅	dup(A)₆
GRCh38.p14 chr 9	NC_000009.12:g.128624087_128624112=	NC_000009.12:g.128624097_128624112del	NC_000009.12:g.128624098_128624112del	NC_000009.12:g.128624099_128624112del	NC_000009.12:g.128624100_128624112del	NC_000009.12:g.128624101_128624112del	NC_000009.12:g.128624102_128624112del	NC_000009.12:g.128624103_128624112del	NC_000009.12:g.128624104_128624112del	NC_000009.12:g.128624105_128624112del	NC_000009.12:g.128624106_128624112del	NC_000009.12:g.128624107_128624112del	NC_000009.12:g.128624108_128624112del	NC_000009.12:g.128624109_128624112del	NC_000009.12:g.128624111_128624112del	NC_000009.12:g.128624112del	NC_000009.12:g.128624112dup	NC_000009.12:g.128624111_128624112dup	NC_000009.12:g.128624110_128624112dup	NC_000009.12:g.128624109_128624112dup	NC_000009.12:g.128624108_128624112dup	NC_000009.12:g.128624107_128624112dup
GRCh37.p13 chr 9	NC_000009.11:g.131386366_131386391=	NC_000009.11:g.131386376_131386391del	NC_000009.11:g.131386377_131386391del	NC_000009.11:g.131386378_131386391del	NC_000009.11:g.131386379_131386391del	NC_000009.11:g.131386380_131386391del	NC_000009.11:g.131386381_131386391del	NC_000009.11:g.131386382_131386391del	NC_000009.11:g.131386383_131386391del	NC_000009.11:g.131386384_131386391del	NC_000009.11:g.131386385_131386391del	NC_000009.11:g.131386386_131386391del	NC_000009.11:g.131386387_131386391del	NC_000009.11:g.131386388_131386391del	NC_000009.11:g.131386390_131386391del	NC_000009.11:g.131386391del	NC_000009.11:g.131386391dup	NC_000009.11:g.131386390_131386391dup	NC_000009.11:g.131386389_131386391dup	NC_000009.11:g.131386388_131386391dup	NC_000009.11:g.131386387_131386391dup	NC_000009.11:g.131386386_131386391dup
SPTAN1 RefSeqGene	NG_027748.1:g.76530_76555=	NG_027748.1:g.76540_76555del	NG_027748.1:g.76541_76555del	NG_027748.1:g.76542_76555del	NG_027748.1:g.76543_76555del	NG_027748.1:g.76544_76555del	NG_027748.1:g.76545_76555del	NG_027748.1:g.76546_76555del	NG_027748.1:g.76547_76555del	NG_027748.1:g.76548_76555del	NG_027748.1:g.76549_76555del	NG_027748.1:g.76550_76555del	NG_027748.1:g.76551_76555del	NG_027748.1:g.76552_76555del	NG_027748.1:g.76554_76555del	NG_027748.1:g.76555del	NG_027748.1:g.76555dup	NG_027748.1:g.76554_76555dup	NG_027748.1:g.76553_76555dup	NG_027748.1:g.76552_76555dup	NG_027748.1:g.76551_76555dup	NG_027748.1:g.76550_76555dup
SPTAN1 transcript variant 1	NM_001130438.2:c.5833-241=	NM_001130438.2:c.5833-231_5833-216del	NM_001130438.2:c.5833-230_5833-216del	NM_001130438.2:c.5833-229_5833-216del	NM_001130438.2:c.5833-228_5833-216del	NM_001130438.2:c.5833-227_5833-216del	NM_001130438.2:c.5833-226_5833-216del	NM_001130438.2:c.5833-225_5833-216del	NM_001130438.2:c.5833-224_5833-216del	NM_001130438.2:c.5833-223_5833-216del	NM_001130438.2:c.5833-222_5833-216del	NM_001130438.2:c.5833-221_5833-216del	NM_001130438.2:c.5833-220_5833-216del	NM_001130438.2:c.5833-219_5833-216del	NM_001130438.2:c.5833-217_5833-216del	NM_001130438.2:c.5833-216del	NM_001130438.2:c.5833-216dup	NM_001130438.2:c.5833-217_5833-216dup	NM_001130438.2:c.5833-218_5833-216dup	NM_001130438.2:c.5833-219_5833-216dup	NM_001130438.2:c.5833-220_5833-216dup	NM_001130438.2:c.5833-221_5833-216dup
SPTAN1 transcript variant 1	NM_001130438.3:c.5833-241=	NM_001130438.3:c.5833-231_5833-216del	NM_001130438.3:c.5833-230_5833-216del	NM_001130438.3:c.5833-229_5833-216del	NM_001130438.3:c.5833-228_5833-216del	NM_001130438.3:c.5833-227_5833-216del	NM_001130438.3:c.5833-226_5833-216del	NM_001130438.3:c.5833-225_5833-216del	NM_001130438.3:c.5833-224_5833-216del	NM_001130438.3:c.5833-223_5833-216del	NM_001130438.3:c.5833-222_5833-216del	NM_001130438.3:c.5833-221_5833-216del	NM_001130438.3:c.5833-220_5833-216del	NM_001130438.3:c.5833-219_5833-216del	NM_001130438.3:c.5833-217_5833-216del	NM_001130438.3:c.5833-216del	NM_001130438.3:c.5833-216dup	NM_001130438.3:c.5833-217_5833-216dup	NM_001130438.3:c.5833-218_5833-216dup	NM_001130438.3:c.5833-219_5833-216dup	NM_001130438.3:c.5833-220_5833-216dup	NM_001130438.3:c.5833-221_5833-216dup
SPTAN1 transcript variant 3	NM_001195532.1:c.5758-241=	NM_001195532.1:c.5758-231_5758-216del	NM_001195532.1:c.5758-230_5758-216del	NM_001195532.1:c.5758-229_5758-216del	NM_001195532.1:c.5758-228_5758-216del	NM_001195532.1:c.5758-227_5758-216del	NM_001195532.1:c.5758-226_5758-216del	NM_001195532.1:c.5758-225_5758-216del	NM_001195532.1:c.5758-224_5758-216del	NM_001195532.1:c.5758-223_5758-216del	NM_001195532.1:c.5758-222_5758-216del	NM_001195532.1:c.5758-221_5758-216del	NM_001195532.1:c.5758-220_5758-216del	NM_001195532.1:c.5758-219_5758-216del	NM_001195532.1:c.5758-217_5758-216del	NM_001195532.1:c.5758-216del	NM_001195532.1:c.5758-216dup	NM_001195532.1:c.5758-217_5758-216dup	NM_001195532.1:c.5758-218_5758-216dup	NM_001195532.1:c.5758-219_5758-216dup	NM_001195532.1:c.5758-220_5758-216dup	NM_001195532.1:c.5758-221_5758-216dup
SPTAN1 transcript variant 3	NM_001195532.2:c.5758-241=	NM_001195532.2:c.5758-231_5758-216del	NM_001195532.2:c.5758-230_5758-216del	NM_001195532.2:c.5758-229_5758-216del	NM_001195532.2:c.5758-228_5758-216del	NM_001195532.2:c.5758-227_5758-216del	NM_001195532.2:c.5758-226_5758-216del	NM_001195532.2:c.5758-225_5758-216del	NM_001195532.2:c.5758-224_5758-216del	NM_001195532.2:c.5758-223_5758-216del	NM_001195532.2:c.5758-222_5758-216del	NM_001195532.2:c.5758-221_5758-216del	NM_001195532.2:c.5758-220_5758-216del	NM_001195532.2:c.5758-219_5758-216del	NM_001195532.2:c.5758-217_5758-216del	NM_001195532.2:c.5758-216del	NM_001195532.2:c.5758-216dup	NM_001195532.2:c.5758-217_5758-216dup	NM_001195532.2:c.5758-218_5758-216dup	NM_001195532.2:c.5758-219_5758-216dup	NM_001195532.2:c.5758-220_5758-216dup	NM_001195532.2:c.5758-221_5758-216dup
SPTAN1 transcript variant 4	NM_001363759.2:c.5833-241=	NM_001363759.2:c.5833-231_5833-216del	NM_001363759.2:c.5833-230_5833-216del	NM_001363759.2:c.5833-229_5833-216del	NM_001363759.2:c.5833-228_5833-216del	NM_001363759.2:c.5833-227_5833-216del	NM_001363759.2:c.5833-226_5833-216del	NM_001363759.2:c.5833-225_5833-216del	NM_001363759.2:c.5833-224_5833-216del	NM_001363759.2:c.5833-223_5833-216del	NM_001363759.2:c.5833-222_5833-216del	NM_001363759.2:c.5833-221_5833-216del	NM_001363759.2:c.5833-220_5833-216del	NM_001363759.2:c.5833-219_5833-216del	NM_001363759.2:c.5833-217_5833-216del	NM_001363759.2:c.5833-216del	NM_001363759.2:c.5833-216dup	NM_001363759.2:c.5833-217_5833-216dup	NM_001363759.2:c.5833-218_5833-216dup	NM_001363759.2:c.5833-219_5833-216dup	NM_001363759.2:c.5833-220_5833-216dup	NM_001363759.2:c.5833-221_5833-216dup
SPTAN1 transcript variant 5	NM_001363765.2:c.5773-241=	NM_001363765.2:c.5773-231_5773-216del	NM_001363765.2:c.5773-230_5773-216del	NM_001363765.2:c.5773-229_5773-216del	NM_001363765.2:c.5773-228_5773-216del	NM_001363765.2:c.5773-227_5773-216del	NM_001363765.2:c.5773-226_5773-216del	NM_001363765.2:c.5773-225_5773-216del	NM_001363765.2:c.5773-224_5773-216del	NM_001363765.2:c.5773-223_5773-216del	NM_001363765.2:c.5773-222_5773-216del	NM_001363765.2:c.5773-221_5773-216del	NM_001363765.2:c.5773-220_5773-216del	NM_001363765.2:c.5773-219_5773-216del	NM_001363765.2:c.5773-217_5773-216del	NM_001363765.2:c.5773-216del	NM_001363765.2:c.5773-216dup	NM_001363765.2:c.5773-217_5773-216dup	NM_001363765.2:c.5773-218_5773-216dup	NM_001363765.2:c.5773-219_5773-216dup	NM_001363765.2:c.5773-220_5773-216dup	NM_001363765.2:c.5773-221_5773-216dup
SPTAN1 transcript variant 6	NM_001375310.1:c.5833-241=	NM_001375310.1:c.5833-231_5833-216del	NM_001375310.1:c.5833-230_5833-216del	NM_001375310.1:c.5833-229_5833-216del	NM_001375310.1:c.5833-228_5833-216del	NM_001375310.1:c.5833-227_5833-216del	NM_001375310.1:c.5833-226_5833-216del	NM_001375310.1:c.5833-225_5833-216del	NM_001375310.1:c.5833-224_5833-216del	NM_001375310.1:c.5833-223_5833-216del	NM_001375310.1:c.5833-222_5833-216del	NM_001375310.1:c.5833-221_5833-216del	NM_001375310.1:c.5833-220_5833-216del	NM_001375310.1:c.5833-219_5833-216del	NM_001375310.1:c.5833-217_5833-216del	NM_001375310.1:c.5833-216del	NM_001375310.1:c.5833-216dup	NM_001375310.1:c.5833-217_5833-216dup	NM_001375310.1:c.5833-218_5833-216dup	NM_001375310.1:c.5833-219_5833-216dup	NM_001375310.1:c.5833-220_5833-216dup	NM_001375310.1:c.5833-221_5833-216dup
SPTAN1 transcript variant 7	NM_001375311.2:c.5833-241=	NM_001375311.2:c.5833-231_5833-216del	NM_001375311.2:c.5833-230_5833-216del	NM_001375311.2:c.5833-229_5833-216del	NM_001375311.2:c.5833-228_5833-216del	NM_001375311.2:c.5833-227_5833-216del	NM_001375311.2:c.5833-226_5833-216del	NM_001375311.2:c.5833-225_5833-216del	NM_001375311.2:c.5833-224_5833-216del	NM_001375311.2:c.5833-223_5833-216del	NM_001375311.2:c.5833-222_5833-216del	NM_001375311.2:c.5833-221_5833-216del	NM_001375311.2:c.5833-220_5833-216del	NM_001375311.2:c.5833-219_5833-216del	NM_001375311.2:c.5833-217_5833-216del	NM_001375311.2:c.5833-216del	NM_001375311.2:c.5833-216dup	NM_001375311.2:c.5833-217_5833-216dup	NM_001375311.2:c.5833-218_5833-216dup	NM_001375311.2:c.5833-219_5833-216dup	NM_001375311.2:c.5833-220_5833-216dup	NM_001375311.2:c.5833-221_5833-216dup
SPTAN1 transcript variant 8	NM_001375312.2:c.5869-241=	NM_001375312.2:c.5869-231_5869-216del	NM_001375312.2:c.5869-230_5869-216del	NM_001375312.2:c.5869-229_5869-216del	NM_001375312.2:c.5869-228_5869-216del	NM_001375312.2:c.5869-227_5869-216del	NM_001375312.2:c.5869-226_5869-216del	NM_001375312.2:c.5869-225_5869-216del	NM_001375312.2:c.5869-224_5869-216del	NM_001375312.2:c.5869-223_5869-216del	NM_001375312.2:c.5869-222_5869-216del	NM_001375312.2:c.5869-221_5869-216del	NM_001375312.2:c.5869-220_5869-216del	NM_001375312.2:c.5869-219_5869-216del	NM_001375312.2:c.5869-217_5869-216del	NM_001375312.2:c.5869-216del	NM_001375312.2:c.5869-216dup	NM_001375312.2:c.5869-217_5869-216dup	NM_001375312.2:c.5869-218_5869-216dup	NM_001375312.2:c.5869-219_5869-216dup	NM_001375312.2:c.5869-220_5869-216dup	NM_001375312.2:c.5869-221_5869-216dup
SPTAN1 transcript variant 11	NM_001375313.1:c.5833-241=	NM_001375313.1:c.5833-231_5833-216del	NM_001375313.1:c.5833-230_5833-216del	NM_001375313.1:c.5833-229_5833-216del	NM_001375313.1:c.5833-228_5833-216del	NM_001375313.1:c.5833-227_5833-216del	NM_001375313.1:c.5833-226_5833-216del	NM_001375313.1:c.5833-225_5833-216del	NM_001375313.1:c.5833-224_5833-216del	NM_001375313.1:c.5833-223_5833-216del	NM_001375313.1:c.5833-222_5833-216del	NM_001375313.1:c.5833-221_5833-216del	NM_001375313.1:c.5833-220_5833-216del	NM_001375313.1:c.5833-219_5833-216del	NM_001375313.1:c.5833-217_5833-216del	NM_001375313.1:c.5833-216del	NM_001375313.1:c.5833-216dup	NM_001375313.1:c.5833-217_5833-216dup	NM_001375313.1:c.5833-218_5833-216dup	NM_001375313.1:c.5833-219_5833-216dup	NM_001375313.1:c.5833-220_5833-216dup	NM_001375313.1:c.5833-221_5833-216dup
SPTAN1 transcript variant 10	NM_001375314.2:c.5773-241=	NM_001375314.2:c.5773-231_5773-216del	NM_001375314.2:c.5773-230_5773-216del	NM_001375314.2:c.5773-229_5773-216del	NM_001375314.2:c.5773-228_5773-216del	NM_001375314.2:c.5773-227_5773-216del	NM_001375314.2:c.5773-226_5773-216del	NM_001375314.2:c.5773-225_5773-216del	NM_001375314.2:c.5773-224_5773-216del	NM_001375314.2:c.5773-223_5773-216del	NM_001375314.2:c.5773-222_5773-216del	NM_001375314.2:c.5773-221_5773-216del	NM_001375314.2:c.5773-220_5773-216del	NM_001375314.2:c.5773-219_5773-216del	NM_001375314.2:c.5773-217_5773-216del	NM_001375314.2:c.5773-216del	NM_001375314.2:c.5773-216dup	NM_001375314.2:c.5773-217_5773-216dup	NM_001375314.2:c.5773-218_5773-216dup	NM_001375314.2:c.5773-219_5773-216dup	NM_001375314.2:c.5773-220_5773-216dup	NM_001375314.2:c.5773-221_5773-216dup
SPTAN1 transcript variant 9	NM_001375318.1:c.5869-241=	NM_001375318.1:c.5869-231_5869-216del	NM_001375318.1:c.5869-230_5869-216del	NM_001375318.1:c.5869-229_5869-216del	NM_001375318.1:c.5869-228_5869-216del	NM_001375318.1:c.5869-227_5869-216del	NM_001375318.1:c.5869-226_5869-216del	NM_001375318.1:c.5869-225_5869-216del	NM_001375318.1:c.5869-224_5869-216del	NM_001375318.1:c.5869-223_5869-216del	NM_001375318.1:c.5869-222_5869-216del	NM_001375318.1:c.5869-221_5869-216del	NM_001375318.1:c.5869-220_5869-216del	NM_001375318.1:c.5869-219_5869-216del	NM_001375318.1:c.5869-217_5869-216del	NM_001375318.1:c.5869-216del	NM_001375318.1:c.5869-216dup	NM_001375318.1:c.5869-217_5869-216dup	NM_001375318.1:c.5869-218_5869-216dup	NM_001375318.1:c.5869-219_5869-216dup	NM_001375318.1:c.5869-220_5869-216dup	NM_001375318.1:c.5869-221_5869-216dup
SPTAN1 transcript variant 2	NM_003127.3:c.5818-241=	NM_003127.3:c.5818-231_5818-216del	NM_003127.3:c.5818-230_5818-216del	NM_003127.3:c.5818-229_5818-216del	NM_003127.3:c.5818-228_5818-216del	NM_003127.3:c.5818-227_5818-216del	NM_003127.3:c.5818-226_5818-216del	NM_003127.3:c.5818-225_5818-216del	NM_003127.3:c.5818-224_5818-216del	NM_003127.3:c.5818-223_5818-216del	NM_003127.3:c.5818-222_5818-216del	NM_003127.3:c.5818-221_5818-216del	NM_003127.3:c.5818-220_5818-216del	NM_003127.3:c.5818-219_5818-216del	NM_003127.3:c.5818-217_5818-216del	NM_003127.3:c.5818-216del	NM_003127.3:c.5818-216dup	NM_003127.3:c.5818-217_5818-216dup	NM_003127.3:c.5818-218_5818-216dup	NM_003127.3:c.5818-219_5818-216dup	NM_003127.3:c.5818-220_5818-216dup	NM_003127.3:c.5818-221_5818-216dup
SPTAN1 transcript variant 2	NM_003127.4:c.5818-241=	NM_003127.4:c.5818-231_5818-216del	NM_003127.4:c.5818-230_5818-216del	NM_003127.4:c.5818-229_5818-216del	NM_003127.4:c.5818-228_5818-216del	NM_003127.4:c.5818-227_5818-216del	NM_003127.4:c.5818-226_5818-216del	NM_003127.4:c.5818-225_5818-216del	NM_003127.4:c.5818-224_5818-216del	NM_003127.4:c.5818-223_5818-216del	NM_003127.4:c.5818-222_5818-216del	NM_003127.4:c.5818-221_5818-216del	NM_003127.4:c.5818-220_5818-216del	NM_003127.4:c.5818-219_5818-216del	NM_003127.4:c.5818-217_5818-216del	NM_003127.4:c.5818-216del	NM_003127.4:c.5818-216dup	NM_003127.4:c.5818-217_5818-216dup	NM_003127.4:c.5818-218_5818-216dup	NM_003127.4:c.5818-219_5818-216dup	NM_003127.4:c.5818-220_5818-216dup	NM_003127.4:c.5818-221_5818-216dup
SPTAN1 transcript variant X1	XM_005252145.1:c.5869-241=	XM_005252145.1:c.5869-231_5869-216del	XM_005252145.1:c.5869-230_5869-216del	XM_005252145.1:c.5869-229_5869-216del	XM_005252145.1:c.5869-228_5869-216del	XM_005252145.1:c.5869-227_5869-216del	XM_005252145.1:c.5869-226_5869-216del	XM_005252145.1:c.5869-225_5869-216del	XM_005252145.1:c.5869-224_5869-216del	XM_005252145.1:c.5869-223_5869-216del	XM_005252145.1:c.5869-222_5869-216del	XM_005252145.1:c.5869-221_5869-216del	XM_005252145.1:c.5869-220_5869-216del	XM_005252145.1:c.5869-219_5869-216del	XM_005252145.1:c.5869-217_5869-216del	XM_005252145.1:c.5869-216del	XM_005252145.1:c.5869-216dup	XM_005252145.1:c.5869-217_5869-216dup	XM_005252145.1:c.5869-218_5869-216dup	XM_005252145.1:c.5869-219_5869-216dup	XM_005252145.1:c.5869-220_5869-216dup	XM_005252145.1:c.5869-221_5869-216dup
SPTAN1 transcript variant X10	XM_006717251.3:c.5773-241=	XM_006717251.3:c.5773-231_5773-216del	XM_006717251.3:c.5773-230_5773-216del	XM_006717251.3:c.5773-229_5773-216del	XM_006717251.3:c.5773-228_5773-216del	XM_006717251.3:c.5773-227_5773-216del	XM_006717251.3:c.5773-226_5773-216del	XM_006717251.3:c.5773-225_5773-216del	XM_006717251.3:c.5773-224_5773-216del	XM_006717251.3:c.5773-223_5773-216del	XM_006717251.3:c.5773-222_5773-216del	XM_006717251.3:c.5773-221_5773-216del	XM_006717251.3:c.5773-220_5773-216del	XM_006717251.3:c.5773-219_5773-216del	XM_006717251.3:c.5773-217_5773-216del	XM_006717251.3:c.5773-216del	XM_006717251.3:c.5773-216dup	XM_006717251.3:c.5773-217_5773-216dup	XM_006717251.3:c.5773-218_5773-216dup	XM_006717251.3:c.5773-219_5773-216dup	XM_006717251.3:c.5773-220_5773-216dup	XM_006717251.3:c.5773-221_5773-216dup
SPTAN1 transcript variant X15	XM_017015060.2:c.5809-241=	XM_017015060.2:c.5809-231_5809-216del	XM_017015060.2:c.5809-230_5809-216del	XM_017015060.2:c.5809-229_5809-216del	XM_017015060.2:c.5809-228_5809-216del	XM_017015060.2:c.5809-227_5809-216del	XM_017015060.2:c.5809-226_5809-216del	XM_017015060.2:c.5809-225_5809-216del	XM_017015060.2:c.5809-224_5809-216del	XM_017015060.2:c.5809-223_5809-216del	XM_017015060.2:c.5809-222_5809-216del	XM_017015060.2:c.5809-221_5809-216del	XM_017015060.2:c.5809-220_5809-216del	XM_017015060.2:c.5809-219_5809-216del	XM_017015060.2:c.5809-217_5809-216del	XM_017015060.2:c.5809-216del	XM_017015060.2:c.5809-216dup	XM_017015060.2:c.5809-217_5809-216dup	XM_017015060.2:c.5809-218_5809-216dup	XM_017015060.2:c.5809-219_5809-216dup	XM_017015060.2:c.5809-220_5809-216dup	XM_017015060.2:c.5809-221_5809-216dup
SPTAN1 transcript variant X1	XM_047423783.1:c.5869-241=	XM_047423783.1:c.5869-231_5869-216del	XM_047423783.1:c.5869-230_5869-216del	XM_047423783.1:c.5869-229_5869-216del	XM_047423783.1:c.5869-228_5869-216del	XM_047423783.1:c.5869-227_5869-216del	XM_047423783.1:c.5869-226_5869-216del	XM_047423783.1:c.5869-225_5869-216del	XM_047423783.1:c.5869-224_5869-216del	XM_047423783.1:c.5869-223_5869-216del	XM_047423783.1:c.5869-222_5869-216del	XM_047423783.1:c.5869-221_5869-216del	XM_047423783.1:c.5869-220_5869-216del	XM_047423783.1:c.5869-219_5869-216del	XM_047423783.1:c.5869-217_5869-216del	XM_047423783.1:c.5869-216del	XM_047423783.1:c.5869-216dup	XM_047423783.1:c.5869-217_5869-216dup	XM_047423783.1:c.5869-218_5869-216dup	XM_047423783.1:c.5869-219_5869-216dup	XM_047423783.1:c.5869-220_5869-216dup	XM_047423783.1:c.5869-221_5869-216dup
SPTAN1 transcript variant X2	XM_047423784.1:c.5854-241=	XM_047423784.1:c.5854-231_5854-216del	XM_047423784.1:c.5854-230_5854-216del	XM_047423784.1:c.5854-229_5854-216del	XM_047423784.1:c.5854-228_5854-216del	XM_047423784.1:c.5854-227_5854-216del	XM_047423784.1:c.5854-226_5854-216del	XM_047423784.1:c.5854-225_5854-216del	XM_047423784.1:c.5854-224_5854-216del	XM_047423784.1:c.5854-223_5854-216del	XM_047423784.1:c.5854-222_5854-216del	XM_047423784.1:c.5854-221_5854-216del	XM_047423784.1:c.5854-220_5854-216del	XM_047423784.1:c.5854-219_5854-216del	XM_047423784.1:c.5854-217_5854-216del	XM_047423784.1:c.5854-216del	XM_047423784.1:c.5854-216dup	XM_047423784.1:c.5854-217_5854-216dup	XM_047423784.1:c.5854-218_5854-216dup	XM_047423784.1:c.5854-219_5854-216dup	XM_047423784.1:c.5854-220_5854-216dup	XM_047423784.1:c.5854-221_5854-216dup
SPTAN1 transcript variant X3	XM_047423785.1:c.5818-241=	XM_047423785.1:c.5818-231_5818-216del	XM_047423785.1:c.5818-230_5818-216del	XM_047423785.1:c.5818-229_5818-216del	XM_047423785.1:c.5818-228_5818-216del	XM_047423785.1:c.5818-227_5818-216del	XM_047423785.1:c.5818-226_5818-216del	XM_047423785.1:c.5818-225_5818-216del	XM_047423785.1:c.5818-224_5818-216del	XM_047423785.1:c.5818-223_5818-216del	XM_047423785.1:c.5818-222_5818-216del	XM_047423785.1:c.5818-221_5818-216del	XM_047423785.1:c.5818-220_5818-216del	XM_047423785.1:c.5818-219_5818-216del	XM_047423785.1:c.5818-217_5818-216del	XM_047423785.1:c.5818-216del	XM_047423785.1:c.5818-216dup	XM_047423785.1:c.5818-217_5818-216dup	XM_047423785.1:c.5818-218_5818-216dup	XM_047423785.1:c.5818-219_5818-216dup	XM_047423785.1:c.5818-220_5818-216dup	XM_047423785.1:c.5818-221_5818-216dup
SPTAN1 transcript variant X4	XM_047423786.1:c.5809-241=	XM_047423786.1:c.5809-231_5809-216del	XM_047423786.1:c.5809-230_5809-216del	XM_047423786.1:c.5809-229_5809-216del	XM_047423786.1:c.5809-228_5809-216del	XM_047423786.1:c.5809-227_5809-216del	XM_047423786.1:c.5809-226_5809-216del	XM_047423786.1:c.5809-225_5809-216del	XM_047423786.1:c.5809-224_5809-216del	XM_047423786.1:c.5809-223_5809-216del	XM_047423786.1:c.5809-222_5809-216del	XM_047423786.1:c.5809-221_5809-216del	XM_047423786.1:c.5809-220_5809-216del	XM_047423786.1:c.5809-219_5809-216del	XM_047423786.1:c.5809-217_5809-216del	XM_047423786.1:c.5809-216del	XM_047423786.1:c.5809-216dup	XM_047423786.1:c.5809-217_5809-216dup	XM_047423786.1:c.5809-218_5809-216dup	XM_047423786.1:c.5809-219_5809-216dup	XM_047423786.1:c.5809-220_5809-216dup	XM_047423786.1:c.5809-221_5809-216dup
SPTAN1 transcript variant X5	XM_047423787.1:c.5869-241=	XM_047423787.1:c.5869-231_5869-216del	XM_047423787.1:c.5869-230_5869-216del	XM_047423787.1:c.5869-229_5869-216del	XM_047423787.1:c.5869-228_5869-216del	XM_047423787.1:c.5869-227_5869-216del	XM_047423787.1:c.5869-226_5869-216del	XM_047423787.1:c.5869-225_5869-216del	XM_047423787.1:c.5869-224_5869-216del	XM_047423787.1:c.5869-223_5869-216del	XM_047423787.1:c.5869-222_5869-216del	XM_047423787.1:c.5869-221_5869-216del	XM_047423787.1:c.5869-220_5869-216del	XM_047423787.1:c.5869-219_5869-216del	XM_047423787.1:c.5869-217_5869-216del	XM_047423787.1:c.5869-216del	XM_047423787.1:c.5869-216dup	XM_047423787.1:c.5869-217_5869-216dup	XM_047423787.1:c.5869-218_5869-216dup	XM_047423787.1:c.5869-219_5869-216dup	XM_047423787.1:c.5869-220_5869-216dup	XM_047423787.1:c.5869-221_5869-216dup
SPTAN1 transcript variant X6	XM_047423788.1:c.5794-241=	XM_047423788.1:c.5794-231_5794-216del	XM_047423788.1:c.5794-230_5794-216del	XM_047423788.1:c.5794-229_5794-216del	XM_047423788.1:c.5794-228_5794-216del	XM_047423788.1:c.5794-227_5794-216del	XM_047423788.1:c.5794-226_5794-216del	XM_047423788.1:c.5794-225_5794-216del	XM_047423788.1:c.5794-224_5794-216del	XM_047423788.1:c.5794-223_5794-216del	XM_047423788.1:c.5794-222_5794-216del	XM_047423788.1:c.5794-221_5794-216del	XM_047423788.1:c.5794-220_5794-216del	XM_047423788.1:c.5794-219_5794-216del	XM_047423788.1:c.5794-217_5794-216del	XM_047423788.1:c.5794-216del	XM_047423788.1:c.5794-216dup	XM_047423788.1:c.5794-217_5794-216dup	XM_047423788.1:c.5794-218_5794-216dup	XM_047423788.1:c.5794-219_5794-216dup	XM_047423788.1:c.5794-220_5794-216dup	XM_047423788.1:c.5794-221_5794-216dup
SPTAN1 transcript variant X7	XM_047423789.1:c.5854-241=	XM_047423789.1:c.5854-231_5854-216del	XM_047423789.1:c.5854-230_5854-216del	XM_047423789.1:c.5854-229_5854-216del	XM_047423789.1:c.5854-228_5854-216del	XM_047423789.1:c.5854-227_5854-216del	XM_047423789.1:c.5854-226_5854-216del	XM_047423789.1:c.5854-225_5854-216del	XM_047423789.1:c.5854-224_5854-216del	XM_047423789.1:c.5854-223_5854-216del	XM_047423789.1:c.5854-222_5854-216del	XM_047423789.1:c.5854-221_5854-216del	XM_047423789.1:c.5854-220_5854-216del	XM_047423789.1:c.5854-219_5854-216del	XM_047423789.1:c.5854-217_5854-216del	XM_047423789.1:c.5854-216del	XM_047423789.1:c.5854-216dup	XM_047423789.1:c.5854-217_5854-216dup	XM_047423789.1:c.5854-218_5854-216dup	XM_047423789.1:c.5854-219_5854-216dup	XM_047423789.1:c.5854-220_5854-216dup	XM_047423789.1:c.5854-221_5854-216dup
SPTAN1 transcript variant X8	XM_047423790.1:c.5869-241=	XM_047423790.1:c.5869-231_5869-216del	XM_047423790.1:c.5869-230_5869-216del	XM_047423790.1:c.5869-229_5869-216del	XM_047423790.1:c.5869-228_5869-216del	XM_047423790.1:c.5869-227_5869-216del	XM_047423790.1:c.5869-226_5869-216del	XM_047423790.1:c.5869-225_5869-216del	XM_047423790.1:c.5869-224_5869-216del	XM_047423790.1:c.5869-223_5869-216del	XM_047423790.1:c.5869-222_5869-216del	XM_047423790.1:c.5869-221_5869-216del	XM_047423790.1:c.5869-220_5869-216del	XM_047423790.1:c.5869-219_5869-216del	XM_047423790.1:c.5869-217_5869-216del	XM_047423790.1:c.5869-216del	XM_047423790.1:c.5869-216dup	XM_047423790.1:c.5869-217_5869-216dup	XM_047423790.1:c.5869-218_5869-216dup	XM_047423790.1:c.5869-219_5869-216dup	XM_047423790.1:c.5869-220_5869-216dup	XM_047423790.1:c.5869-221_5869-216dup
SPTAN1 transcript variant X9	XM_047423791.1:c.5854-241=	XM_047423791.1:c.5854-231_5854-216del	XM_047423791.1:c.5854-230_5854-216del	XM_047423791.1:c.5854-229_5854-216del	XM_047423791.1:c.5854-228_5854-216del	XM_047423791.1:c.5854-227_5854-216del	XM_047423791.1:c.5854-226_5854-216del	XM_047423791.1:c.5854-225_5854-216del	XM_047423791.1:c.5854-224_5854-216del	XM_047423791.1:c.5854-223_5854-216del	XM_047423791.1:c.5854-222_5854-216del	XM_047423791.1:c.5854-221_5854-216del	XM_047423791.1:c.5854-220_5854-216del	XM_047423791.1:c.5854-219_5854-216del	XM_047423791.1:c.5854-217_5854-216del	XM_047423791.1:c.5854-216del	XM_047423791.1:c.5854-216dup	XM_047423791.1:c.5854-217_5854-216dup	XM_047423791.1:c.5854-218_5854-216dup	XM_047423791.1:c.5854-219_5854-216dup	XM_047423791.1:c.5854-220_5854-216dup	XM_047423791.1:c.5854-221_5854-216dup
SPTAN1 transcript variant X11	XM_047423793.1:c.5758-241=	XM_047423793.1:c.5758-231_5758-216del	XM_047423793.1:c.5758-230_5758-216del	XM_047423793.1:c.5758-229_5758-216del	XM_047423793.1:c.5758-228_5758-216del	XM_047423793.1:c.5758-227_5758-216del	XM_047423793.1:c.5758-226_5758-216del	XM_047423793.1:c.5758-225_5758-216del	XM_047423793.1:c.5758-224_5758-216del	XM_047423793.1:c.5758-223_5758-216del	XM_047423793.1:c.5758-222_5758-216del	XM_047423793.1:c.5758-221_5758-216del	XM_047423793.1:c.5758-220_5758-216del	XM_047423793.1:c.5758-219_5758-216del	XM_047423793.1:c.5758-217_5758-216del	XM_047423793.1:c.5758-216del	XM_047423793.1:c.5758-216dup	XM_047423793.1:c.5758-217_5758-216dup	XM_047423793.1:c.5758-218_5758-216dup	XM_047423793.1:c.5758-219_5758-216dup	XM_047423793.1:c.5758-220_5758-216dup	XM_047423793.1:c.5758-221_5758-216dup
SPTAN1 transcript variant X12	XM_047423794.1:c.5809-241=	XM_047423794.1:c.5809-231_5809-216del	XM_047423794.1:c.5809-230_5809-216del	XM_047423794.1:c.5809-229_5809-216del	XM_047423794.1:c.5809-228_5809-216del	XM_047423794.1:c.5809-227_5809-216del	XM_047423794.1:c.5809-226_5809-216del	XM_047423794.1:c.5809-225_5809-216del	XM_047423794.1:c.5809-224_5809-216del	XM_047423794.1:c.5809-223_5809-216del	XM_047423794.1:c.5809-222_5809-216del	XM_047423794.1:c.5809-221_5809-216del	XM_047423794.1:c.5809-220_5809-216del	XM_047423794.1:c.5809-219_5809-216del	XM_047423794.1:c.5809-217_5809-216del	XM_047423794.1:c.5809-216del	XM_047423794.1:c.5809-216dup	XM_047423794.1:c.5809-217_5809-216dup	XM_047423794.1:c.5809-218_5809-216dup	XM_047423794.1:c.5809-219_5809-216dup	XM_047423794.1:c.5809-220_5809-216dup	XM_047423794.1:c.5809-221_5809-216dup
SPTAN1 transcript variant X13	XM_047423795.1:c.5818-241=	XM_047423795.1:c.5818-231_5818-216del	XM_047423795.1:c.5818-230_5818-216del	XM_047423795.1:c.5818-229_5818-216del	XM_047423795.1:c.5818-228_5818-216del	XM_047423795.1:c.5818-227_5818-216del	XM_047423795.1:c.5818-226_5818-216del	XM_047423795.1:c.5818-225_5818-216del	XM_047423795.1:c.5818-224_5818-216del	XM_047423795.1:c.5818-223_5818-216del	XM_047423795.1:c.5818-222_5818-216del	XM_047423795.1:c.5818-221_5818-216del	XM_047423795.1:c.5818-220_5818-216del	XM_047423795.1:c.5818-219_5818-216del	XM_047423795.1:c.5818-217_5818-216del	XM_047423795.1:c.5818-216del	XM_047423795.1:c.5818-216dup	XM_047423795.1:c.5818-217_5818-216dup	XM_047423795.1:c.5818-218_5818-216dup	XM_047423795.1:c.5818-219_5818-216dup	XM_047423795.1:c.5818-220_5818-216dup	XM_047423795.1:c.5818-221_5818-216dup
SPTAN1 transcript variant X14	XM_047423796.1:c.5794-241=	XM_047423796.1:c.5794-231_5794-216del	XM_047423796.1:c.5794-230_5794-216del	XM_047423796.1:c.5794-229_5794-216del	XM_047423796.1:c.5794-228_5794-216del	XM_047423796.1:c.5794-227_5794-216del	XM_047423796.1:c.5794-226_5794-216del	XM_047423796.1:c.5794-225_5794-216del	XM_047423796.1:c.5794-224_5794-216del	XM_047423796.1:c.5794-223_5794-216del	XM_047423796.1:c.5794-222_5794-216del	XM_047423796.1:c.5794-221_5794-216del	XM_047423796.1:c.5794-220_5794-216del	XM_047423796.1:c.5794-219_5794-216del	XM_047423796.1:c.5794-217_5794-216del	XM_047423796.1:c.5794-216del	XM_047423796.1:c.5794-216dup	XM_047423796.1:c.5794-217_5794-216dup	XM_047423796.1:c.5794-218_5794-216dup	XM_047423796.1:c.5794-219_5794-216dup	XM_047423796.1:c.5794-220_5794-216dup	XM_047423796.1:c.5794-221_5794-216dup
SPTAN1 transcript variant X16	XM_047423797.1:c.5794-241=	XM_047423797.1:c.5794-231_5794-216del	XM_047423797.1:c.5794-230_5794-216del	XM_047423797.1:c.5794-229_5794-216del	XM_047423797.1:c.5794-228_5794-216del	XM_047423797.1:c.5794-227_5794-216del	XM_047423797.1:c.5794-226_5794-216del	XM_047423797.1:c.5794-225_5794-216del	XM_047423797.1:c.5794-224_5794-216del	XM_047423797.1:c.5794-223_5794-216del	XM_047423797.1:c.5794-222_5794-216del	XM_047423797.1:c.5794-221_5794-216del	XM_047423797.1:c.5794-220_5794-216del	XM_047423797.1:c.5794-219_5794-216del	XM_047423797.1:c.5794-217_5794-216del	XM_047423797.1:c.5794-216del	XM_047423797.1:c.5794-216dup	XM_047423797.1:c.5794-217_5794-216dup	XM_047423797.1:c.5794-218_5794-216dup	XM_047423797.1:c.5794-219_5794-216dup	XM_047423797.1:c.5794-220_5794-216dup	XM_047423797.1:c.5794-221_5794-216dup
SPTAN1 transcript variant X17	XM_047423798.1:c.5773-241=	XM_047423798.1:c.5773-231_5773-216del	XM_047423798.1:c.5773-230_5773-216del	XM_047423798.1:c.5773-229_5773-216del	XM_047423798.1:c.5773-228_5773-216del	XM_047423798.1:c.5773-227_5773-216del	XM_047423798.1:c.5773-226_5773-216del	XM_047423798.1:c.5773-225_5773-216del	XM_047423798.1:c.5773-224_5773-216del	XM_047423798.1:c.5773-223_5773-216del	XM_047423798.1:c.5773-222_5773-216del	XM_047423798.1:c.5773-221_5773-216del	XM_047423798.1:c.5773-220_5773-216del	XM_047423798.1:c.5773-219_5773-216del	XM_047423798.1:c.5773-217_5773-216del	XM_047423798.1:c.5773-216del	XM_047423798.1:c.5773-216dup	XM_047423798.1:c.5773-217_5773-216dup	XM_047423798.1:c.5773-218_5773-216dup	XM_047423798.1:c.5773-219_5773-216dup	XM_047423798.1:c.5773-220_5773-216dup	XM_047423798.1:c.5773-221_5773-216dup
SPTAN1 transcript variant X18	XM_047423799.1:c.5758-241=	XM_047423799.1:c.5758-231_5758-216del	XM_047423799.1:c.5758-230_5758-216del	XM_047423799.1:c.5758-229_5758-216del	XM_047423799.1:c.5758-228_5758-216del	XM_047423799.1:c.5758-227_5758-216del	XM_047423799.1:c.5758-226_5758-216del	XM_047423799.1:c.5758-225_5758-216del	XM_047423799.1:c.5758-224_5758-216del	XM_047423799.1:c.5758-223_5758-216del	XM_047423799.1:c.5758-222_5758-216del	XM_047423799.1:c.5758-221_5758-216del	XM_047423799.1:c.5758-220_5758-216del	XM_047423799.1:c.5758-219_5758-216del	XM_047423799.1:c.5758-217_5758-216del	XM_047423799.1:c.5758-216del	XM_047423799.1:c.5758-216dup	XM_047423799.1:c.5758-217_5758-216dup	XM_047423799.1:c.5758-218_5758-216dup	XM_047423799.1:c.5758-219_5758-216dup	XM_047423799.1:c.5758-220_5758-216dup	XM_047423799.1:c.5758-221_5758-216dup

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#.

71 SubSNP, 42 Frequency, 4 ClinVar submissions

No	Submitter	Submission ID	Date (Build)
1	HGSV	ss80781043	Dec 15, 2007 (130)
2	HGSV	ss82258196	Sep 08, 2015 (146)
3	GMI	ss288986701	May 04, 2012 (137)
4	1000GENOMES	ss1368821141	Aug 21, 2014 (142)
5	SWEGEN	ss3005647165	Nov 08, 2017 (151)
6	MCHAISSO	ss3064354251	Nov 08, 2017 (151)
7	MCHAISSO	ss3065247125	Nov 08, 2017 (151)
8	EVA_DECODE	ss3724820265	Jul 13, 2019 (153)
9	EVA_DECODE	ss3724820266	Jul 13, 2019 (153)
10	EVA_DECODE	ss3724820267	Jul 13, 2019 (153)
11	EVA_DECODE	ss3724820268	Jul 13, 2019 (153)
12	EVA_DECODE	ss3724820269	Jul 13, 2019 (153)
13	ACPOP	ss3736904743	Jul 13, 2019 (153)
14	ACPOP	ss3736904744	Jul 13, 2019 (153)
15	ACPOP	ss3736904745	Jul 13, 2019 (153)
16	PACBIO	ss3786532180	Jul 13, 2019 (153)
17	PACBIO	ss3791729424	Jul 13, 2019 (153)
18	PACBIO	ss3791729425	Jul 13, 2019 (153)
19	PACBIO	ss3796610989	Jul 13, 2019 (153)
20	PACBIO	ss3796610990	Jul 13, 2019 (153)
21	KHV_HUMAN_GENOMES	ss3812895985	Jul 13, 2019 (153)
22	EVA	ss3831876437	Apr 26, 2020 (154)
23	KOGIC	ss3966823329	Apr 26, 2020 (154)
24	KOGIC	ss3966823330	Apr 26, 2020 (154)
25	KOGIC	ss3966823331	Apr 26, 2020 (154)
26	KOGIC	ss3966823332	Apr 26, 2020 (154)
27	KOGIC	ss3966823333	Apr 26, 2020 (154)
28	KOGIC	ss3966823334	Apr 26, 2020 (154)
29	GNOMAD	ss4210043028	Apr 26, 2021 (155)
30	GNOMAD	ss4210043029	Apr 26, 2021 (155)
31	GNOMAD	ss4210043030	Apr 26, 2021 (155)
32	GNOMAD	ss4210043031	Apr 26, 2021 (155)
33	GNOMAD	ss4210043032	Apr 26, 2021 (155)
34	GNOMAD	ss4210043033	Apr 26, 2021 (155)
35	GNOMAD	ss4210043034	Apr 26, 2021 (155)
36	GNOMAD	ss4210043035	Apr 26, 2021 (155)
37	GNOMAD	ss4210043036	Apr 26, 2021 (155)
38	GNOMAD	ss4210043037	Apr 26, 2021 (155)
39	GNOMAD	ss4210043038	Apr 26, 2021 (155)
40	GNOMAD	ss4210043039	Apr 26, 2021 (155)
41	GNOMAD	ss4210043040	Apr 26, 2021 (155)
42	GNOMAD	ss4210043041	Apr 26, 2021 (155)
43	GNOMAD	ss4210043042	Apr 26, 2021 (155)
44	GNOMAD	ss4210043043	Apr 26, 2021 (155)
45	GNOMAD	ss4210043044	Apr 26, 2021 (155)
46	GNOMAD	ss4210043045	Apr 26, 2021 (155)
47	GNOMAD	ss4210043046	Apr 26, 2021 (155)
48	GNOMAD	ss4210043047	Apr 26, 2021 (155)
49	GNOMAD	ss4210043048	Apr 26, 2021 (155)
50	TOMMO_GENOMICS	ss5195460113	Apr 26, 2021 (155)
51	TOMMO_GENOMICS	ss5195460114	Apr 26, 2021 (155)
52	TOMMO_GENOMICS	ss5195460115	Apr 26, 2021 (155)
53	TOMMO_GENOMICS	ss5195460116	Apr 26, 2021 (155)
54	TOMMO_GENOMICS	ss5195460117	Apr 26, 2021 (155)
55	TOMMO_GENOMICS	ss5195460118	Apr 26, 2021 (155)
56	1000G_HIGH_COVERAGE	ss5282299599	Oct 16, 2022 (156)
57	1000G_HIGH_COVERAGE	ss5282299600	Oct 16, 2022 (156)
58	1000G_HIGH_COVERAGE	ss5282299601	Oct 16, 2022 (156)
59	1000G_HIGH_COVERAGE	ss5282299602	Oct 16, 2022 (156)
60	1000G_HIGH_COVERAGE	ss5282299603	Oct 16, 2022 (156)
61	HUGCELL_USP	ss5478156617	Oct 16, 2022 (156)
62	HUGCELL_USP	ss5478156618	Oct 16, 2022 (156)
63	HUGCELL_USP	ss5478156619	Oct 16, 2022 (156)
64	HUGCELL_USP	ss5478156620	Oct 16, 2022 (156)
65	HUGCELL_USP	ss5478156621	Oct 16, 2022 (156)
66	TOMMO_GENOMICS	ss5740040753	Oct 16, 2022 (156)
67	TOMMO_GENOMICS	ss5740040754	Oct 16, 2022 (156)
68	TOMMO_GENOMICS	ss5740040755	Oct 16, 2022 (156)
69	TOMMO_GENOMICS	ss5740040757	Oct 16, 2022 (156)
70	EVA	ss5829795596	Oct 16, 2022 (156)
71	EVA	ss5829795597	Oct 16, 2022 (156)
72	1000Genomes	NC_000009.11 - 131386366	Oct 12, 2018 (152)
73	gnomAD - Genomes Submission ignored due to conflicting rows: Row 338679538 (NC_000009.12:128624086::A 14100/61268) Row 338679539 (NC_000009.12:128624086::AA 238/61594) Row 338679540 (NC_000009.12:128624086::AAA 18/61708)...	-	Apr 26, 2021 (155)
74	gnomAD - Genomes Submission ignored due to conflicting rows: Row 338679538 (NC_000009.12:128624086::A 14100/61268) Row 338679539 (NC_000009.12:128624086::AA 238/61594) Row 338679540 (NC_000009.12:128624086::AAA 18/61708)...	-	Apr 26, 2021 (155)
75	gnomAD - Genomes Submission ignored due to conflicting rows: Row 338679538 (NC_000009.12:128624086::A 14100/61268) Row 338679539 (NC_000009.12:128624086::AA 238/61594) Row 338679540 (NC_000009.12:128624086::AAA 18/61708)...	-	Apr 26, 2021 (155)
76	gnomAD - Genomes Submission ignored due to conflicting rows: Row 338679538 (NC_000009.12:128624086::A 14100/61268) Row 338679539 (NC_000009.12:128624086::AA 238/61594) Row 338679540 (NC_000009.12:128624086::AAA 18/61708)...	-	Apr 26, 2021 (155)
77	gnomAD - Genomes Submission ignored due to conflicting rows: Row 338679538 (NC_000009.12:128624086::A 14100/61268) Row 338679539 (NC_000009.12:128624086::AA 238/61594) Row 338679540 (NC_000009.12:128624086::AAA 18/61708)...	-	Apr 26, 2021 (155)
78	gnomAD - Genomes Submission ignored due to conflicting rows: Row 338679538 (NC_000009.12:128624086::A 14100/61268) Row 338679539 (NC_000009.12:128624086::AA 238/61594) Row 338679540 (NC_000009.12:128624086::AAA 18/61708)...	-	Apr 26, 2021 (155)
79	gnomAD - Genomes Submission ignored due to conflicting rows: Row 338679538 (NC_000009.12:128624086::A 14100/61268) Row 338679539 (NC_000009.12:128624086::AA 238/61594) Row 338679540 (NC_000009.12:128624086::AAA 18/61708)...	-	Apr 26, 2021 (155)
80	gnomAD - Genomes Submission ignored due to conflicting rows: Row 338679538 (NC_000009.12:128624086::A 14100/61268) Row 338679539 (NC_000009.12:128624086::AA 238/61594) Row 338679540 (NC_000009.12:128624086::AAA 18/61708)...	-	Apr 26, 2021 (155)
81	gnomAD - Genomes Submission ignored due to conflicting rows: Row 338679538 (NC_000009.12:128624086::A 14100/61268) Row 338679539 (NC_000009.12:128624086::AA 238/61594) Row 338679540 (NC_000009.12:128624086::AAA 18/61708)...	-	Apr 26, 2021 (155)
82	gnomAD - Genomes Submission ignored due to conflicting rows: Row 338679538 (NC_000009.12:128624086::A 14100/61268) Row 338679539 (NC_000009.12:128624086::AA 238/61594) Row 338679540 (NC_000009.12:128624086::AAA 18/61708)...	-	Apr 26, 2021 (155)
83	gnomAD - Genomes Submission ignored due to conflicting rows: Row 338679538 (NC_000009.12:128624086::A 14100/61268) Row 338679539 (NC_000009.12:128624086::AA 238/61594) Row 338679540 (NC_000009.12:128624086::AAA 18/61708)...	-	Apr 26, 2021 (155)
84	gnomAD - Genomes Submission ignored due to conflicting rows: Row 338679538 (NC_000009.12:128624086::A 14100/61268) Row 338679539 (NC_000009.12:128624086::AA 238/61594) Row 338679540 (NC_000009.12:128624086::AAA 18/61708)...	-	Apr 26, 2021 (155)
85	gnomAD - Genomes Submission ignored due to conflicting rows: Row 338679538 (NC_000009.12:128624086::A 14100/61268) Row 338679539 (NC_000009.12:128624086::AA 238/61594) Row 338679540 (NC_000009.12:128624086::AAA 18/61708)...	-	Apr 26, 2021 (155)
86	gnomAD - Genomes Submission ignored due to conflicting rows: Row 338679538 (NC_000009.12:128624086::A 14100/61268) Row 338679539 (NC_000009.12:128624086::AA 238/61594) Row 338679540 (NC_000009.12:128624086::AAA 18/61708)...	-	Apr 26, 2021 (155)
87	gnomAD - Genomes Submission ignored due to conflicting rows: Row 338679538 (NC_000009.12:128624086::A 14100/61268) Row 338679539 (NC_000009.12:128624086::AA 238/61594) Row 338679540 (NC_000009.12:128624086::AAA 18/61708)...	-	Apr 26, 2021 (155)
88	gnomAD - Genomes Submission ignored due to conflicting rows: Row 338679538 (NC_000009.12:128624086::A 14100/61268) Row 338679539 (NC_000009.12:128624086::AA 238/61594) Row 338679540 (NC_000009.12:128624086::AAA 18/61708)...	-	Apr 26, 2021 (155)
89	gnomAD - Genomes Submission ignored due to conflicting rows: Row 338679538 (NC_000009.12:128624086::A 14100/61268) Row 338679539 (NC_000009.12:128624086::AA 238/61594) Row 338679540 (NC_000009.12:128624086::AAA 18/61708)...	-	Apr 26, 2021 (155)
90	gnomAD - Genomes Submission ignored due to conflicting rows: Row 338679538 (NC_000009.12:128624086::A 14100/61268) Row 338679539 (NC_000009.12:128624086::AA 238/61594) Row 338679540 (NC_000009.12:128624086::AAA 18/61708)...	-	Apr 26, 2021 (155)
91	gnomAD - Genomes Submission ignored due to conflicting rows: Row 338679538 (NC_000009.12:128624086::A 14100/61268) Row 338679539 (NC_000009.12:128624086::AA 238/61594) Row 338679540 (NC_000009.12:128624086::AAA 18/61708)...	-	Apr 26, 2021 (155)
92	gnomAD - Genomes Submission ignored due to conflicting rows: Row 338679538 (NC_000009.12:128624086::A 14100/61268) Row 338679539 (NC_000009.12:128624086::AA 238/61594) Row 338679540 (NC_000009.12:128624086::AAA 18/61708)...	-	Apr 26, 2021 (155)
93	gnomAD - Genomes Submission ignored due to conflicting rows: Row 338679538 (NC_000009.12:128624086::A 14100/61268) Row 338679539 (NC_000009.12:128624086::AA 238/61594) Row 338679540 (NC_000009.12:128624086::AAA 18/61708)...	-	Apr 26, 2021 (155)
94	Korean Genome Project Submission ignored due to conflicting rows: Row 23201330 (NC_000009.12:128624087:AAAAAAAAAAA: 732/1616) Row 23201331 (NC_000009.12:128624088:AAAAAAAAAA: 20/1616) Row 23201332 (NC_000009.12:128624086:AAAAAAAAAAAA: 23/1616)...	-	Apr 26, 2020 (154)
95	Korean Genome Project Submission ignored due to conflicting rows: Row 23201330 (NC_000009.12:128624087:AAAAAAAAAAA: 732/1616) Row 23201331 (NC_000009.12:128624088:AAAAAAAAAA: 20/1616) Row 23201332 (NC_000009.12:128624086:AAAAAAAAAAAA: 23/1616)...	-	Apr 26, 2020 (154)
96	Korean Genome Project Submission ignored due to conflicting rows: Row 23201330 (NC_000009.12:128624087:AAAAAAAAAAA: 732/1616) Row 23201331 (NC_000009.12:128624088:AAAAAAAAAA: 20/1616) Row 23201332 (NC_000009.12:128624086:AAAAAAAAAAAA: 23/1616)...	-	Apr 26, 2020 (154)
97	Korean Genome Project Submission ignored due to conflicting rows: Row 23201330 (NC_000009.12:128624087:AAAAAAAAAAA: 732/1616) Row 23201331 (NC_000009.12:128624088:AAAAAAAAAA: 20/1616) Row 23201332 (NC_000009.12:128624086:AAAAAAAAAAAA: 23/1616)...	-	Apr 26, 2020 (154)
98	Korean Genome Project Submission ignored due to conflicting rows: Row 23201330 (NC_000009.12:128624087:AAAAAAAAAAA: 732/1616) Row 23201331 (NC_000009.12:128624088:AAAAAAAAAA: 20/1616) Row 23201332 (NC_000009.12:128624086:AAAAAAAAAAAA: 23/1616)...	-	Apr 26, 2020 (154)
99	Korean Genome Project Submission ignored due to conflicting rows: Row 23201330 (NC_000009.12:128624087:AAAAAAAAAAA: 732/1616) Row 23201331 (NC_000009.12:128624088:AAAAAAAAAA: 20/1616) Row 23201332 (NC_000009.12:128624086:AAAAAAAAAAAA: 23/1616)...	-	Apr 26, 2020 (154)
100	Northern Sweden Submission ignored due to conflicting rows: Row 10189608 (NC_000009.11:131386365:AAAAAAAAAAA: 53/544) Row 10189609 (NC_000009.11:131386365::A 34/544) Row 10189610 (NC_000009.11:131386365:AAAAAAAAAAAA: 6/544)	-	Jul 13, 2019 (153)
101	Northern Sweden Submission ignored due to conflicting rows: Row 10189608 (NC_000009.11:131386365:AAAAAAAAAAA: 53/544) Row 10189609 (NC_000009.11:131386365::A 34/544) Row 10189610 (NC_000009.11:131386365:AAAAAAAAAAAA: 6/544)	-	Jul 13, 2019 (153)
102	Northern Sweden Submission ignored due to conflicting rows: Row 10189608 (NC_000009.11:131386365:AAAAAAAAAAA: 53/544) Row 10189609 (NC_000009.11:131386365::A 34/544) Row 10189610 (NC_000009.11:131386365:AAAAAAAAAAAA: 6/544)	-	Jul 13, 2019 (153)
103	8.3KJPN Submission ignored due to conflicting rows: Row 53429420 (NC_000009.11:131386365:AAAAAAAAAAA: 7248/16366) Row 53429421 (NC_000009.11:131386365:AAAAAAAAAAAA: 3/16366) Row 53429422 (NC_000009.11:131386365::A 187/16366)...	-	Apr 26, 2021 (155)
104	8.3KJPN Submission ignored due to conflicting rows: Row 53429420 (NC_000009.11:131386365:AAAAAAAAAAA: 7248/16366) Row 53429421 (NC_000009.11:131386365:AAAAAAAAAAAA: 3/16366) Row 53429422 (NC_000009.11:131386365::A 187/16366)...	-	Apr 26, 2021 (155)
105	8.3KJPN Submission ignored due to conflicting rows: Row 53429420 (NC_000009.11:131386365:AAAAAAAAAAA: 7248/16366) Row 53429421 (NC_000009.11:131386365:AAAAAAAAAAAA: 3/16366) Row 53429422 (NC_000009.11:131386365::A 187/16366)...	-	Apr 26, 2021 (155)
106	8.3KJPN Submission ignored due to conflicting rows: Row 53429420 (NC_000009.11:131386365:AAAAAAAAAAA: 7248/16366) Row 53429421 (NC_000009.11:131386365:AAAAAAAAAAAA: 3/16366) Row 53429422 (NC_000009.11:131386365::A 187/16366)...	-	Apr 26, 2021 (155)
107	8.3KJPN Submission ignored due to conflicting rows: Row 53429420 (NC_000009.11:131386365:AAAAAAAAAAA: 7248/16366) Row 53429421 (NC_000009.11:131386365:AAAAAAAAAAAA: 3/16366) Row 53429422 (NC_000009.11:131386365::A 187/16366)...	-	Apr 26, 2021 (155)
108	8.3KJPN Submission ignored due to conflicting rows: Row 53429420 (NC_000009.11:131386365:AAAAAAAAAAA: 7248/16366) Row 53429421 (NC_000009.11:131386365:AAAAAAAAAAAA: 3/16366) Row 53429422 (NC_000009.11:131386365::A 187/16366)...	-	Apr 26, 2021 (155)
109	14KJPN Submission ignored due to conflicting rows: Row 73877857 (NC_000009.12:128624086:AAAAAAAAAAA: 13086/27812) Row 73877858 (NC_000009.12:128624086::A 371/27812) Row 73877859 (NC_000009.12:128624086:AA: 1023/27812)...	-	Oct 16, 2022 (156)
110	14KJPN Submission ignored due to conflicting rows: Row 73877857 (NC_000009.12:128624086:AAAAAAAAAAA: 13086/27812) Row 73877858 (NC_000009.12:128624086::A 371/27812) Row 73877859 (NC_000009.12:128624086:AA: 1023/27812)...	-	Oct 16, 2022 (156)
111	14KJPN Submission ignored due to conflicting rows: Row 73877857 (NC_000009.12:128624086:AAAAAAAAAAA: 13086/27812) Row 73877858 (NC_000009.12:128624086::A 371/27812) Row 73877859 (NC_000009.12:128624086:AA: 1023/27812)...	-	Oct 16, 2022 (156)
112	14KJPN Submission ignored due to conflicting rows: Row 73877857 (NC_000009.12:128624086:AAAAAAAAAAA: 13086/27812) Row 73877858 (NC_000009.12:128624086::A 371/27812) Row 73877859 (NC_000009.12:128624086:AA: 1023/27812)...	-	Oct 16, 2022 (156)
113	ALFA	NC_000009.12 - 128624087	Apr 26, 2021 (155)
114	ClinVar	RCV001594688.3	Oct 16, 2022 (156)
115	ClinVar	RCV001621362.3	Oct 16, 2022 (156)
116	ClinVar	RCV001679787.1	Oct 16, 2022 (156)
117	ClinVar	RCV001725104.1	Oct 16, 2022 (156)

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).

Associated ID	History Updated (Build)
rs60202667	May 23, 2008 (130)
rs71684634	May 11, 2012 (137)
rs201807369	May 11, 2012 (137)

Added to this RefSNP Cluster:

Submission IDs	Observation SPDI	Canonical SPDI	Source RSIDs
ss4210043048	NC_000009.12:128624086:AAAAAAAAAAA… NC_000009.12:128624086:AAAAAAAAAAAAAAAA:	NC_000009.12:128624086:AAAAAAAAAAA… NC_000009.12:128624086:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAA	(self)
10991690799	NC_000009.12:128624086:AAAAAAAAAAA… NC_000009.12:128624086:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAA	NC_000009.12:128624086:AAAAAAAAAAA… NC_000009.12:128624086:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAA	(self)
ss4210043047	NC_000009.12:128624086:AAAAAAAAAAA… NC_000009.12:128624086:AAAAAAAAAAAAAAA:	NC_000009.12:128624086:AAAAAAAAAAA… NC_000009.12:128624086:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAA	(self)
10991690799	NC_000009.12:128624086:AAAAAAAAAAA… NC_000009.12:128624086:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAA	NC_000009.12:128624086:AAAAAAAAAAA… NC_000009.12:128624086:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAA	(self)
ss4210043046	NC_000009.12:128624086:AAAAAAAAAAA… NC_000009.12:128624086:AAAAAAAAAAAAAA:	NC_000009.12:128624086:AAAAAAAAAAA… NC_000009.12:128624086:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA	(self)
10991690799	NC_000009.12:128624086:AAAAAAAAAAA… NC_000009.12:128624086:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA	NC_000009.12:128624086:AAAAAAAAAAA… NC_000009.12:128624086:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA	(self)
ss4210043045	NC_000009.12:128624086:AAAAAAAAAAA… NC_000009.12:128624086:AAAAAAAAAAAAA:	NC_000009.12:128624086:AAAAAAAAAAA… NC_000009.12:128624086:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA	(self)
10991690799	NC_000009.12:128624086:AAAAAAAAAAA… NC_000009.12:128624086:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA	NC_000009.12:128624086:AAAAAAAAAAA… NC_000009.12:128624086:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA	(self)
ss3005647165, ss3736904745, ss5195460114, ss5829795597	NC_000009.11:131386365:AAAAAAAAAAA… NC_000009.11:131386365:AAAAAAAAAAAA:	NC_000009.12:128624086:AAAAAAAAAAA… NC_000009.12:128624086:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA	(self)
ss3724820269, ss3966823331, ss4210043044, ss5282299599, ss5478156621	NC_000009.12:128624086:AAAAAAAAAAA… NC_000009.12:128624086:AAAAAAAAAAAA:	NC_000009.12:128624086:AAAAAAAAAAA… NC_000009.12:128624086:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA	(self)
RCV001594688.3, 10991690799	NC_000009.12:128624086:AAAAAAAAAAA… NC_000009.12:128624086:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA	NC_000009.12:128624086:AAAAAAAAAAA… NC_000009.12:128624086:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA	(self)
ss82258196	NC_000009.9:128465934:AAAAAAAAAAA:	NC_000009.12:128624086:AAAAAAAAAAA… NC_000009.12:128624086:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA	(self)
ss288986701	NC_000009.10:130426186:AAAAAAAAAAA:	NC_000009.12:128624086:AAAAAAAAAAA… NC_000009.12:128624086:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA	(self)
47918725, ss1368821141, ss3736904743, ss3786532180, ss3791729424, ss3796610989, ss3831876437, ss5195460113, ss5829795596	NC_000009.11:131386365:AAAAAAAAAAA:	NC_000009.12:128624086:AAAAAAAAAAA… NC_000009.12:128624086:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA	(self)
ss3064354251, ss3065247125, ss3812895985, ss4210043043, ss5282299601, ss5478156619, ss5740040753	NC_000009.12:128624086:AAAAAAAAAAA:	NC_000009.12:128624086:AAAAAAAAAAA… NC_000009.12:128624086:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA	(self)
RCV001621362.3, 10991690799	NC_000009.12:128624086:AAAAAAAAAAA… NC_000009.12:128624086:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA	NC_000009.12:128624086:AAAAAAAAAAA… NC_000009.12:128624086:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA	(self)
ss3724820268, ss3966823329	NC_000009.12:128624087:AAAAAAAAAAA:	NC_000009.12:128624086:AAAAAAAAAAA… NC_000009.12:128624086:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA	(self)
ss4210043042, ss5478156620	NC_000009.12:128624086:AAAAAAAAAA:	NC_000009.12:128624086:AAAAAAAAAAA… NC_000009.12:128624086:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA	(self)
10991690799	NC_000009.12:128624086:AAAAAAAAAAA… NC_000009.12:128624086:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA	NC_000009.12:128624086:AAAAAAAAAAA… NC_000009.12:128624086:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA	(self)
ss3966823330	NC_000009.12:128624088:AAAAAAAAAA:	NC_000009.12:128624086:AAAAAAAAAAA… NC_000009.12:128624086:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA	(self)
ss4210043041	NC_000009.12:128624086:AAAAAAAAA:	NC_000009.12:128624086:AAAAAAAAAAA… NC_000009.12:128624086:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA	(self)
10991690799	NC_000009.12:128624086:AAAAAAAAAAA… NC_000009.12:128624086:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA	NC_000009.12:128624086:AAAAAAAAAAA… NC_000009.12:128624086:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA	(self)
ss4210043040	NC_000009.12:128624086:AAAAAAAA:	NC_000009.12:128624086:AAAAAAAAAAA… NC_000009.12:128624086:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA	(self)
10991690799	NC_000009.12:128624086:AAAAAAAAAAA… NC_000009.12:128624086:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA	NC_000009.12:128624086:AAAAAAAAAAA… NC_000009.12:128624086:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA	(self)
ss4210043039, ss5282299603	NC_000009.12:128624086:AAAAAAA:	NC_000009.12:128624086:AAAAAAAAAAA… NC_000009.12:128624086:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA	(self)
10991690799	NC_000009.12:128624086:AAAAAAAAAAA… NC_000009.12:128624086:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA	NC_000009.12:128624086:AAAAAAAAAAA… NC_000009.12:128624086:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA	(self)
ss4210043038	NC_000009.12:128624086:AAAAAA:	NC_000009.12:128624086:AAAAAAAAAAA… NC_000009.12:128624086:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA	(self)
10991690799	NC_000009.12:128624086:AAAAAAAAAAA… NC_000009.12:128624086:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA	NC_000009.12:128624086:AAAAAAAAAAA… NC_000009.12:128624086:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA	(self)
ss4210043037	NC_000009.12:128624086:AAAAA:	NC_000009.12:128624086:AAAAAAAAAAA… NC_000009.12:128624086:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA	(self)
10991690799	NC_000009.12:128624086:AAAAAAAAAAA… NC_000009.12:128624086:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA	NC_000009.12:128624086:AAAAAAAAAAA… NC_000009.12:128624086:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA	(self)
ss4210043036	NC_000009.12:128624086:AAAA:	NC_000009.12:128624086:AAAAAAAAAAA… NC_000009.12:128624086:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA	(self)
10991690799	NC_000009.12:128624086:AAAAAAAAAAA… NC_000009.12:128624086:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA	NC_000009.12:128624086:AAAAAAAAAAA… NC_000009.12:128624086:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA	(self)
ss5195460116	NC_000009.11:131386365:AA:	NC_000009.12:128624086:AAAAAAAAAAA… NC_000009.12:128624086:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA	(self)
ss4210043035, ss5282299602, ss5740040755	NC_000009.12:128624086:AA:	NC_000009.12:128624086:AAAAAAAAAAA… NC_000009.12:128624086:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA	(self)
10991690799	NC_000009.12:128624086:AAAAAAAAAAA… NC_000009.12:128624086:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA	NC_000009.12:128624086:AAAAAAAAAAA… NC_000009.12:128624086:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA	(self)
ss3966823334	NC_000009.12:128624096:AA:	NC_000009.12:128624086:AAAAAAAAAAA… NC_000009.12:128624086:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA	(self)
ss5195460118	NC_000009.11:131386365:A:	NC_000009.12:128624086:AAAAAAAAAAA… NC_000009.12:128624086:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA	(self)
ss4210043034, ss5282299600, ss5478156617, ss5740040757	NC_000009.12:128624086:A:	NC_000009.12:128624086:AAAAAAAAAAA… NC_000009.12:128624086:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA	(self)
RCV001725104.1, 10991690799	NC_000009.12:128624086:AAAAAAAAAAA… NC_000009.12:128624086:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA	NC_000009.12:128624086:AAAAAAAAAAA… NC_000009.12:128624086:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA	(self)
ss3724820267, ss3966823333	NC_000009.12:128624097:A:	NC_000009.12:128624086:AAAAAAAAAAA… NC_000009.12:128624086:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA	(self)
ss3736904744, ss3791729425, ss3796610990, ss5195460115	NC_000009.11:131386365::A	NC_000009.12:128624086:AAAAAAAAAAA… NC_000009.12:128624086:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA	(self)
ss4210043028, ss5478156618, ss5740040754	NC_000009.12:128624086::A	NC_000009.12:128624086:AAAAAAAAAAA… NC_000009.12:128624086:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA	(self)
RCV001679787.1, 10991690799	NC_000009.12:128624086:AAAAAAAAAAA… NC_000009.12:128624086:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA	NC_000009.12:128624086:AAAAAAAAAAA… NC_000009.12:128624086:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA	(self)
ss3724820266, ss3966823332	NC_000009.12:128624098::A	NC_000009.12:128624086:AAAAAAAAAAA… NC_000009.12:128624086:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA	(self)
ss80781043	NT_008470.19:60550923::A	NC_000009.12:128624086:AAAAAAAAAAA… NC_000009.12:128624086:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA	(self)
ss5195460117	NC_000009.11:131386365::AA	NC_000009.12:128624086:AAAAAAAAAAA… NC_000009.12:128624086:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA	(self)
ss4210043029	NC_000009.12:128624086::AA	NC_000009.12:128624086:AAAAAAAAAAA… NC_000009.12:128624086:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA	(self)
10991690799	NC_000009.12:128624086:AAAAAAAAAAA… NC_000009.12:128624086:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA	NC_000009.12:128624086:AAAAAAAAAAA… NC_000009.12:128624086:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA	(self)
ss3724820265	NC_000009.12:128624098::AA	NC_000009.12:128624086:AAAAAAAAAAA… NC_000009.12:128624086:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA	(self)
ss4210043030	NC_000009.12:128624086::AAA	NC_000009.12:128624086:AAAAAAAAAAA… NC_000009.12:128624086:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA	(self)
10991690799	NC_000009.12:128624086:AAAAAAAAAAA… NC_000009.12:128624086:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA	NC_000009.12:128624086:AAAAAAAAAAA… NC_000009.12:128624086:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA	(self)
ss4210043031	NC_000009.12:128624086::AAAA	NC_000009.12:128624086:AAAAAAAAAAA… NC_000009.12:128624086:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	(self)
ss4210043032	NC_000009.12:128624086::AAAAA	NC_000009.12:128624086:AAAAAAAAAAA… NC_000009.12:128624086:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	(self)
10991690799	NC_000009.12:128624086:AAAAAAAAAAA… NC_000009.12:128624086:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	NC_000009.12:128624086:AAAAAAAAAAA… NC_000009.12:128624086:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	(self)
ss4210043033	NC_000009.12:128624086::AAAAAA	NC_000009.12:128624086:AAAAAAAAAAA… NC_000009.12:128624086:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	(self)

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

No publications for rs11444346

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.

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dbSNP Short Genetic Variations

Welcome to the Reference SNP (rs) Report

Reference SNP (rs) Report

rs11444346