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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.

rs1453664830

Current Build 156

Released September 21, 2022

Organism
Homo sapiens
Position
chr11:74906381-74906383 (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
delCTC
Variation Type
Deletion
Frequency
delCTC=0.000004 (1/264690, TOPMED)
delCTC=0.000008 (2/249080, GnomAD_exome)
delCTC=0.000014 (2/140190, GnomAD) (+ 1 more)
delCTC=0.00000 (0/10680, ALFA)
Clinical Significance
Not Reported in ClinVar
Gene : Consequence
XRRA1 : 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 10680 CTC=1.00000 =0.00000 1.0 0.0 0.0 N/A
European Sub 6962 CTC=1.0000 =0.0000 1.0 0.0 0.0 N/A
African Sub 2294 CTC=1.0000 =0.0000 1.0 0.0 0.0 N/A
African Others Sub 84 CTC=1.00 =0.00 1.0 0.0 0.0 N/A
African American Sub 2210 CTC=1.0000 =0.0000 1.0 0.0 0.0 N/A
Asian Sub 108 CTC=1.000 =0.000 1.0 0.0 0.0 N/A
East Asian Sub 84 CTC=1.00 =0.00 1.0 0.0 0.0 N/A
Other Asian Sub 24 CTC=1.00 =0.00 1.0 0.0 0.0 N/A
Latin American 1 Sub 146 CTC=1.000 =0.000 1.0 0.0 0.0 N/A
Latin American 2 Sub 610 CTC=1.000 =0.000 1.0 0.0 0.0 N/A
South Asian Sub 94 CTC=1.00 =0.00 1.0 0.0 0.0 N/A
Other Sub 466 CTC=1.000 =0.000 1.0 0.0 0.0 N/A


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
TopMed Global Study-wide 264690 CTC=0.999996 delCTC=0.000004
gnomAD - Exomes Global Study-wide 249080 CTC=0.999992 delCTC=0.000008
gnomAD - Exomes European Sub 134416 CTC=0.999985 delCTC=0.000015
gnomAD - Exomes Asian Sub 48574 CTC=1.00000 delCTC=0.00000
gnomAD - Exomes American Sub 34502 CTC=1.00000 delCTC=0.00000
gnomAD - Exomes African Sub 15484 CTC=1.00000 delCTC=0.00000
gnomAD - Exomes Ashkenazi Jewish Sub 10058 CTC=1.00000 delCTC=0.00000
gnomAD - Exomes Other Sub 6046 CTC=1.0000 delCTC=0.0000
gnomAD - Genomes Global Study-wide 140190 CTC=0.999986 delCTC=0.000014
gnomAD - Genomes European Sub 75928 CTC=0.99997 delCTC=0.00003
gnomAD - Genomes African Sub 42014 CTC=1.00000 delCTC=0.00000
gnomAD - Genomes American Sub 13644 CTC=1.00000 delCTC=0.00000
gnomAD - Genomes Ashkenazi Jewish Sub 3322 CTC=1.0000 delCTC=0.0000
gnomAD - Genomes East Asian Sub 3128 CTC=1.0000 delCTC=0.0000
gnomAD - Genomes Other Sub 2154 CTC=1.0000 delCTC=0.0000
Allele Frequency Aggregator Total Global 10680 CTC=1.00000 delCTC=0.00000
Allele Frequency Aggregator European Sub 6962 CTC=1.0000 delCTC=0.0000
Allele Frequency Aggregator African Sub 2294 CTC=1.0000 delCTC=0.0000
Allele Frequency Aggregator Latin American 2 Sub 610 CTC=1.000 delCTC=0.000
Allele Frequency Aggregator Other Sub 466 CTC=1.000 delCTC=0.000
Allele Frequency Aggregator Latin American 1 Sub 146 CTC=1.000 delCTC=0.000
Allele Frequency Aggregator Asian Sub 108 CTC=1.000 delCTC=0.000
Allele Frequency Aggregator South Asian Sub 94 CTC=1.00 delCTC=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 11 NC_000011.10:g.74906381_74906383del
GRCh37.p13 chr 11 NC_000011.9:g.74617426_74617428del
Gene: XRRA1, X-ray radiation resistance associated 1 (minus strand)
Molecule type Change Amino acid[Codon] SO Term
XRRA1 transcript variant 22 NM_001378175.1:c.-130_-12…

NM_001378175.1:c.-130_-128=

N/A 5 Prime UTR Variant
XRRA1 transcript variant 13 NM_001378166.1:c.-130_-12…

NM_001378166.1:c.-130_-128=

N/A 5 Prime UTR Variant
XRRA1 transcript variant 14 NM_001378167.1:c.-130_-12…

NM_001378167.1:c.-130_-128=

N/A 5 Prime UTR Variant
XRRA1 transcript variant 21 NM_001378174.1:c.-130_-12…

NM_001378174.1:c.-130_-128=

N/A 5 Prime UTR Variant
XRRA1 transcript variant 16 NM_001378169.1:c.-130_-12…

NM_001378169.1:c.-130_-128=

N/A 5 Prime UTR Variant
XRRA1 transcript variant 12 NM_001378165.1:c.-130_-12…

NM_001378165.1:c.-130_-128=

N/A 5 Prime UTR Variant
XRRA1 transcript variant 23 NM_001378176.1:c.-130_-12…

NM_001378176.1:c.-130_-128=

N/A 5 Prime UTR Variant
XRRA1 transcript variant 4 NM_001378157.1:c.859_861d…

NM_001378157.1:c.859_861del

E [GAG] > [] Coding Sequence Variant
X-ray radiation resistance-associated protein 1 isoform 4 NP_001365086.1:p.Glu287del E (Glu) > () Inframe Deletion
XRRA1 transcript variant 2 NM_001270380.3:c.835_837d…

NM_001270380.3:c.835_837del

E [GAG] > [] Coding Sequence Variant
X-ray radiation resistance-associated protein 1 isoform 2 NP_001257309.1:p.Glu279del E (Glu) > () Inframe Deletion
XRRA1 transcript variant 9 NM_001378162.1:c.136_138d…

NM_001378162.1:c.136_138del

E [GAG] > [] Coding Sequence Variant
X-ray radiation resistance-associated protein 1 isoform 9 NP_001365091.1:p.Glu46del E (Glu) > () Inframe Deletion
XRRA1 transcript variant 1 NM_182969.4:c.835_837del E [GAG] > [] Coding Sequence Variant
X-ray radiation resistance-associated protein 1 isoform 1 NP_892014.1:p.Glu279del E (Glu) > () Inframe Deletion
XRRA1 transcript variant 6 NM_001378159.1:c.859_861d…

NM_001378159.1:c.859_861del

E [GAG] > [] Coding Sequence Variant
X-ray radiation resistance-associated protein 1 isoform 6 NP_001365088.1:p.Glu287del E (Glu) > () Inframe Deletion
XRRA1 transcript variant 5 NM_001378158.1:c.859_861d…

NM_001378158.1:c.859_861del

E [GAG] > [] Coding Sequence Variant
X-ray radiation resistance-associated protein 1 isoform 5 NP_001365087.1:p.Glu287del E (Glu) > () Inframe Deletion
XRRA1 transcript variant 7 NM_001378160.1:c.859_861d…

NM_001378160.1:c.859_861del

E [GAG] > [] Coding Sequence Variant
X-ray radiation resistance-associated protein 1 isoform 7 NP_001365089.1:p.Glu287del E (Glu) > () Inframe Deletion
XRRA1 transcript variant 11 NM_001378164.1:c.136_138d…

NM_001378164.1:c.136_138del

E [GAG] > [] Coding Sequence Variant
X-ray radiation resistance-associated protein 1 isoform 10 NP_001365093.1:p.Glu46del E (Glu) > () Inframe Deletion
XRRA1 transcript variant 8 NM_001378161.1:c.136_138d…

NM_001378161.1:c.136_138del

E [GAG] > [] Coding Sequence Variant
X-ray radiation resistance-associated protein 1 isoform 8 NP_001365090.1:p.Glu46del E (Glu) > () Inframe Deletion
XRRA1 transcript variant 17 NM_001378170.1:c.136_138d…

NM_001378170.1:c.136_138del

E [GAG] > [] Coding Sequence Variant
X-ray radiation resistance-associated protein 1 isoform 14 NP_001365099.1:p.Glu46del E (Glu) > () Inframe Deletion
XRRA1 transcript variant 20 NM_001378173.1:c.136_138d…

NM_001378173.1:c.136_138del

E [GAG] > [] Coding Sequence Variant
X-ray radiation resistance-associated protein 1 isoform 15 NP_001365102.1:p.Glu46del E (Glu) > () Inframe Deletion
XRRA1 transcript variant 3 NM_001270381.3:c.136_138d…

NM_001270381.3:c.136_138del

E [GAG] > [] Coding Sequence Variant
X-ray radiation resistance-associated protein 1 isoform 3 NP_001257310.1:p.Glu46del E (Glu) > () Inframe Deletion
XRRA1 transcript variant 19 NM_001378172.1:c.136_138d…

NM_001378172.1:c.136_138del

E [GAG] > [] Coding Sequence Variant
X-ray radiation resistance-associated protein 1 isoform 15 NP_001365101.1:p.Glu46del E (Glu) > () Inframe Deletion
XRRA1 transcript variant 15 NM_001378168.1:c.136_138d…

NM_001378168.1:c.136_138del

E [GAG] > [] Coding Sequence Variant
X-ray radiation resistance-associated protein 1 isoform 12 NP_001365097.1:p.Glu46del E (Glu) > () Inframe Deletion
XRRA1 transcript variant 18 NM_001378171.1:c.136_138d…

NM_001378171.1:c.136_138del

E [GAG] > [] Coding Sequence Variant
X-ray radiation resistance-associated protein 1 isoform 14 NP_001365100.1:p.Glu46del E (Glu) > () Inframe Deletion
XRRA1 transcript variant 10 NM_001378163.1:c.136_138d…

NM_001378163.1:c.136_138del

E [GAG] > [] Coding Sequence Variant
X-ray radiation resistance-associated protein 1 isoform 10 NP_001365092.1:p.Glu46del E (Glu) > () Inframe Deletion
XRRA1 transcript variant 24 NR_165434.1:n.899_901del N/A Non Coding Transcript Variant
XRRA1 transcript variant 25 NR_165435.1:n. N/A Intron Variant
XRRA1 transcript variant 26 NR_165436.1:n. N/A Intron Variant
XRRA1 transcript variant 27 NR_165437.1:n. N/A Intron Variant
XRRA1 transcript variant 28 NR_165438.1:n. N/A Intron Variant
XRRA1 transcript variant 29 NR_165439.1:n. N/A Intron Variant
XRRA1 transcript variant X35 XM_047426403.1:c.43+14831…

XM_047426403.1:c.43+14831_43+14833del

N/A Intron Variant
XRRA1 transcript variant X1 XM_011544755.2:c.859_861d…

XM_011544755.2:c.859_861del

E [GAG] > [] Coding Sequence Variant
X-ray radiation resistance-associated protein 1 isoform X1 XP_011543057.1:p.Glu287del E (Glu) > () Inframe Deletion
XRRA1 transcript variant X2 XM_011544756.2:c.859_861d…

XM_011544756.2:c.859_861del

E [GAG] > [] Coding Sequence Variant
X-ray radiation resistance-associated protein 1 isoform X2 XP_011543058.1:p.Glu287del E (Glu) > () Inframe Deletion
XRRA1 transcript variant X3 XM_011544757.2:c.859_861d…

XM_011544757.2:c.859_861del

E [GAG] > [] Coding Sequence Variant
X-ray radiation resistance-associated protein 1 isoform X3 XP_011543059.1:p.Glu287del E (Glu) > () Inframe Deletion
XRRA1 transcript variant X4 XM_011544758.2:c.688_690d…

XM_011544758.2:c.688_690del

E [GAG] > [] Coding Sequence Variant
X-ray radiation resistance-associated protein 1 isoform X4 XP_011543060.1:p.Glu230del E (Glu) > () Inframe Deletion
XRRA1 transcript variant X5 XM_011544759.2:c.664_666d…

XM_011544759.2:c.664_666del

E [GAG] > [] Coding Sequence Variant
X-ray radiation resistance-associated protein 1 isoform X5 XP_011543061.1:p.Glu222del E (Glu) > () Inframe Deletion
XRRA1 transcript variant X6 XM_017017221.2:c.859_861d…

XM_017017221.2:c.859_861del

E [GAG] > [] Coding Sequence Variant
X-ray radiation resistance-associated protein 1 isoform X6 XP_016872710.1:p.Glu287del E (Glu) > () Inframe Deletion
XRRA1 transcript variant X7 XM_011544761.2:c.616_618d…

XM_011544761.2:c.616_618del

E [GAG] > [] Coding Sequence Variant
X-ray radiation resistance-associated protein 1 isoform X7 XP_011543063.1:p.Glu206del E (Glu) > () Inframe Deletion
XRRA1 transcript variant X8 XM_011544762.2:c.859_861d…

XM_011544762.2:c.859_861del

E [GAG] > [] Coding Sequence Variant
X-ray radiation resistance-associated protein 1 isoform X8 XP_011543064.1:p.Glu287del E (Glu) > () Inframe Deletion
XRRA1 transcript variant X9 XM_047426382.1:c.835_837d…

XM_047426382.1:c.835_837del

E [GAG] > [] Coding Sequence Variant
X-ray radiation resistance-associated protein 1 isoform X9 XP_047282338.1:p.Glu279del E (Glu) > () Inframe Deletion
XRRA1 transcript variant X10 XM_011544763.3:c.859_861d…

XM_011544763.3:c.859_861del

E [GAG] > [] Coding Sequence Variant
X-ray radiation resistance-associated protein 1 isoform X10 XP_011543065.1:p.Glu287del E (Glu) > () Inframe Deletion
XRRA1 transcript variant X11 XM_047426383.1:c.688_690d…

XM_047426383.1:c.688_690del

E [GAG] > [] Coding Sequence Variant
X-ray radiation resistance-associated protein 1 isoform X11 XP_047282339.1:p.Glu230del E (Glu) > () Inframe Deletion
XRRA1 transcript variant X12 XM_047426384.1:c.688_690d…

XM_047426384.1:c.688_690del

E [GAG] > [] Coding Sequence Variant
X-ray radiation resistance-associated protein 1 isoform X12 XP_047282340.1:p.Glu230del E (Glu) > () Inframe Deletion
XRRA1 transcript variant X13 XM_005273770.3:c.136_138d…

XM_005273770.3:c.136_138del

E [GAG] > [] Coding Sequence Variant
X-ray radiation resistance-associated protein 1 isoform X13 XP_005273827.1:p.Glu46del E (Glu) > () Inframe Deletion
XRRA1 transcript variant X14 XM_017017222.3:c.859_861d…

XM_017017222.3:c.859_861del

E [GAG] > [] Coding Sequence Variant
X-ray radiation resistance-associated protein 1 isoform X14 XP_016872711.1:p.Glu287del E (Glu) > () Inframe Deletion
XRRA1 transcript variant X15 XM_011544765.2:c.136_138d…

XM_011544765.2:c.136_138del

E [GAG] > [] Coding Sequence Variant
X-ray radiation resistance-associated protein 1 isoform X13 XP_011543067.1:p.Glu46del E (Glu) > () Inframe Deletion
XRRA1 transcript variant X16 XM_047426385.1:c.370_372d…

XM_047426385.1:c.370_372del

E [GAG] > [] Coding Sequence Variant
X-ray radiation resistance-associated protein 1 isoform X15 XP_047282341.1:p.Glu124del E (Glu) > () Inframe Deletion
XRRA1 transcript variant X17 XM_047426386.1:c.859_861d…

XM_047426386.1:c.859_861del

E [GAG] > [] Coding Sequence Variant
X-ray radiation resistance-associated protein 1 isoform X16 XP_047282342.1:p.Glu287del E (Glu) > () Inframe Deletion
XRRA1 transcript variant X18 XM_047426387.1:c.616_618d…

XM_047426387.1:c.616_618del

E [GAG] > [] Coding Sequence Variant
X-ray radiation resistance-associated protein 1 isoform X17 XP_047282343.1:p.Glu206del E (Glu) > () Inframe Deletion
XRRA1 transcript variant X19 XM_017017224.3:c.859_861d…

XM_017017224.3:c.859_861del

E [GAG] > [] Coding Sequence Variant
X-ray radiation resistance-associated protein 1 isoform X18 XP_016872713.1:p.Glu287del E (Glu) > () Inframe Deletion
XRRA1 transcript variant X20 XM_047426388.1:c.136_138d…

XM_047426388.1:c.136_138del

E [GAG] > [] Coding Sequence Variant
X-ray radiation resistance-associated protein 1 isoform X13 XP_047282344.1:p.Glu46del E (Glu) > () Inframe Deletion
XRRA1 transcript variant X21 XM_047426389.1:c.370_372d…

XM_047426389.1:c.370_372del

E [GAG] > [] Coding Sequence Variant
X-ray radiation resistance-associated protein 1 isoform X19 XP_047282345.1:p.Glu124del E (Glu) > () Inframe Deletion
XRRA1 transcript variant X22 XM_047426390.1:c.688_690d…

XM_047426390.1:c.688_690del

E [GAG] > [] Coding Sequence Variant
X-ray radiation resistance-associated protein 1 isoform X20 XP_047282346.1:p.Glu230del E (Glu) > () Inframe Deletion
XRRA1 transcript variant X23 XM_047426391.1:c.136_138d…

XM_047426391.1:c.136_138del

E [GAG] > [] Coding Sequence Variant
X-ray radiation resistance-associated protein 1 isoform X21 XP_047282347.1:p.Glu46del E (Glu) > () Inframe Deletion
XRRA1 transcript variant X24 XM_047426392.1:c.136_138d…

XM_047426392.1:c.136_138del

E [GAG] > [] Coding Sequence Variant
X-ray radiation resistance-associated protein 1 isoform X13 XP_047282348.1:p.Glu46del E (Glu) > () Inframe Deletion
XRRA1 transcript variant X25 XM_047426393.1:c.136_138d…

XM_047426393.1:c.136_138del

E [GAG] > [] Coding Sequence Variant
X-ray radiation resistance-associated protein 1 isoform X22 XP_047282349.1:p.Glu46del E (Glu) > () Inframe Deletion
XRRA1 transcript variant X26 XM_047426394.1:c.136_138d…

XM_047426394.1:c.136_138del

E [GAG] > [] Coding Sequence Variant
X-ray radiation resistance-associated protein 1 isoform X23 XP_047282350.1:p.Glu46del E (Glu) > () Inframe Deletion
XRRA1 transcript variant X27 XM_017017228.3:c.136_138d…

XM_017017228.3:c.136_138del

E [GAG] > [] Coding Sequence Variant
X-ray radiation resistance-associated protein 1 isoform X24 XP_016872717.1:p.Glu46del E (Glu) > () Inframe Deletion
XRRA1 transcript variant X28 XM_047426395.1:c.136_138d…

XM_047426395.1:c.136_138del

E [GAG] > [] Coding Sequence Variant
X-ray radiation resistance-associated protein 1 isoform X25 XP_047282351.1:p.Glu46del E (Glu) > () Inframe Deletion
XRRA1 transcript variant X29 XM_047426396.1:c.136_138d…

XM_047426396.1:c.136_138del

E [GAG] > [] Coding Sequence Variant
X-ray radiation resistance-associated protein 1 isoform X25 XP_047282352.1:p.Glu46del E (Glu) > () Inframe Deletion
XRRA1 transcript variant X30 XM_047426397.1:c.136_138d…

XM_047426397.1:c.136_138del

E [GAG] > [] Coding Sequence Variant
X-ray radiation resistance-associated protein 1 isoform X23 XP_047282353.1:p.Glu46del E (Glu) > () Inframe Deletion
XRRA1 transcript variant X31 XM_047426399.1:c.136_138d…

XM_047426399.1:c.136_138del

E [GAG] > [] Coding Sequence Variant
X-ray radiation resistance-associated protein 1 isoform X22 XP_047282355.1:p.Glu46del E (Glu) > () Inframe Deletion
XRRA1 transcript variant X32 XM_047426400.1:c.136_138d…

XM_047426400.1:c.136_138del

E [GAG] > [] Coding Sequence Variant
X-ray radiation resistance-associated protein 1 isoform X26 XP_047282356.1:p.Glu46del E (Glu) > () Inframe Deletion
XRRA1 transcript variant X33 XM_047426401.1:c.136_138d…

XM_047426401.1:c.136_138del

E [GAG] > [] Coding Sequence Variant
X-ray radiation resistance-associated protein 1 isoform X22 XP_047282357.1:p.Glu46del E (Glu) > () Inframe Deletion
XRRA1 transcript variant X34 XM_047426402.1:c.136_138d…

XM_047426402.1:c.136_138del

E [GAG] > [] Coding Sequence Variant
X-ray radiation resistance-associated protein 1 isoform X25 XP_047282358.1:p.Glu46del E (Glu) > () Inframe Deletion
XRRA1 transcript variant X36 XM_047426404.1:c.136_138d…

XM_047426404.1:c.136_138del

E [GAG] > [] Coding Sequence Variant
X-ray radiation resistance-associated protein 1 isoform X25 XP_047282360.1:p.Glu46del E (Glu) > () Inframe Deletion
XRRA1 transcript variant X37 XM_047426405.1:c.136_138d…

XM_047426405.1:c.136_138del

E [GAG] > [] Coding Sequence Variant
X-ray radiation resistance-associated protein 1 isoform X26 XP_047282361.1:p.Glu46del E (Glu) > () Inframe Deletion
XRRA1 transcript variant X38 XM_047426406.1:c.136_138d…

XM_047426406.1:c.136_138del

E [GAG] > [] Coding Sequence Variant
X-ray radiation resistance-associated protein 1 isoform X28 XP_047282362.1:p.Glu46del E (Glu) > () Inframe Deletion
XRRA1 transcript variant X39 XM_047426407.1:c.136_138d…

XM_047426407.1:c.136_138del

E [GAG] > [] Coding Sequence Variant
X-ray radiation resistance-associated protein 1 isoform X28 XP_047282363.1:p.Glu46del E (Glu) > () Inframe Deletion
XRRA1 transcript variant X40 XM_047426408.1:c.136_138d…

XM_047426408.1:c.136_138del

E [GAG] > [] Coding Sequence Variant
X-ray radiation resistance-associated protein 1 isoform X29 XP_047282364.1:p.Glu46del E (Glu) > () Inframe Deletion
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 CTC= delCTC
GRCh38.p14 chr 11 NC_000011.10:g.74906381_74906383= NC_000011.10:g.74906381_74906383del
GRCh37.p13 chr 11 NC_000011.9:g.74617426_74617428= NC_000011.9:g.74617426_74617428del
XRRA1 transcript variant 1 NM_182969.4:c.835_837= NM_182969.4:c.835_837del
XRRA1 transcript variant 1 NM_182969.3:c.835_837= NM_182969.3:c.835_837del
XRRA1 transcript variant 1 NM_182969.2:c.835_837= NM_182969.2:c.835_837del
XRRA1 transcript variant X10 XM_011544763.3:c.859_861= XM_011544763.3:c.859_861del
XRRA1 transcript variant X11 XM_011544763.2:c.859_861= XM_011544763.2:c.859_861del
XRRA1 transcript variant X11 XM_011544763.1:c.859_861= XM_011544763.1:c.859_861del
XRRA1 transcript variant X13 XM_005273770.3:c.136_138= XM_005273770.3:c.136_138del
XRRA1 transcript variant X13 XM_005273770.2:c.136_138= XM_005273770.2:c.136_138del
XRRA1 transcript variant X6 XM_005273770.1:c.136_138= XM_005273770.1:c.136_138del
XRRA1 transcript variant X14 XM_017017222.3:c.859_861= XM_017017222.3:c.859_861del
XRRA1 transcript variant X15 XM_017017222.2:c.859_861= XM_017017222.2:c.859_861del
XRRA1 transcript variant X15 XM_017017222.1:c.859_861= XM_017017222.1:c.859_861del
XRRA1 transcript variant X27 XM_017017228.3:c.136_138= XM_017017228.3:c.136_138del
XRRA1 transcript variant X24 XM_017017228.2:c.136_138= XM_017017228.2:c.136_138del
XRRA1 transcript variant X24 XM_017017228.1:c.136_138= XM_017017228.1:c.136_138del
XRRA1 transcript variant 3 NM_001270381.3:c.136_138= NM_001270381.3:c.136_138del
XRRA1 transcript variant 3 NM_001270381.2:c.136_138= NM_001270381.2:c.136_138del
XRRA1 transcript variant 3 NM_001270381.1:c.136_138= NM_001270381.1:c.136_138del
XRRA1 transcript variant X19 XM_017017224.3:c.859_861= XM_017017224.3:c.859_861del
XRRA1 transcript variant X20 XM_017017224.2:c.859_861= XM_017017224.2:c.859_861del
XRRA1 transcript variant X20 XM_017017224.1:c.859_861= XM_017017224.1:c.859_861del
XRRA1 transcript variant 2 NM_001270380.3:c.835_837= NM_001270380.3:c.835_837del
XRRA1 transcript variant 2 NM_001270380.2:c.835_837= NM_001270380.2:c.835_837del
XRRA1 transcript variant 2 NM_001270380.1:c.835_837= NM_001270380.1:c.835_837del
XRRA1 transcript variant X1 XM_011544755.2:c.859_861= XM_011544755.2:c.859_861del
XRRA1 transcript variant X2 XM_011544755.1:c.859_861= XM_011544755.1:c.859_861del
XRRA1 transcript variant X2 XM_011544756.2:c.859_861= XM_011544756.2:c.859_861del
XRRA1 transcript variant X3 XM_011544756.1:c.859_861= XM_011544756.1:c.859_861del
XRRA1 transcript variant X4 XM_011544758.2:c.688_690= XM_011544758.2:c.688_690del
XRRA1 transcript variant X5 XM_011544758.1:c.688_690= XM_011544758.1:c.688_690del
XRRA1 transcript variant X3 XM_011544757.2:c.859_861= XM_011544757.2:c.859_861del
XRRA1 transcript variant X4 XM_011544757.1:c.859_861= XM_011544757.1:c.859_861del
XRRA1 transcript variant X15 XM_011544765.2:c.136_138= XM_011544765.2:c.136_138del
XRRA1 transcript variant X14 XM_011544765.1:c.136_138= XM_011544765.1:c.136_138del
XRRA1 transcript variant X5 XM_011544759.2:c.664_666= XM_011544759.2:c.664_666del
XRRA1 transcript variant X6 XM_011544759.1:c.664_666= XM_011544759.1:c.664_666del
XRRA1 transcript variant X6 XM_017017221.2:c.859_861= XM_017017221.2:c.859_861del
XRRA1 transcript variant X8 XM_017017221.1:c.859_861= XM_017017221.1:c.859_861del
XRRA1 transcript variant X7 XM_011544761.2:c.616_618= XM_011544761.2:c.616_618del
XRRA1 transcript variant X9 XM_011544761.1:c.616_618= XM_011544761.1:c.616_618del
XRRA1 transcript variant X8 XM_011544762.2:c.859_861= XM_011544762.2:c.859_861del
XRRA1 transcript variant X10 XM_011544762.1:c.859_861= XM_011544762.1:c.859_861del
XRRA1 transcript variant 4 NM_001378157.1:c.859_861= NM_001378157.1:c.859_861del
XRRA1 transcript variant 5 NM_001378158.1:c.859_861= NM_001378158.1:c.859_861del
XRRA1 transcript variant X30 XM_047426397.1:c.136_138= XM_047426397.1:c.136_138del
XRRA1 transcript variant 12 NM_001378165.1:c.-130_-128= NM_001378165.1:c.-130_-128del
XRRA1 transcript variant 8 NM_001378161.1:c.136_138= NM_001378161.1:c.136_138del
XRRA1 transcript variant X17 XM_047426386.1:c.859_861= XM_047426386.1:c.859_861del
XRRA1 transcript variant X9 XM_047426382.1:c.835_837= XM_047426382.1:c.835_837del
XRRA1 transcript variant 13 NM_001378166.1:c.-130_-128= NM_001378166.1:c.-130_-128del
XRRA1 transcript variant 6 NM_001378159.1:c.859_861= NM_001378159.1:c.859_861del
XRRA1 transcript variant X20 XM_047426388.1:c.136_138= XM_047426388.1:c.136_138del
XRRA1 transcript variant 9 NM_001378162.1:c.136_138= NM_001378162.1:c.136_138del
XRRA1 transcript variant 21 NM_001378174.1:c.-130_-128= NM_001378174.1:c.-130_-128del
XRRA1 transcript variant X23 XM_047426391.1:c.136_138= XM_047426391.1:c.136_138del
XRRA1 transcript variant X11 XM_047426383.1:c.688_690= XM_047426383.1:c.688_690del
XRRA1 transcript variant X32 XM_047426400.1:c.136_138= XM_047426400.1:c.136_138del
XRRA1 transcript variant X22 XM_047426390.1:c.688_690= XM_047426390.1:c.688_690del
XRRA1 transcript variant 16 NM_001378169.1:c.-130_-128= NM_001378169.1:c.-130_-128del
XRRA1 transcript variant X24 XM_047426392.1:c.136_138= XM_047426392.1:c.136_138del
XRRA1 transcript variant X25 XM_047426393.1:c.136_138= XM_047426393.1:c.136_138del
XRRA1 transcript variant X12 XM_047426384.1:c.688_690= XM_047426384.1:c.688_690del
XRRA1 transcript variant 10 NM_001378163.1:c.136_138= NM_001378163.1:c.136_138del
XRRA1 transcript variant 7 NM_001378160.1:c.859_861= NM_001378160.1:c.859_861del
XRRA1 transcript variant 11 NM_001378164.1:c.136_138= NM_001378164.1:c.136_138del
XRRA1 transcript variant X26 XM_047426394.1:c.136_138= XM_047426394.1:c.136_138del
XRRA1 transcript variant 17 NM_001378170.1:c.136_138= NM_001378170.1:c.136_138del
XRRA1 transcript variant 22 NM_001378175.1:c.-130_-128= NM_001378175.1:c.-130_-128del
XRRA1 transcript variant X28 XM_047426395.1:c.136_138= XM_047426395.1:c.136_138del
XRRA1 transcript variant X18 XM_047426387.1:c.616_618= XM_047426387.1:c.616_618del
XRRA1 transcript variant X29 XM_047426396.1:c.136_138= XM_047426396.1:c.136_138del
XRRA1 transcript variant 23 NM_001378176.1:c.-130_-128= NM_001378176.1:c.-130_-128del
XRRA1 transcript variant X16 XM_047426385.1:c.370_372= XM_047426385.1:c.370_372del
XRRA1 transcript variant X37 XM_047426405.1:c.136_138= XM_047426405.1:c.136_138del
XRRA1 transcript variant 14 NM_001378167.1:c.-130_-128= NM_001378167.1:c.-130_-128del
XRRA1 transcript variant 24 NR_165434.1:n.899_901= NR_165434.1:n.899_901del
XRRA1 transcript variant X31 XM_047426399.1:c.136_138= XM_047426399.1:c.136_138del
XRRA1 transcript variant 20 NM_001378173.1:c.136_138= NM_001378173.1:c.136_138del
XRRA1 transcript variant 19 NM_001378172.1:c.136_138= NM_001378172.1:c.136_138del
XRRA1 transcript variant X33 XM_047426401.1:c.136_138= XM_047426401.1:c.136_138del
XRRA1 transcript variant X21 XM_047426389.1:c.370_372= XM_047426389.1:c.370_372del
XRRA1 transcript variant X34 XM_047426402.1:c.136_138= XM_047426402.1:c.136_138del
XRRA1 transcript variant X38 XM_047426406.1:c.136_138= XM_047426406.1:c.136_138del
XRRA1 transcript variant X36 XM_047426404.1:c.136_138= XM_047426404.1:c.136_138del
XRRA1 transcript variant 15 NM_001378168.1:c.136_138= NM_001378168.1:c.136_138del
XRRA1 transcript variant X39 XM_047426407.1:c.136_138= XM_047426407.1:c.136_138del
XRRA1 transcript variant X40 XM_047426408.1:c.136_138= XM_047426408.1:c.136_138del
XRRA1 transcript variant 18 NM_001378171.1:c.136_138= NM_001378171.1:c.136_138del
X-ray radiation resistance-associated protein 1 isoform 1 NP_892014.1:p.Glu279= NP_892014.1:p.Glu279del
X-ray radiation resistance-associated protein 1 isoform X10 XP_011543065.1:p.Glu287= XP_011543065.1:p.Glu287del
X-ray radiation resistance-associated protein 1 isoform X13 XP_005273827.1:p.Glu46= XP_005273827.1:p.Glu46del
X-ray radiation resistance-associated protein 1 isoform X14 XP_016872711.1:p.Glu287= XP_016872711.1:p.Glu287del
X-ray radiation resistance-associated protein 1 isoform X24 XP_016872717.1:p.Glu46= XP_016872717.1:p.Glu46del
X-ray radiation resistance-associated protein 1 isoform 3 NP_001257310.1:p.Glu46= NP_001257310.1:p.Glu46del
X-ray radiation resistance-associated protein 1 isoform X18 XP_016872713.1:p.Glu287= XP_016872713.1:p.Glu287del
X-ray radiation resistance-associated protein 1 isoform 2 NP_001257309.1:p.Glu279= NP_001257309.1:p.Glu279del
X-ray radiation resistance-associated protein 1 isoform X1 XP_011543057.1:p.Glu287= XP_011543057.1:p.Glu287del
X-ray radiation resistance-associated protein 1 isoform X2 XP_011543058.1:p.Glu287= XP_011543058.1:p.Glu287del
X-ray radiation resistance-associated protein 1 isoform X4 XP_011543060.1:p.Glu230= XP_011543060.1:p.Glu230del
X-ray radiation resistance-associated protein 1 isoform X3 XP_011543059.1:p.Glu287= XP_011543059.1:p.Glu287del
X-ray radiation resistance-associated protein 1 isoform X13 XP_011543067.1:p.Glu46= XP_011543067.1:p.Glu46del
X-ray radiation resistance-associated protein 1 isoform X5 XP_011543061.1:p.Glu222= XP_011543061.1:p.Glu222del
X-ray radiation resistance-associated protein 1 isoform X6 XP_016872710.1:p.Glu287= XP_016872710.1:p.Glu287del
X-ray radiation resistance-associated protein 1 isoform X7 XP_011543063.1:p.Glu206= XP_011543063.1:p.Glu206del
X-ray radiation resistance-associated protein 1 isoform X8 XP_011543064.1:p.Glu287= XP_011543064.1:p.Glu287del
X-ray radiation resistance-associated protein 1 isoform 4 NP_001365086.1:p.Glu287= NP_001365086.1:p.Glu287del
X-ray radiation resistance-associated protein 1 isoform 5 NP_001365087.1:p.Glu287= NP_001365087.1:p.Glu287del
X-ray radiation resistance-associated protein 1 isoform X23 XP_047282353.1:p.Glu46= XP_047282353.1:p.Glu46del
X-ray radiation resistance-associated protein 1 isoform 8 NP_001365090.1:p.Glu46= NP_001365090.1:p.Glu46del
X-ray radiation resistance-associated protein 1 isoform X16 XP_047282342.1:p.Glu287= XP_047282342.1:p.Glu287del
X-ray radiation resistance-associated protein 1 isoform X9 XP_047282338.1:p.Glu279= XP_047282338.1:p.Glu279del
X-ray radiation resistance-associated protein 1 isoform 6 NP_001365088.1:p.Glu287= NP_001365088.1:p.Glu287del
X-ray radiation resistance-associated protein 1 isoform X13 XP_047282344.1:p.Glu46= XP_047282344.1:p.Glu46del
X-ray radiation resistance-associated protein 1 isoform 9 NP_001365091.1:p.Glu46= NP_001365091.1:p.Glu46del
X-ray radiation resistance-associated protein 1 isoform X21 XP_047282347.1:p.Glu46= XP_047282347.1:p.Glu46del
X-ray radiation resistance-associated protein 1 isoform X11 XP_047282339.1:p.Glu230= XP_047282339.1:p.Glu230del
X-ray radiation resistance-associated protein 1 isoform X26 XP_047282356.1:p.Glu46= XP_047282356.1:p.Glu46del
X-ray radiation resistance-associated protein 1 isoform X20 XP_047282346.1:p.Glu230= XP_047282346.1:p.Glu230del
X-ray radiation resistance-associated protein 1 isoform X13 XP_047282348.1:p.Glu46= XP_047282348.1:p.Glu46del
X-ray radiation resistance-associated protein 1 isoform X22 XP_047282349.1:p.Glu46= XP_047282349.1:p.Glu46del
X-ray radiation resistance-associated protein 1 isoform X12 XP_047282340.1:p.Glu230= XP_047282340.1:p.Glu230del
X-ray radiation resistance-associated protein 1 isoform 10 NP_001365092.1:p.Glu46= NP_001365092.1:p.Glu46del
X-ray radiation resistance-associated protein 1 isoform 7 NP_001365089.1:p.Glu287= NP_001365089.1:p.Glu287del
X-ray radiation resistance-associated protein 1 isoform 10 NP_001365093.1:p.Glu46= NP_001365093.1:p.Glu46del
X-ray radiation resistance-associated protein 1 isoform X23 XP_047282350.1:p.Glu46= XP_047282350.1:p.Glu46del
X-ray radiation resistance-associated protein 1 isoform 14 NP_001365099.1:p.Glu46= NP_001365099.1:p.Glu46del
X-ray radiation resistance-associated protein 1 isoform X25 XP_047282351.1:p.Glu46= XP_047282351.1:p.Glu46del
X-ray radiation resistance-associated protein 1 isoform X17 XP_047282343.1:p.Glu206= XP_047282343.1:p.Glu206del
X-ray radiation resistance-associated protein 1 isoform X25 XP_047282352.1:p.Glu46= XP_047282352.1:p.Glu46del
X-ray radiation resistance-associated protein 1 isoform X15 XP_047282341.1:p.Glu124= XP_047282341.1:p.Glu124del
X-ray radiation resistance-associated protein 1 isoform X26 XP_047282361.1:p.Glu46= XP_047282361.1:p.Glu46del
X-ray radiation resistance-associated protein 1 isoform X22 XP_047282355.1:p.Glu46= XP_047282355.1:p.Glu46del
X-ray radiation resistance-associated protein 1 isoform 15 NP_001365102.1:p.Glu46= NP_001365102.1:p.Glu46del
X-ray radiation resistance-associated protein 1 isoform 15 NP_001365101.1:p.Glu46= NP_001365101.1:p.Glu46del
X-ray radiation resistance-associated protein 1 isoform X22 XP_047282357.1:p.Glu46= XP_047282357.1:p.Glu46del
X-ray radiation resistance-associated protein 1 isoform X19 XP_047282345.1:p.Glu124= XP_047282345.1:p.Glu124del
X-ray radiation resistance-associated protein 1 isoform X25 XP_047282358.1:p.Glu46= XP_047282358.1:p.Glu46del
X-ray radiation resistance-associated protein 1 isoform X28 XP_047282362.1:p.Glu46= XP_047282362.1:p.Glu46del
X-ray radiation resistance-associated protein 1 isoform X25 XP_047282360.1:p.Glu46= XP_047282360.1:p.Glu46del
X-ray radiation resistance-associated protein 1 isoform 12 NP_001365097.1:p.Glu46= NP_001365097.1:p.Glu46del
X-ray radiation resistance-associated protein 1 isoform X28 XP_047282363.1:p.Glu46= XP_047282363.1:p.Glu46del
X-ray radiation resistance-associated protein 1 isoform X29 XP_047282364.1:p.Glu46= XP_047282364.1:p.Glu46del
X-ray radiation resistance-associated protein 1 isoform 14 NP_001365100.1:p.Glu46= NP_001365100.1:p.Glu46del
XRRA1 transcript variant X35 XM_047426403.1:c.43+14833= XM_047426403.1:c.43+14831_43+14833del
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#.

4 SubSNP, 4 Frequency submissions
No Submitter Submission ID Date (Build)
1 GNOMAD ss2739251616 Nov 08, 2017 (151)
2 GNOMAD ss2748697969 Nov 08, 2017 (151)
3 GNOMAD ss2901468572 Nov 08, 2017 (151)
4 TOPMED ss4890718993 Apr 26, 2021 (155)
5 gnomAD - Genomes NC_000011.10 - 74906381 Apr 26, 2021 (155)
6 gnomAD - Exomes NC_000011.9 - 74617426 Jul 13, 2019 (153)
7 TopMed NC_000011.10 - 74906381 Apr 26, 2021 (155)
8 ALFA NC_000011.10 - 74906381 Apr 26, 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
8468166, ss2739251616, ss2748697969, ss2901468572 NC_000011.9:74617425:CTC: NC_000011.10:74906380:CTC: (self)
384331783, 106264649, 1252373720, ss4890718993 NC_000011.10:74906380:CTC: NC_000011.10:74906380:CTC: (self)
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 rs1453664830

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