Canonical Allele Identifier: CA9488539
Gene: XRCC1 HGNC NCBI

Linked Data

dbSNP Id: rs775826265
ExAC: 19:44055791 TC / T
gnomAD v2: 19-44055791-TC-T
gnomAD v4: 19-43551639-TC-T
MyVariant Identifiers: chr19:g.44055792del (hg19) chr19:g.43551641del (hg38) chr19:g.43551640del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.43551642del , CM000681.2:g.43551642del GRCh38
NC_000019.9:g.44055794del , CM000681.1:g.44055794del GRCh37
NC_000019.8:g.48747634del NCBI36
NG_033799.1:g.28939del , LRG_784:g.28939del

Transcript Alleles

HGVS Amino-acid Change
ENST00000262887.10:c.1130del MANE Select ENSP00000262887.5:p.Gly377GlufsTer?
ENST00000262887.9:c.1130del ENSP00000262887.4:p.Gly377GlufsTer?
ENST00000543982.5:c.1037del ENSP00000443671.1:p.Gly346GlufsTer?
ENST00000597811.5:c.740del
NM_006297.2:c.1130del , LRG_784t1:c.1130del NP_006288.2:p.Gly377GlufsTer?
NM_006297.3:c.1130del MANE Select NP_006288.2:p.Gly377GlufsTer?
Search 100 bp 5'
Search 100 bp 3'