Canonical Allele Identifier: CA9488548
Gene: XRCC1 HGNC NCBI

Linked Data

ClinVar Variation Id: 781452
ClinVar RCV Id: RCV000962687
dbSNP Id: rs55749951
ExAC: 19:44055844 T / TG
gnomAD v2: 19-44055844-T-TG
gnomAD v3: 19-43551692-T-TG
gnomAD v4: 19-43551692-T-TG
MyVariant Identifiers: chr19:g.44055844_44055845insG (hg19) chr19:g.43551692_43551693insG (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.43551698dup , CM000681.2:g.43551698dup GRCh38
NC_000019.9:g.44055850dup , CM000681.1:g.44055850dup GRCh37
NC_000019.8:g.48747690dup NCBI36
NG_033799.1:g.28886dup , LRG_784:g.28886dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000262887.10:c.1083-6dup MANE Select ENSP00000262887.5:n.1083-6dup
ENST00000262887.9:c.1083-6dup ENSP00000262887.4:n.1083-6dup
ENST00000543982.5:c.990-6dup ENSP00000443671.1:n.990-6dup
ENST00000597811.5:c.693-6dup
NM_006297.2:c.1083-6dup , LRG_784t1:c.1083-6dup NP_006288.2:n.1083-6dup
NM_006297.3:c.1083-6dup MANE Select NP_006288.2:n.1083-6dup
Search 100 bp 5'
Search 100 bp 3'