Canonical Allele Identifier: CA996142494

Gene: XRCC1

Linked Data

• dbSNP Id: rs1972579776
• gnomAD v3: 19-43551903-TGA-T
• gnomAD v4: 19-43551903-TGA-T

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.43551914_43551915del , CM000681.2:g.43551914_43551915del	GRCh38
NC_000019.9:g.44056066_44056067del , CM000681.1:g.44056066_44056067del	GRCh37
NC_000019.8:g.48747906_48747907del	NCBI36
NG_033799.1:g.28674_28675del , LRG_784:g.28674_28675del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262887.10:c.1082+112_1082+113del MANE Select	ENSP00000262887.5:n.1082+112_1082+113del
ENST00000262887.9:c.1082+112_1082+113del	ENSP00000262887.4:n.1082+112_1082+113del
ENST00000543982.5:c.989+112_989+113del	ENSP00000443671.1:n.989+112_989+113del
ENST00000597811.5:c.692+112_692+113del
NM_006297.2:c.1082+112_1082+113del , LRG_784t1:c.1082+112_1082+113del	NP_006288.2:n.1082+112_1082+113del
NM_006297.3:c.1082+112_1082+113del MANE Select	NP_006288.2:n.1082+112_1082+113del