Canonical Allele Identifier: CA612077620

Gene: ERCC5 BIVM-ERCC5

Linked Data

• gnomAD v2: 13-103508648-T-TAC
• MyVariant Identifiers: chr13:g.103508648_103508649insAC (hg19) ; chr13:g.102856298_102856299insAC (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.102856299_102856300insCA , CM000675.2:g.102856299_102856300insCA	GRCh38
NC_000013.10:g.103508649_103508650insCA , CM000675.1:g.103508649_103508650insCA	GRCh37
NC_000013.9:g.102306650_102306651insCA	NCBI36
NG_007146.1:g.15476_15477insCA , LRG_464:g.15476_15477insCA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682632.1:n.769+187_769+188insCA (ERCC5)
ENST00000682869.1:n.1177+187_1177+188insCA (ERCC5)
ENST00000683246.1:n.1305+187_1305+188insCA (ERCC5)
ENST00000684184.1:n.1174+187_1174+188insCA (ERCC5)
ENST00000639132.1:c.1203+187_1203+188insCA (BIVM-ERCC5)	ENSP00000492684.1:n.1203+187_1203+188insCA
ENST00000639435.1:c.1890+187_1890+188insCA (BIVM-ERCC5)	ENSP00000491742.1:n.1890+187_1890+188insCA
ENST00000651002.1:c.*289+187_*289+188insCA (ERCC5)	ENSP00000498809.1:n.*289+187_*289+188insCA
ENST00000651055.1:n.657+187_657+188insCA (ERCC5)
ENST00000651281.1:n.896+187_896+188insCA (ERCC5)
ENST00000651470.1:c.528+187_528+188insCA (ERCC5)	ENSP00000498701.1:n.528+187_528+188insCA
ENST00000652225.2:c.528+187_528+188insCA (ERCC5) MANE Select	ENSP00000498881.2:n.528+187_528+188insCA
ENST00000652613.1:c.24+187_24+188insCA (ERCC5)	ENSP00000498357.1:n.24+187_24+188insCA
ENST00000355739.8:c.528+187_528+188insCA (ERCC5)	ENSP00000347978.4:n.528+187_528+188insCA
ENST00000535557.5:c.528+187_528+188insCA (ERCC5)	ENSP00000442117.1:n.528+187_528+188insCA
ENST00000602836.1:c.1804+187_1804+188insCA (BIVM-ERCC5)
ENST00000610537.4:c.528+187_528+188insCA (ERCC5)	ENSP00000478667.1:n.528+187_528+188insCA
NM_000123.3:c.528+187_528+188insCA , LRG_464t1:c.528+187_528+188insCA (ERCC5)	NP_000114.2:n.528+187_528+188insCA
NM_001204425.1:c.1890+187_1890+188insCA (BIVM-ERCC5)	NP_001191354.1:n.1890+187_1890+188insCA
NM_000123.4:c.528+187_528+188insCA (ERCC5) MANE Select	NP_000114.3:n.528+187_528+188insCA
NM_001204425.2:c.1890+187_1890+188insCA (BIVM-ERCC5)	NP_001191354.2:n.1890+187_1890+188insCA