Canonical Allele Identifier: CA7041192

Gene: ERCC5 BIVM-ERCC5

Linked Data

• dbSNP Id: rs758441339
• ExAC: 13:103508474 AT / A
• gnomAD v2: 13-103508474-AT-A
• gnomAD v4: 13-102856124-AT-A
• MyVariant Identifiers: chr13:g.103508475del (hg19) ; chr13:g.102856125del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.102856129del , CM000675.2:g.102856129del	GRCh38
NC_000013.10:g.103508479del , CM000675.1:g.103508479del	GRCh37
NC_000013.9:g.102306480del	NCBI36
NG_007146.1:g.15306del , LRG_464:g.15306del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682632.1:n.769+17del (ERCC5)
ENST00000682869.1:n.1177+17del (ERCC5)
ENST00000683246.1:n.1305+17del (ERCC5)
ENST00000684184.1:n.1174+17del (ERCC5)
ENST00000639132.1:c.1203+17del (BIVM-ERCC5)	ENSP00000492684.1:n.1203+17del
ENST00000639435.1:c.1890+17del (BIVM-ERCC5)	ENSP00000491742.1:n.1890+17del
ENST00000651002.1:c.*289+17del (ERCC5)	ENSP00000498809.1:n.*289+17del
ENST00000651055.1:n.657+17del (ERCC5)
ENST00000651281.1:n.896+17del (ERCC5)
ENST00000651470.1:c.528+17del (ERCC5)	ENSP00000498701.1:n.528+17del
ENST00000652225.2:c.528+17del (ERCC5) MANE Select	ENSP00000498881.2:n.528+17del
ENST00000652613.1:c.24+17del (ERCC5)	ENSP00000498357.1:n.24+17del
ENST00000355739.8:c.528+17del (ERCC5)	ENSP00000347978.4:n.528+17del
ENST00000535557.5:c.528+17del (ERCC5)	ENSP00000442117.1:n.528+17del
ENST00000602836.1:c.1804+17del (BIVM-ERCC5)
ENST00000610537.4:c.528+17del (ERCC5)	ENSP00000478667.1:n.528+17del
NM_000123.3:c.528+17del , LRG_464t1:c.528+17del (ERCC5)	NP_000114.2:n.528+17del
NM_001204425.1:c.1890+17del (BIVM-ERCC5)	NP_001191354.1:n.1890+17del
NM_000123.4:c.528+17del (ERCC5) MANE Select	NP_000114.3:n.528+17del
NM_001204425.2:c.1890+17del (BIVM-ERCC5)	NP_001191354.2:n.1890+17del