Canonical Allele Identifier: CA2115208149

Gene: ERCC5 BIVM-ERCC5

Linked Data

• dbSNP Id: rs1222058993

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.102856377_102856380dup , CM000675.2:g.102856377_102856380dup	GRCh38
NC_000013.10:g.103508727_103508730dup , CM000675.1:g.103508727_103508730dup	GRCh37
NC_000013.9:g.102306728_102306731dup	NCBI36
NG_007146.1:g.15554_15557dup , LRG_464:g.15554_15557dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682632.1:n.769+265_769+268dup (ERCC5)
ENST00000682869.1:n.1177+265_1177+268dup (ERCC5)
ENST00000683246.1:n.1305+265_1305+268dup (ERCC5)
ENST00000684184.1:n.1174+265_1174+268dup (ERCC5)
ENST00000639132.1:c.1203+265_1203+268dup (BIVM-ERCC5)	ENSP00000492684.1:n.1203+265_1203+268dup
ENST00000639435.1:c.1890+265_1890+268dup (BIVM-ERCC5)	ENSP00000491742.1:n.1890+265_1890+268dup
ENST00000651002.1:c.*289+265_*289+268dup (ERCC5)	ENSP00000498809.1:n.*289+265_*289+268dup
ENST00000651055.1:n.657+265_657+268dup (ERCC5)
ENST00000651281.1:n.896+265_896+268dup (ERCC5)
ENST00000651470.1:c.528+265_528+268dup (ERCC5)	ENSP00000498701.1:n.528+265_528+268dup
ENST00000652225.2:c.528+265_528+268dup (ERCC5) MANE Select	ENSP00000498881.2:n.528+265_528+268dup
ENST00000652613.1:c.24+265_24+268dup (ERCC5)	ENSP00000498357.1:n.24+265_24+268dup
ENST00000355739.8:c.528+265_528+268dup (ERCC5)	ENSP00000347978.4:n.528+265_528+268dup
ENST00000535557.5:c.528+265_528+268dup (ERCC5)	ENSP00000442117.1:n.528+265_528+268dup
ENST00000602836.1:c.1804+265_1804+268dup (BIVM-ERCC5)
ENST00000610537.4:c.528+265_528+268dup (ERCC5)	ENSP00000478667.1:n.528+265_528+268dup
NM_000123.3:c.528+265_528+268dup , LRG_464t1:c.528+265_528+268dup (ERCC5)	NP_000114.2:n.528+265_528+268dup
NM_001204425.1:c.1890+265_1890+268dup (BIVM-ERCC5)	NP_001191354.1:n.1890+265_1890+268dup
NM_000123.4:c.528+265_528+268dup (ERCC5) MANE Select	NP_000114.3:n.528+265_528+268dup
NM_001204425.2:c.1890+265_1890+268dup (BIVM-ERCC5)	NP_001191354.2:n.1890+265_1890+268dup