Canonical Allele Identifier: CA2115208079

Gene: ERCC5 BIVM-ERCC5

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.102856227_102856229delinsCAG , CM000675.2:g.102856227_102856229delinsCAG	GRCh38
NC_000013.10:g.103508577_103508579delinsCAG , CM000675.1:g.103508577_103508579delinsCAG	GRCh37
NC_000013.9:g.102306578_102306580delinsCAG	NCBI36
NG_007146.1:g.15404_15406delinsCAG , LRG_464:g.15404_15406delinsCAG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682632.1:n.769+115_769+117delinsCAG (ERCC5)
ENST00000682869.1:n.1177+115_1177+117delinsCAG (ERCC5)
ENST00000683246.1:n.1305+115_1305+117delinsCAG (ERCC5)
ENST00000684184.1:n.1174+115_1174+117delinsCAG (ERCC5)
ENST00000639132.1:c.1203+115_1203+117delinsCAG (BIVM-ERCC5)	ENSP00000492684.1:n.1203+115_1203+117delinsCAG
ENST00000639435.1:c.1890+115_1890+117delinsCAG (BIVM-ERCC5)	ENSP00000491742.1:n.1890+115_1890+117delinsCAG
ENST00000651002.1:c.*289+115_*289+117delinsCAG (ERCC5)	ENSP00000498809.1:n.*289+115_*289+117delinsCAG
ENST00000651055.1:n.657+115_657+117delinsCAG (ERCC5)
ENST00000651281.1:n.896+115_896+117delinsCAG (ERCC5)
ENST00000651470.1:c.528+115_528+117delinsCAG (ERCC5)	ENSP00000498701.1:n.528+115_528+117delinsCAG
ENST00000652225.2:c.528+115_528+117delinsCAG (ERCC5) MANE Select	ENSP00000498881.2:n.528+115_528+117delinsCAG
ENST00000652613.1:c.24+115_24+117delinsCAG (ERCC5)	ENSP00000498357.1:n.24+115_24+117delinsCAG
ENST00000355739.8:c.528+115_528+117delinsCAG (ERCC5)	ENSP00000347978.4:n.528+115_528+117delinsCAG
ENST00000535557.5:c.528+115_528+117delinsCAG (ERCC5)	ENSP00000442117.1:n.528+115_528+117delinsCAG
ENST00000602836.1:c.1804+115_1804+117delinsCAG (BIVM-ERCC5)
ENST00000610537.4:c.528+115_528+117delinsCAG (ERCC5)	ENSP00000478667.1:n.528+115_528+117delinsCAG
NM_000123.3:c.528+115_528+117delinsCAG , LRG_464t1:c.528+115_528+117delinsCAG (ERCC5)	NP_000114.2:n.528+115_528+117delinsCAG
NM_001204425.1:c.1890+115_1890+117delinsCAG (BIVM-ERCC5)	NP_001191354.1:n.1890+115_1890+117delinsCAG
NM_000123.4:c.528+115_528+117delinsCAG (ERCC5) MANE Select	NP_000114.3:n.528+115_528+117delinsCAG
NM_001204425.2:c.1890+115_1890+117delinsCAG (BIVM-ERCC5)	NP_001191354.2:n.1890+115_1890+117delinsCAG