Canonical Allele Identifier: CA2115208185

Gene: ERCC5 BIVM-ERCC5

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.102856454_102856455delinsAT , CM000675.2:g.102856454_102856455delinsAT	GRCh38
NC_000013.10:g.103508804_103508805delinsAT , CM000675.1:g.103508804_103508805delinsAT	GRCh37
NC_000013.9:g.102306805_102306806delinsAT	NCBI36
NG_007146.1:g.15631_15632delinsAT , LRG_464:g.15631_15632delinsAT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682632.1:n.769+342_769+343delinsAT (ERCC5)
ENST00000682869.1:n.1177+342_1177+343delinsAT (ERCC5)
ENST00000683246.1:n.1305+342_1305+343delinsAT (ERCC5)
ENST00000684184.1:n.1174+342_1174+343delinsAT (ERCC5)
ENST00000639132.1:c.1203+342_1203+343delinsAT (BIVM-ERCC5)	ENSP00000492684.1:n.1203+342_1203+343delinsAT
ENST00000639435.1:c.1890+342_1890+343delinsAT (BIVM-ERCC5)	ENSP00000491742.1:n.1890+342_1890+343delinsAT
ENST00000651002.1:c.*289+342_*289+343delinsAT (ERCC5)	ENSP00000498809.1:n.*289+342_*289+343delinsAT
ENST00000651055.1:n.657+342_657+343delinsAT (ERCC5)
ENST00000651281.1:n.896+342_896+343delinsAT (ERCC5)
ENST00000651470.1:c.528+342_528+343delinsAT (ERCC5)	ENSP00000498701.1:n.528+342_528+343delinsAT
ENST00000652225.2:c.528+342_528+343delinsAT (ERCC5) MANE Select	ENSP00000498881.2:n.528+342_528+343delinsAT
ENST00000652613.1:c.24+342_24+343delinsAT (ERCC5)	ENSP00000498357.1:n.24+342_24+343delinsAT
ENST00000355739.8:c.528+342_528+343delinsAT (ERCC5)	ENSP00000347978.4:n.528+342_528+343delinsAT
ENST00000535557.5:c.528+342_528+343delinsAT (ERCC5)	ENSP00000442117.1:n.528+342_528+343delinsAT
ENST00000602836.1:c.1804+342_1804+343delinsAT (BIVM-ERCC5)
ENST00000610537.4:c.528+342_528+343delinsAT (ERCC5)	ENSP00000478667.1:n.528+342_528+343delinsAT
NM_000123.3:c.528+342_528+343delinsAT , LRG_464t1:c.528+342_528+343delinsAT (ERCC5)	NP_000114.2:n.528+342_528+343delinsAT
NM_001204425.1:c.1890+342_1890+343delinsAT (BIVM-ERCC5)	NP_001191354.1:n.1890+342_1890+343delinsAT
NM_000123.4:c.528+342_528+343delinsAT (ERCC5) MANE Select	NP_000114.3:n.528+342_528+343delinsAT
NM_001204425.2:c.1890+342_1890+343delinsAT (BIVM-ERCC5)	NP_001191354.2:n.1890+342_1890+343delinsAT