Canonical Allele Identifier: CA2115208148

Gene: ERCC5 BIVM-ERCC5

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.102856365_102856369delinsACAAC , CM000675.2:g.102856365_102856369delinsACAAC	GRCh38
NC_000013.10:g.103508715_103508719delinsACAAC , CM000675.1:g.103508715_103508719delinsACAAC	GRCh37
NC_000013.9:g.102306716_102306720delinsACAAC	NCBI36
NG_007146.1:g.15542_15546delinsACAAC , LRG_464:g.15542_15546delinsACAAC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682632.1:n.769+253_769+257delinsACAAC (ERCC5)
ENST00000682869.1:n.1177+253_1177+257delinsACAAC (ERCC5)
ENST00000683246.1:n.1305+253_1305+257delinsACAAC (ERCC5)
ENST00000684184.1:n.1174+253_1174+257delinsACAAC (ERCC5)
ENST00000639132.1:c.1203+253_1203+257delinsACAAC (BIVM-ERCC5)	ENSP00000492684.1:n.1203+253_1203+257delinsACAAC
ENST00000639435.1:c.1890+253_1890+257delinsACAAC (BIVM-ERCC5)	ENSP00000491742.1:n.1890+253_1890+257delinsACAAC
ENST00000651002.1:c.*289+253_*289+257delinsACAAC (ERCC5)	ENSP00000498809.1:n.*289+253_*289+257delinsACAAC
ENST00000651055.1:n.657+253_657+257delinsACAAC (ERCC5)
ENST00000651281.1:n.896+253_896+257delinsACAAC (ERCC5)
ENST00000651470.1:c.528+253_528+257delinsACAAC (ERCC5)	ENSP00000498701.1:n.528+253_528+257delinsACAAC
ENST00000652225.2:c.528+253_528+257delinsACAAC (ERCC5) MANE Select	ENSP00000498881.2:n.528+253_528+257delinsACAAC
ENST00000652613.1:c.24+253_24+257delinsACAAC (ERCC5)	ENSP00000498357.1:n.24+253_24+257delinsACAAC
ENST00000355739.8:c.528+253_528+257delinsACAAC (ERCC5)	ENSP00000347978.4:n.528+253_528+257delinsACAAC
ENST00000535557.5:c.528+253_528+257delinsACAAC (ERCC5)	ENSP00000442117.1:n.528+253_528+257delinsACAAC
ENST00000602836.1:c.1804+253_1804+257delinsACAAC (BIVM-ERCC5)
ENST00000610537.4:c.528+253_528+257delinsACAAC (ERCC5)	ENSP00000478667.1:n.528+253_528+257delinsACAAC
NM_000123.3:c.528+253_528+257delinsACAAC , LRG_464t1:c.528+253_528+257delinsACAAC (ERCC5)	NP_000114.2:n.528+253_528+257delinsACAAC
NM_001204425.1:c.1890+253_1890+257delinsACAAC (BIVM-ERCC5)	NP_001191354.1:n.1890+253_1890+257delinsACAAC
NM_000123.4:c.528+253_528+257delinsACAAC (ERCC5) MANE Select	NP_000114.3:n.528+253_528+257delinsACAAC
NM_001204425.2:c.1890+253_1890+257delinsACAAC (BIVM-ERCC5)	NP_001191354.2:n.1890+253_1890+257delinsACAAC