Canonical Allele Identifier: CA2115208179
Gene: ERCC5 HGNC NCBI
BIVM-ERCC5 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.102856441_102856443delinsAAC , CM000675.2:g.102856441_102856443delinsAAC GRCh38
NC_000013.10:g.103508791_103508793delinsAAC , CM000675.1:g.103508791_103508793delinsAAC GRCh37
NC_000013.9:g.102306792_102306794delinsAAC NCBI36
NG_007146.1:g.15618_15620delinsAAC , LRG_464:g.15618_15620delinsAAC

Transcript Alleles

HGVS Amino-acid Change
ENST00000682632.1:n.769+329_769+331delinsAAC (ERCC5)
ENST00000682869.1:n.1177+329_1177+331delinsAAC (ERCC5)
ENST00000683246.1:n.1305+329_1305+331delinsAAC (ERCC5)
ENST00000684184.1:n.1174+329_1174+331delinsAAC (ERCC5)
ENST00000639132.1:c.1203+329_1203+331delinsAAC (BIVM-ERCC5) ENSP00000492684.1:n.1203+329_1203+331delinsAAC
ENST00000639435.1:c.1890+329_1890+331delinsAAC (BIVM-ERCC5) ENSP00000491742.1:n.1890+329_1890+331delinsAAC
ENST00000651002.1:c.*289+329_*289+331delinsAAC (ERCC5) ENSP00000498809.1:n.*289+329_*289+331delinsAAC
ENST00000651055.1:n.657+329_657+331delinsAAC (ERCC5)
ENST00000651281.1:n.896+329_896+331delinsAAC (ERCC5)
ENST00000651470.1:c.528+329_528+331delinsAAC (ERCC5) ENSP00000498701.1:n.528+329_528+331delinsAAC
ENST00000652225.2:c.528+329_528+331delinsAAC (ERCC5) MANE Select ENSP00000498881.2:n.528+329_528+331delinsAAC
ENST00000652613.1:c.24+329_24+331delinsAAC (ERCC5) ENSP00000498357.1:n.24+329_24+331delinsAAC
ENST00000355739.8:c.528+329_528+331delinsAAC (ERCC5) ENSP00000347978.4:n.528+329_528+331delinsAAC
ENST00000535557.5:c.528+329_528+331delinsAAC (ERCC5) ENSP00000442117.1:n.528+329_528+331delinsAAC
ENST00000602836.1:c.1804+329_1804+331delinsAAC (BIVM-ERCC5)
ENST00000610537.4:c.528+329_528+331delinsAAC (ERCC5) ENSP00000478667.1:n.528+329_528+331delinsAAC
NM_000123.3:c.528+329_528+331delinsAAC , LRG_464t1:c.528+329_528+331delinsAAC (ERCC5) NP_000114.2:n.528+329_528+331delinsAAC
NM_001204425.1:c.1890+329_1890+331delinsAAC (BIVM-ERCC5) NP_001191354.1:n.1890+329_1890+331delinsAAC
NM_000123.4:c.528+329_528+331delinsAAC (ERCC5) MANE Select NP_000114.3:n.528+329_528+331delinsAAC
NM_001204425.2:c.1890+329_1890+331delinsAAC (BIVM-ERCC5) NP_001191354.2:n.1890+329_1890+331delinsAAC