Canonical Allele Identifier: CA2115208112
Gene: ERCC5 HGNC NCBI
BIVM-ERCC5 HGNC NCBI

Linked Data

dbSNP Id: rs891730880

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.102856294_102856295insTT , CM000675.2:g.102856294_102856295insTT GRCh38
NC_000013.10:g.103508644_103508645insTT , CM000675.1:g.103508644_103508645insTT GRCh37
NC_000013.9:g.102306645_102306646insTT NCBI36
NG_007146.1:g.15471_15472insTT , LRG_464:g.15471_15472insTT

Transcript Alleles

HGVS Amino-acid Change
ENST00000682632.1:n.769+182_769+183insTT (ERCC5)
ENST00000682869.1:n.1177+182_1177+183insTT (ERCC5)
ENST00000683246.1:n.1305+182_1305+183insTT (ERCC5)
ENST00000684184.1:n.1174+182_1174+183insTT (ERCC5)
ENST00000639132.1:c.1203+182_1203+183insTT (BIVM-ERCC5) ENSP00000492684.1:n.1203+182_1203+183insTT
ENST00000639435.1:c.1890+182_1890+183insTT (BIVM-ERCC5) ENSP00000491742.1:n.1890+182_1890+183insTT
ENST00000651002.1:c.*289+182_*289+183insTT (ERCC5) ENSP00000498809.1:n.*289+182_*289+183insTT
ENST00000651055.1:n.657+182_657+183insTT (ERCC5)
ENST00000651281.1:n.896+182_896+183insTT (ERCC5)
ENST00000651470.1:c.528+182_528+183insTT (ERCC5) ENSP00000498701.1:n.528+182_528+183insTT
ENST00000652225.2:c.528+182_528+183insTT (ERCC5) MANE Select ENSP00000498881.2:n.528+182_528+183insTT
ENST00000652613.1:c.24+182_24+183insTT (ERCC5) ENSP00000498357.1:n.24+182_24+183insTT
ENST00000355739.8:c.528+182_528+183insTT (ERCC5) ENSP00000347978.4:n.528+182_528+183insTT
ENST00000535557.5:c.528+182_528+183insTT (ERCC5) ENSP00000442117.1:n.528+182_528+183insTT
ENST00000602836.1:c.1804+182_1804+183insTT (BIVM-ERCC5)
ENST00000610537.4:c.528+182_528+183insTT (ERCC5) ENSP00000478667.1:n.528+182_528+183insTT
NM_000123.3:c.528+182_528+183insTT , LRG_464t1:c.528+182_528+183insTT (ERCC5) NP_000114.2:n.528+182_528+183insTT
NM_001204425.1:c.1890+182_1890+183insTT (BIVM-ERCC5) NP_001191354.1:n.1890+182_1890+183insTT
NM_000123.4:c.528+182_528+183insTT (ERCC5) MANE Select NP_000114.3:n.528+182_528+183insTT
NM_001204425.2:c.1890+182_1890+183insTT (BIVM-ERCC5) NP_001191354.2:n.1890+182_1890+183insTT