Canonical Allele Identifier: CA2623614191
Gene: ERCC5 HGNC NCBI
BIVM-ERCC5 HGNC NCBI

Linked Data

gnomAD v4: 13-102846258-AGCC-A
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Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.102846262_102846264del , CM000675.2:g.102846262_102846264del GRCh38
NC_000013.10:g.103498612_103498614del , CM000675.1:g.103498612_103498614del GRCh37
NC_000013.9:g.102296613_102296615del NCBI36
NG_007146.1:g.5439_5441del , LRG_464:g.5439_5441del

Transcript Alleles

HGVS Amino-acid change
ENST00000682632.1:n.237_239del (ERCC5)
ENST00000682869.1:n.230_232del (ERCC5)
ENST00000683246.1:n.358_360del (ERCC5)
ENST00000684184.1:n.227_229del (ERCC5)
ENST00000638434.1:c.363-7495_363-7493del (BIVM-ERCC5)
ENST00000639118.1:c.363-2856_363-2854del (BIVM-ERCC5)
ENST00000639132.1:c.764-5856_764-5854del (BIVM-ERCC5) ENSP00000492684.1:n.764-5856_764-5854del
ENST00000639435.1:c.1451-5856_1451-5854del (BIVM-ERCC5) ENSP00000491742.1:n.1451-5856_1451-5854del
ENST00000651002.1:c.-5_-3del (ERCC5) ENSP00000498809.1:n.-5_-3del
ENST00000651470.1:c.-5_-3del (ERCC5) ENSP00000498701.1:n.-5_-3del
ENST00000652225.2:c.-5_-3del (ERCC5) MANE Select ENSP00000498881.2:n.-5_-3del
ENST00000652613.1:c.-502_-500del (ERCC5) ENSP00000498357.1:n.-502_-500del
ENST00000355739.8:c.-5_-3del (ERCC5) ENSP00000347978.4:n.-5_-3del
ENST00000375958.3:n.151_153del (ERCC5)
ENST00000472151.1:c.-5_-3del (ERCC5) ENSP00000436083.1:n.-5_-3del
ENST00000535557.5:c.-5_-3del (ERCC5) ENSP00000442117.1:n.-5_-3del
ENST00000602836.1:c.1365-5856_1365-5854del (BIVM-ERCC5)
ENST00000610537.4:c.-5_-3del (ERCC5) ENSP00000478667.1:n.-5_-3del
NM_000123.3:c.-5_-3del , LRG_464t1:c.-5_-3del (ERCC5) NP_000114.2:n.-5_-3del
NM_001204425.1:c.1451-5856_1451-5854del (BIVM-ERCC5) NP_001191354.1:n.1451-5856_1451-5854del
NM_000123.4:c.-5_-3del (ERCC5) MANE Select NP_000114.3:n.-5_-3del
NM_001204425.2:c.1451-5856_1451-5854del (BIVM-ERCC5) NP_001191354.2:n.1451-5856_1451-5854del
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