Canonical Allele Identifier: CA2623613992

Gene: ERCC5 BIVM-ERCC5

Linked Data

• gnomAD v4: 13-102846183-CG-C

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.102846187del , CM000675.2:g.102846187del	GRCh38
NC_000013.10:g.103498537del , CM000675.1:g.103498537del	GRCh37
NC_000013.9:g.102296538del	NCBI36
NG_007146.1:g.5364del , LRG_464:g.5364del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682632.1:n.162del (ERCC5)
ENST00000682869.1:n.155del (ERCC5)
ENST00000683246.1:n.283del (ERCC5)
ENST00000684184.1:n.152del (ERCC5)
ENST00000638434.1:c.363-7570del (BIVM-ERCC5)
ENST00000639118.1:c.363-2931del (BIVM-ERCC5)
ENST00000639132.1:c.764-5931del (BIVM-ERCC5)	ENSP00000492684.1:n.764-5931del
ENST00000639435.1:c.1451-5931del (BIVM-ERCC5)	ENSP00000491742.1:n.1451-5931del
ENST00000651002.1:c.-80del (ERCC5)	ENSP00000498809.1:n.-80del
ENST00000652225.2:c.-80del (ERCC5) MANE Select	ENSP00000498881.2:n.-80del
ENST00000652613.1:c.-577del (ERCC5)	ENSP00000498357.1:n.-577del
ENST00000355739.8:c.-80del (ERCC5)	ENSP00000347978.4:n.-80del
ENST00000375958.3:n.76del (ERCC5)
ENST00000472151.1:c.-80del (ERCC5)	ENSP00000436083.1:n.-80del
ENST00000535557.5:c.-80del (ERCC5)	ENSP00000442117.1:n.-80del
ENST00000602836.1:c.1365-5931del (BIVM-ERCC5)
NM_000123.3:c.-80del , LRG_464t1:c.-80del (ERCC5)	NP_000114.2:n.-80del
NM_001204425.1:c.1451-5931del (BIVM-ERCC5)	NP_001191354.1:n.1451-5931del
NM_000123.4:c.-80del (ERCC5) MANE Select	NP_000114.3:n.-80del
NM_001204425.2:c.1451-5931del (BIVM-ERCC5)	NP_001191354.2:n.1451-5931del