Canonical Allele Identifier: CA2623613447

Gene: ERCC5 BIVM-ERCC5

Linked Data

• gnomAD v4: 13-102846000-C-CT

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.102846000_102846001insT , CM000675.2:g.102846000_102846001insT	GRCh38
NC_000013.10:g.103498350_103498351insT , CM000675.1:g.103498350_103498351insT	GRCh37
NC_000013.9:g.102296351_102296352insT	NCBI36
NG_007146.1:g.5177_5178insT , LRG_464:g.5177_5178insT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000683246.1:n.96_97insT (ERCC5)
ENST00000638434.1:c.363-7757_363-7756insT (BIVM-ERCC5)
ENST00000639118.1:c.363-3118_363-3117insT (BIVM-ERCC5)
ENST00000639132.1:c.764-6118_764-6117insT (BIVM-ERCC5)	ENSP00000492684.1:n.764-6118_764-6117insT
ENST00000639435.1:c.1451-6118_1451-6117insT (BIVM-ERCC5)	ENSP00000491742.1:n.1451-6118_1451-6117insT
ENST00000651002.1:c.-267_-266insT (ERCC5)	ENSP00000498809.1:n.-267_-266insT
ENST00000652613.1:c.-764_-763insT (ERCC5)	ENSP00000498357.1:n.-764_-763insT
ENST00000355739.8:c.-267_-266insT (ERCC5)	ENSP00000347978.4:n.-267_-266insT
ENST00000535557.5:c.-267_-266insT (ERCC5)	ENSP00000442117.1:n.-267_-266insT
ENST00000602836.1:c.1365-6118_1365-6117insT (BIVM-ERCC5)
NM_000123.3:c.-267_-266insT , LRG_464t1:c.-267_-266insT (ERCC5)	NP_000114.2:n.-267_-266insT
NM_001204425.1:c.1451-6118_1451-6117insT (BIVM-ERCC5)	NP_001191354.1:n.1451-6118_1451-6117insT
NM_001204425.2:c.1451-6118_1451-6117insT (BIVM-ERCC5)	NP_001191354.2:n.1451-6118_1451-6117insT