Canonical Allele Identifier: CA2623612701

Gene: BIVM-ERCC5 ERCC5

Linked Data

• gnomAD v4: 13-102845796-AGCTTCCGCCCT-A

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.102845799_102845809del , CM000675.2:g.102845799_102845809del	GRCh38
NC_000013.10:g.103498149_103498159del , CM000675.1:g.103498149_103498159del	GRCh37
NC_000013.9:g.102296150_102296160del	NCBI36
NG_007146.1:g.4976_4986del , LRG_464:g.4976_4986del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000638434.1:c.363-7958_363-7948del (BIVM-ERCC5)
ENST00000639118.1:c.363-3319_363-3309del (BIVM-ERCC5)
ENST00000639132.1:c.763+5996_763+6006del (BIVM-ERCC5)	ENSP00000492684.1:n.763+5996_763+6006del
ENST00000639435.1:c.1450+5996_1450+6006del (BIVM-ERCC5)	ENSP00000491742.1:n.1450+5996_1450+6006del
ENST00000355739.8:c.-468_-458del (ERCC5)	ENSP00000347978.4:n.-468_-458del
ENST00000602836.1:c.1364+5996_1364+6006del (BIVM-ERCC5)
NM_001204425.1:c.1450+5996_1450+6006del (BIVM-ERCC5)	NP_001191354.1:n.1450+5996_1450+6006del
NM_001204425.2:c.1450+5996_1450+6006del (BIVM-ERCC5)	NP_001191354.2:n.1450+5996_1450+6006del