Canonical Allele Identifier: CA694374786

Gene: ERCC5 BIVM-ERCC5

Linked Data

• dbSNP Id: rs1245562901
• gnomAD v3: 13-102845953-GC-G
• gnomAD v4: 13-102845953-GC-G
• MyVariant Identifiers: chr13:g.103498304del (hg19) ; chr13:g.102845954del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.102845954del , CM000675.2:g.102845954del	GRCh38
NC_000013.10:g.103498304del , CM000675.1:g.103498304del	GRCh37
NC_000013.9:g.102296305del	NCBI36
NG_007146.1:g.5131del , LRG_464:g.5131del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000683246.1:n.50del (ERCC5)
ENST00000638434.1:c.363-7803del (BIVM-ERCC5)
ENST00000639118.1:c.363-3164del (BIVM-ERCC5)
ENST00000639132.1:c.763+6151del (BIVM-ERCC5)	ENSP00000492684.1:n.763+6151del
ENST00000639435.1:c.1450+6151del (BIVM-ERCC5)	ENSP00000491742.1:n.1450+6151del
ENST00000651002.1:c.-313del (ERCC5)	ENSP00000498809.1:n.-313del
ENST00000652613.1:c.-810del (ERCC5)	ENSP00000498357.1:n.-810del
ENST00000355739.8:c.-313del (ERCC5)	ENSP00000347978.4:n.-313del
ENST00000535557.5:c.-313del (ERCC5)	ENSP00000442117.1:n.-313del
ENST00000602836.1:c.1364+6151del (BIVM-ERCC5)
NM_000123.3:c.-313del , LRG_464t1:c.-313del (ERCC5)	NP_000114.2:n.-313del
NM_001204425.1:c.1450+6151del (BIVM-ERCC5)	NP_001191354.1:n.1450+6151del
NM_001204425.2:c.1450+6151del (BIVM-ERCC5)	NP_001191354.2:n.1450+6151del