Canonical Allele Identifier: CA694374594

Gene: BIVM-ERCC5 ERCC5

Linked Data

• dbSNP Id: rs1248291483
• gnomAD v3: 13-102845705-CAAGT-C
• gnomAD v4: 13-102845705-CAAGT-C
• MyVariant Identifiers: chr13:g.103498056_103498059del (hg19) ; chr13:g.102845706_102845709del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.102845708_102845711del , CM000675.2:g.102845708_102845711del	GRCh38
NC_000013.10:g.103498058_103498061del , CM000675.1:g.103498058_103498061del	GRCh37
NC_000013.9:g.102296059_102296062del	NCBI36
NG_007146.1:g.4885_4888del , LRG_464:g.4885_4888del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000638434.1:c.363-8049_363-8046del (BIVM-ERCC5)
ENST00000639118.1:c.363-3410_363-3407del (BIVM-ERCC5)
ENST00000639132.1:c.763+5905_763+5908del (BIVM-ERCC5)	ENSP00000492684.1:n.763+5905_763+5908del
ENST00000639435.1:c.1450+5905_1450+5908del (BIVM-ERCC5)	ENSP00000491742.1:n.1450+5905_1450+5908del
ENST00000355739.8:c.-559_-556del (ERCC5)	ENSP00000347978.4:n.-559_-556del
ENST00000602836.1:c.1364+5905_1364+5908del (BIVM-ERCC5)
NM_001204425.1:c.1450+5905_1450+5908del (BIVM-ERCC5)	NP_001191354.1:n.1450+5905_1450+5908del
NM_001204425.2:c.1450+5905_1450+5908del (BIVM-ERCC5)	NP_001191354.2:n.1450+5905_1450+5908del