Canonical Allele Identifier: CA255207694

Gene: BIVM-ERCC5 ERCC5

Linked Data

• dbSNP Id: rs374460305
• gnomAD v2: 13-103498123-AT-A
• gnomAD v3: 13-102845773-AT-A
• gnomAD v4: 13-102845773-AT-A
• MyVariant Identifiers: chr13:g.103498124del (hg19) ; chr13:g.102845774del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.102845774del , CM000675.2:g.102845774del	GRCh38
NC_000013.10:g.103498124del , CM000675.1:g.103498124del	GRCh37
NC_000013.9:g.102296125del	NCBI36
NG_007146.1:g.4951del , LRG_464:g.4951del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000638434.1:c.363-7983del (BIVM-ERCC5)
ENST00000639118.1:c.363-3344del (BIVM-ERCC5)
ENST00000639132.1:c.763+5971del (BIVM-ERCC5)	ENSP00000492684.1:n.763+5971del
ENST00000639435.1:c.1450+5971del (BIVM-ERCC5)	ENSP00000491742.1:n.1450+5971del
ENST00000355739.8:c.-493del (ERCC5)	ENSP00000347978.4:n.-493del
ENST00000602836.1:c.1364+5971del (BIVM-ERCC5)
NM_001204425.1:c.1450+5971del (BIVM-ERCC5)	NP_001191354.1:n.1450+5971del
NM_001204425.2:c.1450+5971del (BIVM-ERCC5)	NP_001191354.2:n.1450+5971del