Canonical Allele Identifier: CA694374627

Gene: BIVM-ERCC5 ERCC5

Linked Data

• dbSNP Id: rs1340217122
• MyVariant Identifiers: chr13:g.103498090_103498092del (hg19) ; chr13:g.102845740_102845742del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.102845742_102845744del , CM000675.2:g.102845742_102845744del	GRCh38
NC_000013.10:g.103498092_103498094del , CM000675.1:g.103498092_103498094del	GRCh37
NC_000013.9:g.102296093_102296095del	NCBI36
NG_007146.1:g.4919_4921del , LRG_464:g.4919_4921del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000638434.1:c.363-8015_363-8013del (BIVM-ERCC5)
ENST00000639118.1:c.363-3376_363-3374del (BIVM-ERCC5)
ENST00000639132.1:c.763+5939_763+5941del (BIVM-ERCC5)	ENSP00000492684.1:n.763+5939_763+5941del
ENST00000639435.1:c.1450+5939_1450+5941del (BIVM-ERCC5)	ENSP00000491742.1:n.1450+5939_1450+5941del
ENST00000355739.8:c.-525_-523del (ERCC5)	ENSP00000347978.4:n.-525_-523del
ENST00000602836.1:c.1364+5939_1364+5941del (BIVM-ERCC5)
NM_001204425.1:c.1450+5939_1450+5941del (BIVM-ERCC5)	NP_001191354.1:n.1450+5939_1450+5941del
NM_001204425.2:c.1450+5939_1450+5941del (BIVM-ERCC5)	NP_001191354.2:n.1450+5939_1450+5941del