Canonical Allele Identifier: CA694374509

Gene: BIVM-ERCC5 ERCC5

Linked Data

• dbSNP Id: rs1299912919
• MyVariant Identifiers: chr13:g.103497879_103497880insCGGGCAGCAGGAGTTC (hg19) ; chr13:g.102845529_102845530insCGGGCAGCAGGAGTTC (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.102845531_102845546dup , CM000675.2:g.102845531_102845546dup	GRCh38
NC_000013.10:g.103497881_103497896dup , CM000675.1:g.103497881_103497896dup	GRCh37
NC_000013.9:g.102295882_102295897dup	NCBI36
NG_007146.1:g.4708_4723dup , LRG_464:g.4708_4723dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000638434.1:c.363-8226_363-8211dup (BIVM-ERCC5)
ENST00000639118.1:c.363-3587_363-3572dup (BIVM-ERCC5)
ENST00000639132.1:c.763+5728_763+5743dup (BIVM-ERCC5)	ENSP00000492684.1:n.763+5728_763+5743dup
ENST00000639435.1:c.1450+5728_1450+5743dup (BIVM-ERCC5)	ENSP00000491742.1:n.1450+5728_1450+5743dup
ENST00000355739.8:c.-736_-721dup (ERCC5)	ENSP00000347978.4:n.-736_-721dup
ENST00000602836.1:c.1364+5728_1364+5743dup (BIVM-ERCC5)
NM_001204425.1:c.1450+5728_1450+5743dup (BIVM-ERCC5)	NP_001191354.1:n.1450+5728_1450+5743dup
NM_001204425.2:c.1450+5728_1450+5743dup (BIVM-ERCC5)	NP_001191354.2:n.1450+5728_1450+5743dup