Canonical Allele Identifier: CA7041719

Gene: ERCC5 BIVM-ERCC5

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.102872224dup , CM000675.2:g.102872224dup	GRCh38
NC_000013.10:g.103524574dup , CM000675.1:g.103524574dup	GRCh37
NC_000013.9:g.102322575dup	NCBI36
NG_007146.1:g.31401dup , LRG_464:g.31401dup

Transcript Alleles

HGVS	Amino-acid Change
NM_000123.4:c.2705dup (ERCC5) MANE Select	NP_000114.3:p.Asn902LysfsTer7
ENST00000652225.2:c.2705dup (ERCC5) MANE Select	ENSP00000498881.2:p.Asn902LysfsTer7
NM_000123.3:c.2705dup , LRG_464t1:c.2705dup (ERCC5)	NP_000114.2:p.Asn902LysfsTer7
NM_001204425.1:c.4067dup (BIVM-ERCC5)	NP_001191354.1:p.Asn1356LysfsTer7
NM_001204425.2:c.4067dup (BIVM-ERCC5)	NP_001191354.2:p.Asn1356LysfsTer7
ENST00000355739.8:c.2705dup (ERCC5)	ENSP00000347978.4:p.Asn902LysfsTer7
ENST00000375954.1:c.404dup (ERCC5)	ENSP00000365121.1:p.Asn135LysfsTer7
ENST00000602836.1:c.3981dup (BIVM-ERCC5)
ENST00000610537.4:c.2702dup (ERCC5)	ENSP00000478667.1:p.Asn901LysfsTer7
ENST00000639132.1:c.3380dup (BIVM-ERCC5)	ENSP00000492684.1:p.Asn1127LysfsTer7
ENST00000639435.1:c.4067dup (BIVM-ERCC5)	ENSP00000491742.1:p.Asn1356LysfsTer7
ENST00000651002.1:c.*2466dup (ERCC5)	ENSP00000498809.1:n.*2466dup
ENST00000651055.1:n.2834dup (ERCC5)
ENST00000651281.1:n.3073dup (ERCC5)
ENST00000651387.1:n.2189dup (ERCC5)
ENST00000651470.1:c.2679-87dup (ERCC5)	ENSP00000498701.1:n.2679-87dup
ENST00000652613.1:c.2201dup (ERCC5)	ENSP00000498357.1:p.Asn734LysfsTer7
ENST00000682632.1:n.2946dup (ERCC5)
ENST00000682869.1:n.3354dup (ERCC5)
ENST00000683246.1:n.3482dup (ERCC5)
ENST00000683642.1:n.2075dup (ERCC5)