Canonical Allele Identifier: CA658798033

Gene: ERCC5 BIVM-ERCC5

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.102862322dup , CM000675.2:g.102862322dup	GRCh38
NC_000013.10:g.103514672dup , CM000675.1:g.103514672dup	GRCh37
NC_000013.9:g.102312673dup	NCBI36
NG_007146.1:g.21499dup , LRG_464:g.21499dup

Transcript Alleles

HGVS	Amino-acid Change
NM_000123.4:c.1173dup (ERCC5) MANE Select	NP_000114.3:p.Lys392Ter
ENST00000652225.2:c.1173dup (ERCC5) MANE Select	ENSP00000498881.2:p.Lys392Ter
NM_000123.3:c.1173dup , LRG_464t1:c.1173dup (ERCC5)	NP_000114.2:p.Lys392Ter
NM_001204425.1:c.2535dup (BIVM-ERCC5)	NP_001191354.1:p.Lys846Ter
NM_001204425.2:c.2535dup (BIVM-ERCC5)	NP_001191354.2:p.Lys846Ter
ENST00000355739.8:c.1173dup (ERCC5)	ENSP00000347978.4:p.Lys392Ter
ENST00000602836.1:c.2449dup (BIVM-ERCC5)
ENST00000610537.4:c.1173dup (ERCC5)	ENSP00000478667.1:p.Lys392Ter
ENST00000639132.1:c.1848dup (BIVM-ERCC5)	ENSP00000492684.1:p.Lys617Ter
ENST00000639435.1:c.2535dup (BIVM-ERCC5)	ENSP00000491742.1:p.Lys846Ter
ENST00000651002.1:c.*934dup (ERCC5)	ENSP00000498809.1:n.*934dup
ENST00000651055.1:n.1302dup (ERCC5)
ENST00000651281.1:n.1541dup (ERCC5)
ENST00000651387.1:n.657dup (ERCC5)
ENST00000651470.1:c.1173dup (ERCC5)	ENSP00000498701.1:p.Lys392Ter
ENST00000652613.1:c.669dup (ERCC5)	ENSP00000498357.1:p.Lys224Ter
ENST00000682632.1:n.1414dup (ERCC5)
ENST00000682869.1:n.1822dup (ERCC5)
ENST00000683246.1:n.1950dup (ERCC5)