Canonical Allele Identifier: CA2580087052

Gene: ERCC5 BIVM-ERCC5

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.102872294del , CM000675.2:g.102872294del	GRCh38
NC_000013.10:g.103524644del , CM000675.1:g.103524644del	GRCh37
NC_000013.9:g.102322645del	NCBI36
NG_007146.1:g.31471del , LRG_464:g.31471del

Transcript Alleles

HGVS	Amino-acid Change
NM_000123.4:c.2775del (ERCC5) MANE Select	NP_000114.3:p.Gly926AlafsTer?
ENST00000652225.2:c.2775del (ERCC5) MANE Select	ENSP00000498881.2:p.Gly926AlafsTer?
NM_000123.3:c.2775del , LRG_464t1:c.2775del (ERCC5)	NP_000114.2:p.Gly926AlafsTer?
NM_001204425.1:c.4137del (BIVM-ERCC5)	NP_001191354.1:p.Gly1380AlafsTer?
NM_001204425.2:c.4137del (BIVM-ERCC5)	NP_001191354.2:p.Gly1380AlafsTer?
ENST00000355739.8:c.2775del (ERCC5)	ENSP00000347978.4:p.Gly926AlafsTer?
ENST00000375954.1:c.474del (ERCC5)	ENSP00000365121.1:p.Gly159AlafsTer?
ENST00000602836.1:c.4051del (BIVM-ERCC5)
ENST00000610537.4:c.2772del (ERCC5)	ENSP00000478667.1:p.Gly925AlafsTer?
ENST00000639132.1:c.3450del (BIVM-ERCC5)	ENSP00000492684.1:p.Gly1151AlafsTer?
ENST00000639435.1:c.4137del (BIVM-ERCC5)	ENSP00000491742.1:p.Gly1380AlafsTer?
ENST00000651002.1:c.*2536del (ERCC5)	ENSP00000498809.1:n.*2536del
ENST00000651055.1:n.2904del (ERCC5)
ENST00000651281.1:n.3143del (ERCC5)
ENST00000651387.1:n.2259del (ERCC5)
ENST00000651470.1:c.2679-17del (ERCC5)	ENSP00000498701.1:n.2679-17del
ENST00000652613.1:c.2271del (ERCC5)	ENSP00000498357.1:p.Gly758AlafsTer?
ENST00000682632.1:n.3016del (ERCC5)
ENST00000682869.1:n.3424del (ERCC5)
ENST00000683246.1:n.3552del (ERCC5)
ENST00000683642.1:n.2145del (ERCC5)