Canonical Allele Identifier: CA257534

Gene: ERCC5 BIVM-ERCC5

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.102862264_102862267del , CM000675.2:g.102862264_102862267del	GRCh38
NC_000013.10:g.103514614_103514617del , CM000675.1:g.103514614_103514617del	GRCh37
NC_000013.9:g.102312615_102312618del	NCBI36
NG_007146.1:g.21441_21444del , LRG_464:g.21441_21444del

Transcript Alleles

HGVS	Amino-acid Change
NM_000123.4:c.1115_1118del (ERCC5) MANE Select	NP_000114.3:p.Arg372ThrfsTer6
ENST00000652225.2:c.1115_1118del (ERCC5) MANE Select	ENSP00000498881.2:p.Arg372ThrfsTer6
NM_000123.3:c.1115_1118del , LRG_464t1:c.1115_1118del (ERCC5)	NP_000114.2:p.Arg372ThrfsTer6
NM_001204425.1:c.2477_2480del (BIVM-ERCC5)	NP_001191354.1:p.Arg826ThrfsTer6
NM_001204425.2:c.2477_2480del (BIVM-ERCC5)	NP_001191354.2:p.Arg826ThrfsTer6
ENST00000355739.8:c.1115_1118del (ERCC5)	ENSP00000347978.4:p.Arg372ThrfsTer6
ENST00000602836.1:c.2391_2394del (BIVM-ERCC5)
ENST00000610537.4:c.1115_1118del (ERCC5)	ENSP00000478667.1:p.Arg372ThrfsTer6
ENST00000639132.1:c.1790_1793del (BIVM-ERCC5)	ENSP00000492684.1:p.Arg597ThrfsTer6
ENST00000639435.1:c.2477_2480del (BIVM-ERCC5)	ENSP00000491742.1:p.Arg826ThrfsTer6
ENST00000651002.1:c.*876_*879del (ERCC5)	ENSP00000498809.1:n.*876_*879del
ENST00000651055.1:n.1244_1247del (ERCC5)
ENST00000651281.1:n.1483_1486del (ERCC5)
ENST00000651387.1:n.599_602del (ERCC5)
ENST00000651470.1:c.1115_1118del (ERCC5)	ENSP00000498701.1:p.Arg372ThrfsTer6
ENST00000652613.1:c.611_614del (ERCC5)	ENSP00000498357.1:p.Arg204ThrfsTer6
ENST00000682632.1:n.1356_1359del (ERCC5)
ENST00000682869.1:n.1764_1767del (ERCC5)
ENST00000683246.1:n.1892_1895del (ERCC5)