Canonical Allele Identifier: CA2115212638

Gene: ERCC5 BIVM-ERCC5

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.102866799_102866801del , CM000675.2:g.102866799_102866801del	GRCh38
NC_000013.10:g.103519149_103519151del , CM000675.1:g.103519149_103519151del	GRCh37
NC_000013.9:g.102317150_102317152del	NCBI36
NG_007146.1:g.25976_25978del , LRG_464:g.25976_25978del

Transcript Alleles

HGVS	Amino-acid Change
NM_000123.4:c.2487_2489del (ERCC5) MANE Select	NP_000114.3:p.Asn829del
ENST00000652225.2:c.2487_2489del (ERCC5) MANE Select	ENSP00000498881.2:p.Asn829del
NM_000123.3:c.2487_2489del , LRG_464t1:c.2487_2489del (ERCC5)	NP_000114.2:p.Asn829del
NM_001204425.1:c.3849_3851del (BIVM-ERCC5)	NP_001191354.1:p.Asn1283del
NM_001204425.2:c.3849_3851del (BIVM-ERCC5)	NP_001191354.2:p.Asn1283del
ENST00000355739.8:c.2487_2489del (ERCC5)	ENSP00000347978.4:p.Asn829del
ENST00000375954.1:c.186_188del (ERCC5)	ENSP00000365121.1:p.Asn62del
ENST00000481099.1:n.607_609del (ERCC5)
ENST00000602836.1:c.3763_3765del (BIVM-ERCC5)
ENST00000610537.4:c.2487_2489del (ERCC5)	ENSP00000478667.1:p.Asn829del
ENST00000639132.1:c.3162_3164del (BIVM-ERCC5)	ENSP00000492684.1:p.Asn1054del
ENST00000639435.1:c.3849_3851del (BIVM-ERCC5)	ENSP00000491742.1:p.Asn1283del
ENST00000651002.1:c.*2248_*2250del (ERCC5)	ENSP00000498809.1:n.*2248_*2250del
ENST00000651055.1:n.2616_2618del (ERCC5)
ENST00000651281.1:n.2855_2857del (ERCC5)
ENST00000651387.1:n.1971_1973del (ERCC5)
ENST00000651470.1:c.2487_2489del (ERCC5)	ENSP00000498701.1:p.Asn829del
ENST00000652613.1:c.1983_1985del (ERCC5)	ENSP00000498357.1:p.Asn661del
ENST00000682632.1:n.2728_2730del (ERCC5)
ENST00000682869.1:n.3136_3138del (ERCC5)
ENST00000683246.1:n.3264_3266del (ERCC5)