Canonical Allele Identifier: CA2115216504

Gene: ERCC5 BIVM-ERCC5

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.102875619_102875620delinsCT , CM000675.2:g.102875619_102875620delinsCT	GRCh38
NC_000013.10:g.103527969_103527970delinsCT , CM000675.1:g.103527969_103527970delinsCT	GRCh37
NC_000013.9:g.102325970_102325971delinsCT	NCBI36
NG_007146.1:g.34796_34797delinsCT , LRG_464:g.34796_34797delinsCT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682632.1:n.4378_4379delinsCT (ERCC5)
ENST00000682869.1:n.3926_3927delinsCT (ERCC5)
ENST00000683246.1:n.4914_4915delinsCT (ERCC5)
ENST00000683642.1:n.3507_3508delinsCT (ERCC5)
ENST00000639132.1:c.3952_3953delinsCT (BIVM-ERCC5)	ENSP00000492684.1:p.Leu1318=
ENST00000639435.1:c.4639_4640delinsCT (BIVM-ERCC5)	ENSP00000491742.1:p.Leu1547=
ENST00000651002.1:c.*3038_*3039delinsCT (ERCC5)	ENSP00000498809.1:n.*3038_*3039delinsCT
ENST00000651055.1:n.3404_3405delinsCT (ERCC5)
ENST00000651281.1:n.3645_3646delinsCT (ERCC5)
ENST00000651387.1:n.2761_2762delinsCT (ERCC5)
ENST00000651470.1:c.*449_*450delinsCT (ERCC5)	ENSP00000498701.1:n.*449_*450delinsCT
ENST00000652225.2:c.3277_3278delinsCT (ERCC5) MANE Select	ENSP00000498881.2:p.Leu1093=
ENST00000652613.1:c.2773_2774delinsCT (ERCC5)	ENSP00000498357.1:p.Leu925=
ENST00000355739.8:c.3277_3278delinsCT (ERCC5)	ENSP00000347978.4:p.Leu1093=
ENST00000375954.1:c.976_977delinsCT (ERCC5)	ENSP00000365121.1:p.Leu326=
ENST00000472247.1:n.437_438delinsCT (ERCC5)
ENST00000610537.4:c.3274_3275delinsCT (ERCC5)	ENSP00000478667.1:p.Leu1092=
NM_000123.3:c.3277_3278delinsCT , LRG_464t1:c.3277_3278delinsCT (ERCC5)	NP_000114.2:p.Leu1093=
NM_001204425.1:c.4639_4640delinsCT (BIVM-ERCC5)	NP_001191354.1:p.Leu1547=
NM_000123.4:c.3277_3278delinsCT (ERCC5) MANE Select	NP_000114.3:p.Leu1093=
NM_001204425.2:c.4639_4640delinsCT (BIVM-ERCC5)	NP_001191354.2:p.Leu1547=