Canonical Allele Identifier: CA2115215343

Gene: ERCC5 BIVM-ERCC5

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.102873304_102873306delinsATC , CM000675.2:g.102873304_102873306delinsATC	GRCh38
NC_000013.10:g.103525654_103525656delinsATC , CM000675.1:g.103525654_103525656delinsATC	GRCh37
NC_000013.9:g.102323655_102323657delinsATC	NCBI36
NG_007146.1:g.32481_32483delinsATC , LRG_464:g.32481_32483delinsATC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682632.1:n.4026_4028delinsATC (ERCC5)
ENST00000682869.1:n.3574_3576delinsATC (ERCC5)
ENST00000683246.1:n.4562_4564delinsATC (ERCC5)
ENST00000683642.1:n.3155_3157delinsATC (ERCC5)
ENST00000639132.1:c.3600_3602delinsATC (BIVM-ERCC5)	ENSP00000492684.1:p.Glu1200=
ENST00000639435.1:c.4287_4289delinsATC (BIVM-ERCC5)	ENSP00000491742.1:p.Glu1429=
ENST00000651002.1:c.*2686_*2688delinsATC (ERCC5)	ENSP00000498809.1:n.*2686_*2688delinsATC
ENST00000651055.1:n.3052_3054delinsATC (ERCC5)
ENST00000651281.1:n.3293_3295delinsATC (ERCC5)
ENST00000651387.1:n.2409_2411delinsATC (ERCC5)
ENST00000651470.1:c.*97_*99delinsATC (ERCC5)	ENSP00000498701.1:n.*97_*99delinsATC
ENST00000652225.2:c.2925_2927delinsATC (ERCC5) MANE Select	ENSP00000498881.2:p.Glu975=
ENST00000652613.1:c.2421_2423delinsATC (ERCC5)	ENSP00000498357.1:p.Glu807=
ENST00000355739.8:c.2925_2927delinsATC (ERCC5)	ENSP00000347978.4:p.Glu975=
ENST00000375954.1:c.624_626delinsATC (ERCC5)	ENSP00000365121.1:p.Glu208=
ENST00000610537.4:c.2922_2924delinsATC (ERCC5)	ENSP00000478667.1:p.Glu974=
NM_000123.3:c.2925_2927delinsATC , LRG_464t1:c.2925_2927delinsATC (ERCC5)	NP_000114.2:p.Glu975=
NM_001204425.1:c.4287_4289delinsATC (BIVM-ERCC5)	NP_001191354.1:p.Glu1429=
NM_000123.4:c.2925_2927delinsATC (ERCC5) MANE Select	NP_000114.3:p.Glu975=
NM_001204425.2:c.4287_4289delinsATC (BIVM-ERCC5)	NP_001191354.2:p.Glu1429=