Canonical Allele Identifier: CA1879980069

Gene: ENG

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.127815167_127815180delinsCTCTGGGCTCCCAG , CM000671.2:g.127815167_127815180delinsCTCTGGGCTCCCAG	GRCh38
NC_000009.11:g.130577446_130577459delinsCTCTGGGCTCCCAG , CM000671.1:g.130577446_130577459delinsCTCTGGGCTCCCAG	GRCh37
NC_000009.10:g.129617267_129617280delinsCTCTGGGCTCCCAG	NCBI36
NG_009551.1:g.44589_44602delinsCTGGGAGCCCAGAG , LRG_589:g.44589_44602delinsCTGGGAGCCCAGAG
NG_023245.1:g.17293_17306delinsCTCTGGGCTCCCAG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000480266.6:c.*502_*515delinsCTGGGAGCCCAGAG	ENSP00000479015.1:n.*502_*515delinsCTGGGAGCCCAGAG
ENST00000373203.9:c.*502_*515delinsCTGGGAGCCCAGAG MANE Select	ENSP00000362299.4:n.*502_*515delinsCTGGGAGCCCAGAG
ENST00000344849.4:c.*737_*750delinsCTGGGAGCCCAGAG	ENSP00000341917.3:n.*737_*750delinsCTGGGAGCCCAGAG
ENST00000373203.8:c.*502_*515delinsCTGGGAGCCCAGAG	ENSP00000362299.4:n.*502_*515delinsCTGGGAGCCCAGAG
ENST00000480266.5:c.*502_*515delinsCTGGGAGCCCAGAG	ENSP00000479015.1:n.*502_*515delinsCTGGGAGCCCAGAG
NM_000118.3:c.*737_*750delinsCTGGGAGCCCAGAG , LRG_589t1:c.*737_*750delinsCTGGGAGCCCAGAG	NP_000109.1:n.*737_*750delinsCTGGGAGCCCAGAG
NM_001114753.2:c.*502_*515delinsCTGGGAGCCCAGAG , LRG_589t2:c.*502_*515delinsCTGGGAGCCCAGAG	NP_001108225.1:n.*502_*515delinsCTGGGAGCCCAGAG
NM_001278138.1:c.*502_*515delinsCTGGGAGCCCAGAG	NP_001265067.1:n.*502_*515delinsCTGGGAGCCCAGAG
NM_001114753.3:c.*502_*515delinsCTGGGAGCCCAGAG MANE Select	NP_001108225.1:n.*502_*515delinsCTGGGAGCCCAGAG
NM_001278138.2:c.*502_*515delinsCTGGGAGCCCAGAG	NP_001265067.1:n.*502_*515delinsCTGGGAGCCCAGAG