Canonical Allele Identifier: CA1879980070

Gene: ENG

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.127815168_127815181delinsTCTGGGCTCCCAGG , CM000671.2:g.127815168_127815181delinsTCTGGGCTCCCAGG	GRCh38
NC_000009.11:g.130577447_130577460delinsTCTGGGCTCCCAGG , CM000671.1:g.130577447_130577460delinsTCTGGGCTCCCAGG	GRCh37
NC_000009.10:g.129617268_129617281delinsTCTGGGCTCCCAGG	NCBI36
NG_009551.1:g.44588_44601delinsCCTGGGAGCCCAGA , LRG_589:g.44588_44601delinsCCTGGGAGCCCAGA
NG_023245.1:g.17294_17307delinsTCTGGGCTCCCAGG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000480266.6:c.*501_*514delinsCCTGGGAGCCCAGA	ENSP00000479015.1:n.*501_*514delinsCCTGGGAGCCCAGA
ENST00000373203.9:c.*501_*514delinsCCTGGGAGCCCAGA MANE Select	ENSP00000362299.4:n.*501_*514delinsCCTGGGAGCCCAGA
ENST00000344849.4:c.*736_*749delinsCCTGGGAGCCCAGA	ENSP00000341917.3:n.*736_*749delinsCCTGGGAGCCCAGA
ENST00000373203.8:c.*501_*514delinsCCTGGGAGCCCAGA	ENSP00000362299.4:n.*501_*514delinsCCTGGGAGCCCAGA
ENST00000480266.5:c.*501_*514delinsCCTGGGAGCCCAGA	ENSP00000479015.1:n.*501_*514delinsCCTGGGAGCCCAGA
NM_000118.3:c.*736_*749delinsCCTGGGAGCCCAGA , LRG_589t1:c.*736_*749delinsCCTGGGAGCCCAGA	NP_000109.1:n.*736_*749delinsCCTGGGAGCCCAGA
NM_001114753.2:c.*501_*514delinsCCTGGGAGCCCAGA , LRG_589t2:c.*501_*514delinsCCTGGGAGCCCAGA	NP_001108225.1:n.*501_*514delinsCCTGGGAGCCCAGA
NM_001278138.1:c.*501_*514delinsCCTGGGAGCCCAGA	NP_001265067.1:n.*501_*514delinsCCTGGGAGCCCAGA
NM_001114753.3:c.*501_*514delinsCCTGGGAGCCCAGA MANE Select	NP_001108225.1:n.*501_*514delinsCCTGGGAGCCCAGA
NM_001278138.2:c.*501_*514delinsCCTGGGAGCCCAGA	NP_001265067.1:n.*501_*514delinsCCTGGGAGCCCAGA