Canonical Allele Identifier: CA1879981658

Gene: ENG

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.127815894_127815898delinsGTGGA , CM000671.2:g.127815894_127815898delinsGTGGA	GRCh38
NC_000009.11:g.130578173_130578177delinsGTGGA , CM000671.1:g.130578173_130578177delinsGTGGA	GRCh37
NC_000009.10:g.129617994_129617998delinsGTGGA	NCBI36
NG_009551.1:g.43871_43875delinsTCCAC , LRG_589:g.43871_43875delinsTCCAC
NG_023245.1:g.18020_18024delinsGTGGA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000480266.6:c.1306+45_1306+49delinsTCCAC	ENSP00000479015.1:n.1306+45_1306+49delinsTCCAC
ENST00000373203.9:c.1852+45_1852+49delinsTCCAC MANE Select	ENSP00000362299.4:n.1852+45_1852+49delinsTCCAC
ENST00000344849.4:c.*19_*23delinsTCCAC	ENSP00000341917.3:n.*19_*23delinsTCCAC
ENST00000373203.8:c.1852+45_1852+49delinsTCCAC	ENSP00000362299.4:n.1852+45_1852+49delinsTCCAC
ENST00000480266.5:c.1306+45_1306+49delinsTCCAC	ENSP00000479015.1:n.1306+45_1306+49delinsTCCAC
NM_000118.3:c.*19_*23delinsTCCAC , LRG_589t1:c.*19_*23delinsTCCAC	NP_000109.1:n.*19_*23delinsTCCAC
NM_001114753.2:c.1852+45_1852+49delinsTCCAC , LRG_589t2:c.1852+45_1852+49delinsTCCAC	NP_001108225.1:n.1852+45_1852+49delinsTCCAC
NM_001278138.1:c.1306+45_1306+49delinsTCCAC	NP_001265067.1:n.1306+45_1306+49delinsTCCAC
NM_001114753.3:c.1852+45_1852+49delinsTCCAC MANE Select	NP_001108225.1:n.1852+45_1852+49delinsTCCAC
NM_001278138.2:c.1306+45_1306+49delinsTCCAC	NP_001265067.1:n.1306+45_1306+49delinsTCCAC