Canonical Allele Identifier: CA1879980285
Gene: ENG HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.127815283_127815286delinsTCTC , CM000671.2:g.127815283_127815286delinsTCTC GRCh38
NC_000009.11:g.130577562_130577565delinsTCTC , CM000671.1:g.130577562_130577565delinsTCTC GRCh37
NC_000009.10:g.129617383_129617386delinsTCTC NCBI36
NG_009551.1:g.44483_44486delinsGAGA , LRG_589:g.44483_44486delinsGAGA
NG_023245.1:g.17409_17412delinsTCTC

Transcript Alleles

HGVS Amino-acid Change
ENST00000480266.6:c.*396_*399delinsGAGA ENSP00000479015.1:n.*396_*399delinsGAGA
ENST00000373203.9:c.*396_*399delinsGAGA MANE Select ENSP00000362299.4:n.*396_*399delinsGAGA
ENST00000344849.4:c.*631_*634delinsGAGA ENSP00000341917.3:n.*631_*634delinsGAGA
ENST00000373203.8:c.*396_*399delinsGAGA ENSP00000362299.4:n.*396_*399delinsGAGA
ENST00000480266.5:c.*396_*399delinsGAGA ENSP00000479015.1:n.*396_*399delinsGAGA
NM_000118.3:c.*631_*634delinsGAGA , LRG_589t1:c.*631_*634delinsGAGA NP_000109.1:n.*631_*634delinsGAGA
NM_001114753.2:c.*396_*399delinsGAGA , LRG_589t2:c.*396_*399delinsGAGA NP_001108225.1:n.*396_*399delinsGAGA
NM_001278138.1:c.*396_*399delinsGAGA NP_001265067.1:n.*396_*399delinsGAGA
NM_001114753.3:c.*396_*399delinsGAGA MANE Select NP_001108225.1:n.*396_*399delinsGAGA
NM_001278138.2:c.*396_*399delinsGAGA NP_001265067.1:n.*396_*399delinsGAGA