Canonical Allele Identifier: CA1879989687
Gene: ENG HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.127819933_127819934delinsGC , CM000671.2:g.127819933_127819934delinsGC GRCh38
NC_000009.11:g.130582212_130582213delinsGC , CM000671.1:g.130582212_130582213delinsGC GRCh37
NC_000009.10:g.129622033_129622034delinsGC NCBI36
NG_009551.1:g.39835_39836delinsGC , LRG_589:g.39835_39836delinsGC

Transcript Alleles

HGVS Amino-acid Change
ENST00000480266.6:c.692_693delinsGC ENSP00000479015.1:p.Gly231=
ENST00000373203.9:c.1238_1239delinsGC MANE Select ENSP00000362299.4:p.Gly413=
ENST00000344849.4:c.1238_1239delinsGC ENSP00000341917.3:p.Gly413=
ENST00000373203.8:c.1238_1239delinsGC ENSP00000362299.4:p.Gly413=
ENST00000480266.5:c.692_693delinsGC ENSP00000479015.1:p.Gly231=
ENST00000486329.1:n.206_207delinsGC
NM_000118.3:c.1238_1239delinsGC , LRG_589t1:c.1238_1239delinsGC NP_000109.1:p.Gly413=
NM_001114753.2:c.1238_1239delinsGC , LRG_589t2:c.1238_1239delinsGC NP_001108225.1:p.Gly413=
NM_001278138.1:c.692_693delinsGC NP_001265067.1:p.Gly231=
NR_136302.1:n.1568+1222_1568+1223delinsGC
NM_001114753.3:c.1238_1239delinsGC MANE Select NP_001108225.1:p.Gly413=
NM_001278138.2:c.692_693delinsGC NP_001265067.1:p.Gly231=