Canonical Allele Identifier: CA1879986254
Gene: ENG HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.127818330_127818334delinsGCTGT , CM000671.2:g.127818330_127818334delinsGCTGT GRCh38
NC_000009.11:g.130580609_130580613delinsGCTGT , CM000671.1:g.130580609_130580613delinsGCTGT GRCh37
NC_000009.10:g.129620430_129620434delinsGCTGT NCBI36
NG_009551.1:g.41435_41439delinsACAGC , LRG_589:g.41435_41439delinsACAGC

Transcript Alleles

HGVS Amino-acid Change
ENST00000480266.6:c.926_930delinsACAGC ENSP00000479015.1:p.Asp309=
ENST00000373203.9:c.1472_1476delinsACAGC MANE Select ENSP00000362299.4:p.Asp491=
ENST00000344849.4:c.1472_1476delinsACAGC ENSP00000341917.3:p.Asp491=
ENST00000373203.8:c.1472_1476delinsACAGC ENSP00000362299.4:p.Asp491=
ENST00000480266.5:c.926_930delinsACAGC ENSP00000479015.1:p.Asp309=
NM_000118.3:c.1472_1476delinsACAGC , LRG_589t1:c.1472_1476delinsACAGC NP_000109.1:p.Asp491=
NM_001114753.2:c.1472_1476delinsACAGC , LRG_589t2:c.1472_1476delinsACAGC NP_001108225.1:p.Asp491=
NM_001278138.1:c.926_930delinsACAGC NP_001265067.1:p.Asp309=
NR_136302.1:n.1397_1401delinsGCTGT
NM_001114753.3:c.1472_1476delinsACAGC MANE Select NP_001108225.1:p.Asp491=
NM_001278138.2:c.926_930delinsACAGC NP_001265067.1:p.Asp309=