Canonical Allele Identifier: CA2691809078
Gene: ENG HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.127825347_127825352dup , CM000671.2:g.127825347_127825352dup GRCh38
NC_000009.11:g.130587626_130587631dup , CM000671.1:g.130587626_130587631dup GRCh37
NC_000009.10:g.129627447_129627452dup NCBI36
NG_009551.1:g.34417_34422dup , LRG_589:g.34417_34422dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000480266.6:c.149_154dup ENSP00000479015.1:p.Thr51_Val52insGlyThr
ENST00000373203.9:c.695_700dup MANE Select ENSP00000362299.4:p.Thr233_Val234insGlyThr
ENST00000344849.4:c.695_700dup ENSP00000341917.3:p.Thr233_Val234insGlyThr
ENST00000373203.8:c.695_700dup ENSP00000362299.4:p.Thr233_Val234insGlyThr
ENST00000480266.5:c.149_154dup ENSP00000479015.1:p.Thr51_Val52insGlyThr
NM_000118.3:c.695_700dup , LRG_589t1:c.695_700dup NP_000109.1:p.Thr233_Val234insGlyThr
NM_001114753.2:c.695_700dup , LRG_589t2:c.695_700dup NP_001108225.1:p.Thr233_Val234insGlyThr
NM_001278138.1:c.149_154dup NP_001265067.1:p.Thr51_Val52insGlyThr
NM_001114753.3:c.695_700dup MANE Select NP_001108225.1:p.Thr233_Val234insGlyThr
NM_001278138.2:c.149_154dup NP_001265067.1:p.Thr51_Val52insGlyThr