Canonical Allele Identifier: CA1879979858
Gene: ENG HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.127815036_127815039delinsTTGG , CM000671.2:g.127815036_127815039delinsTTGG GRCh38
NC_000009.11:g.130577315_130577318delinsTTGG , CM000671.1:g.130577315_130577318delinsTTGG GRCh37
NC_000009.10:g.129617136_129617139delinsTTGG NCBI36
NG_009551.1:g.44730_44733delinsCCAA , LRG_589:g.44730_44733delinsCCAA
NG_023245.1:g.17162_17165delinsTTGG

Transcript Alleles

HGVS Amino-acid Change
ENST00000480266.6:c.*643_*646delinsCCAA ENSP00000479015.1:n.*643_*646delinsCCAA
ENST00000373203.9:c.*643_*646delinsCCAA MANE Select ENSP00000362299.4:n.*643_*646delinsCCAA
ENST00000344849.4:c.*878_*881delinsCCAA ENSP00000341917.3:n.*878_*881delinsCCAA
ENST00000373203.8:c.*643_*646delinsCCAA ENSP00000362299.4:n.*643_*646delinsCCAA
ENST00000480266.5:c.*643_*646delinsCCAA ENSP00000479015.1:n.*643_*646delinsCCAA
NM_000118.3:c.*878_*881delinsCCAA , LRG_589t1:c.*878_*881delinsCCAA NP_000109.1:n.*878_*881delinsCCAA
NM_001114753.2:c.*643_*646delinsCCAA , LRG_589t2:c.*643_*646delinsCCAA NP_001108225.1:n.*643_*646delinsCCAA
NM_001278138.1:c.*643_*646delinsCCAA NP_001265067.1:n.*643_*646delinsCCAA
NM_001114753.3:c.*643_*646delinsCCAA MANE Select NP_001108225.1:n.*643_*646delinsCCAA
NM_001278138.2:c.*643_*646delinsCCAA NP_001265067.1:n.*643_*646delinsCCAA