Canonical Allele Identifier: CA2840996457
Gene: ENG HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.127826529dup , CM000671.2:g.127826529dup GRCh38
NC_000009.11:g.130588808dup , CM000671.1:g.130588808dup GRCh37
NC_000009.10:g.129628629dup NCBI36
NG_009551.1:g.33241dup , LRG_589:g.33241dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000480266.6:c.-42dup ENSP00000479015.1:n.-42dup
ENST00000373203.9:c.505dup MANE Select ENSP00000362299.4:p.Leu169ProfsTer?
ENST00000344849.4:c.505dup ENSP00000341917.3:p.Leu169ProfsTer?
ENST00000373203.8:c.505dup ENSP00000362299.4:p.Leu169ProfsTer?
ENST00000462196.1:n.405dup
ENST00000480266.5:c.-42dup ENSP00000479015.1:n.-42dup
NM_000118.3:c.505dup , LRG_589t1:c.505dup NP_000109.1:p.Leu169ProfsTer?
NM_001114753.2:c.505dup , LRG_589t2:c.505dup NP_001108225.1:p.Leu169ProfsTer?
NM_001278138.1:c.-42dup NP_001265067.1:n.-42dup
XR_001746952.2:n.82+1071dup
NM_001114753.3:c.505dup MANE Select NP_001108225.1:p.Leu169ProfsTer?
NM_001278138.2:c.-42dup NP_001265067.1:n.-42dup