Canonical Allele Identifier: CA2840996458
Gene: ENG HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.127826560dup , CM000671.2:g.127826560dup GRCh38
NC_000009.11:g.130588839dup , CM000671.1:g.130588839dup GRCh37
NC_000009.10:g.129628660dup NCBI36
NG_009551.1:g.33209dup , LRG_589:g.33209dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000480266.6:c.-74dup ENSP00000479015.1:n.-74dup
ENST00000373203.9:c.473dup MANE Select ENSP00000362299.4:p.Ala159CysfsTer3
ENST00000344849.4:c.473dup ENSP00000341917.3:p.Ala159CysfsTer3
ENST00000373203.8:c.473dup ENSP00000362299.4:p.Ala159CysfsTer3
ENST00000462196.1:n.373dup
ENST00000480266.5:c.-74dup ENSP00000479015.1:n.-74dup
NM_000118.3:c.473dup , LRG_589t1:c.473dup NP_000109.1:p.Ala159CysfsTer3
NM_001114753.2:c.473dup , LRG_589t2:c.473dup NP_001108225.1:p.Ala159CysfsTer3
NM_001278138.1:c.-74dup NP_001265067.1:n.-74dup
XR_001746952.2:n.82+1102dup
NM_001114753.3:c.473dup MANE Select NP_001108225.1:p.Ala159CysfsTer3
NM_001278138.2:c.-74dup NP_001265067.1:n.-74dup