Canonical Allele Identifier: CA2695211270
Gene: ENG HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.127824915dup , CM000671.2:g.127824915dup GRCh38
NC_000009.11:g.130587194dup , CM000671.1:g.130587194dup GRCh37
NC_000009.10:g.129627015dup NCBI36
NG_009551.1:g.34856dup , LRG_589:g.34856dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000480266.6:c.332dup ENSP00000479015.1:p.Asp112ArgfsTer?
ENST00000373203.9:c.878dup MANE Select ENSP00000362299.4:p.Asp294ArgfsTer?
ENST00000344849.4:c.878dup ENSP00000341917.3:p.Asp294ArgfsTer?
ENST00000373203.8:c.878dup ENSP00000362299.4:p.Asp294ArgfsTer?
ENST00000480266.5:c.332dup ENSP00000479015.1:p.Asp112ArgfsTer?
NM_000118.3:c.878dup , LRG_589t1:c.878dup NP_000109.1:p.Asp294ArgfsTer?
NM_001114753.2:c.878dup , LRG_589t2:c.878dup NP_001108225.1:p.Asp294ArgfsTer?
NM_001278138.1:c.332dup NP_001265067.1:p.Asp112ArgfsTer?
NM_001114753.3:c.878dup MANE Select NP_001108225.1:p.Asp294ArgfsTer?
NM_001278138.2:c.332dup NP_001265067.1:p.Asp112ArgfsTer?