Canonical Allele Identifier: CA2695211294
Gene: ENG HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.127825273_127825275delinsT , CM000671.2:g.127825273_127825275delinsT GRCh38
NC_000009.11:g.130587552_130587554delinsT , CM000671.1:g.130587552_130587554delinsT GRCh37
NC_000009.10:g.129627373_129627375delinsT NCBI36
NG_009551.1:g.34494_34496delinsA , LRG_589:g.34494_34496delinsA

Transcript Alleles

HGVS Amino-acid Change
ENST00000480266.6:c.226_228delinsA ENSP00000479015.1:p.Tyr76SerfsTer?
ENST00000373203.9:c.772_774delinsA MANE Select ENSP00000362299.4:p.Tyr258SerfsTer?
ENST00000344849.4:c.772_774delinsA ENSP00000341917.3:p.Tyr258SerfsTer?
ENST00000373203.8:c.772_774delinsA ENSP00000362299.4:p.Tyr258SerfsTer?
ENST00000480266.5:c.226_228delinsA ENSP00000479015.1:p.Tyr76SerfsTer?
NM_000118.3:c.772_774delinsA , LRG_589t1:c.772_774delinsA NP_000109.1:p.Tyr258SerfsTer?
NM_001114753.2:c.772_774delinsA , LRG_589t2:c.772_774delinsA NP_001108225.1:p.Tyr258SerfsTer?
NM_001278138.1:c.226_228delinsA NP_001265067.1:p.Tyr76SerfsTer?
NM_001114753.3:c.772_774delinsA MANE Select NP_001108225.1:p.Tyr258SerfsTer?
NM_001278138.2:c.226_228delinsA NP_001265067.1:p.Tyr76SerfsTer?