Canonical Allele Identifier: CA2840996455
Gene: ENG HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.127826501del , CM000671.2:g.127826501del GRCh38
NC_000009.11:g.130588780del , CM000671.1:g.130588780del GRCh37
NC_000009.10:g.129628601del NCBI36
NG_009551.1:g.33271del , LRG_589:g.33271del

Transcript Alleles

HGVS Amino-acid Change
ENST00000480266.6:c.-24+12del ENSP00000479015.1:n.-24+12del
ENST00000373203.9:c.523+12del MANE Select ENSP00000362299.4:n.523+12del
ENST00000344849.4:c.523+12del ENSP00000341917.3:n.523+12del
ENST00000373203.8:c.523+12del ENSP00000362299.4:n.523+12del
ENST00000462196.1:n.423+12del
ENST00000480266.5:c.-24+12del ENSP00000479015.1:n.-24+12del
NM_000118.3:c.523+12del , LRG_589t1:c.523+12del NP_000109.1:n.523+12del
NM_001114753.2:c.523+12del , LRG_589t2:c.523+12del NP_001108225.1:n.523+12del
NM_001278138.1:c.-24+12del NP_001265067.1:n.-24+12del
XR_001746952.2:n.82+1043del
NM_001114753.3:c.523+12del MANE Select NP_001108225.1:n.523+12del
NM_001278138.2:c.-24+12del NP_001265067.1:n.-24+12del