Canonical Allele Identifier: CA2573331834
Gene: ENG HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.127824958_127824960del , CM000671.2:g.127824958_127824960del GRCh38
NC_000009.11:g.130587237_130587239del , CM000671.1:g.130587237_130587239del GRCh37
NC_000009.10:g.129627058_129627060del NCBI36
NG_009551.1:g.34811_34813del , LRG_589:g.34811_34813del

Transcript Alleles

HGVS Amino-acid Change
ENST00000480266.6:c.287_289del ENSP00000479015.1:p.Ser96del
ENST00000373203.9:c.833_835del MANE Select ENSP00000362299.4:p.Ser278del
ENST00000344849.4:c.833_835del ENSP00000341917.3:p.Ser278del
ENST00000373203.8:c.833_835del ENSP00000362299.4:p.Ser278del
ENST00000480266.5:c.287_289del ENSP00000479015.1:p.Ser96del
NM_000118.3:c.833_835del , LRG_589t1:c.833_835del NP_000109.1:p.Ser278del
NM_001114753.2:c.833_835del , LRG_589t2:c.833_835del NP_001108225.1:p.Ser278del
NM_001278138.1:c.287_289del NP_001265067.1:p.Ser96del
NM_001114753.3:c.833_835del MANE Select NP_001108225.1:p.Ser278del
NM_001278138.2:c.287_289del NP_001265067.1:p.Ser96del