Canonical Allele Identifier: CA1879981326
Gene: ENG HGNC NCBI

Linked Data

dbSNP Id: rs1830292995

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.127815763del , CM000671.2:g.127815763del GRCh38
NC_000009.11:g.130578042del , CM000671.1:g.130578042del GRCh37
NC_000009.10:g.129617863del NCBI36
NG_009551.1:g.44007del , LRG_589:g.44007del
NG_023245.1:g.17889del

Transcript Alleles

HGVS Amino-acid Change
ENST00000480266.6:c.1351del ENSP00000479015.1:p.Ala451ProfsTer?
ENST00000373203.9:c.1897del MANE Select ENSP00000362299.4:p.Ala633ProfsTer?
ENST00000344849.4:c.*155del ENSP00000341917.3:n.*155del
ENST00000373203.8:c.1897del ENSP00000362299.4:p.Ala633ProfsTer?
ENST00000480266.5:c.1351del ENSP00000479015.1:p.Ala451ProfsTer?
NM_000118.3:c.*155del , LRG_589t1:c.*155del NP_000109.1:n.*155del
NM_001114753.2:c.1897del , LRG_589t2:c.1897del NP_001108225.1:p.Ala633ProfsTer?
NM_001278138.1:c.1351del NP_001265067.1:p.Ala451ProfsTer?
NM_001114753.3:c.1897del MANE Select NP_001108225.1:p.Ala633ProfsTer?
NM_001278138.2:c.1351del NP_001265067.1:p.Ala451ProfsTer?