Canonical Allele Identifier: CA2573143989
Gene: ENG HGNC NCBI

Linked Data

dbSNP Id: rs2131886054

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.127824419_127824420del , CM000671.2:g.127824419_127824420del GRCh38
NC_000009.11:g.130586698_130586699del , CM000671.1:g.130586698_130586699del GRCh37
NC_000009.10:g.129626519_129626520del NCBI36
NG_009551.1:g.35349_35350del , LRG_589:g.35349_35350del

Transcript Alleles

HGVS Amino-acid Change
ENST00000480266.6:c.472_473del ENSP00000479015.1:p.Pro158AspfsTer11
ENST00000373203.9:c.1018_1019del MANE Select ENSP00000362299.4:p.Pro340AspfsTer11
ENST00000344849.4:c.1018_1019del ENSP00000341917.3:p.Pro340AspfsTer11
ENST00000373203.8:c.1018_1019del ENSP00000362299.4:p.Pro340AspfsTer11
ENST00000480266.5:c.472_473del ENSP00000479015.1:p.Pro158AspfsTer11
NM_000118.3:c.1018_1019del , LRG_589t1:c.1018_1019del NP_000109.1:p.Pro340AspfsTer11
NM_001114753.2:c.1018_1019del , LRG_589t2:c.1018_1019del NP_001108225.1:p.Pro340AspfsTer11
NM_001278138.1:c.472_473del NP_001265067.1:p.Pro158AspfsTer11
NM_001114753.3:c.1018_1019del MANE Select NP_001108225.1:p.Pro340AspfsTer11
NM_001278138.2:c.472_473del NP_001265067.1:p.Pro158AspfsTer11