Canonical Allele Identifier: CA2691805438
Gene: ENG HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.127815399del , CM000671.2:g.127815399del GRCh38
NC_000009.11:g.130577678del , CM000671.1:g.130577678del GRCh37
NC_000009.10:g.129617499del NCBI36
NG_009551.1:g.44372del , LRG_589:g.44372del
NG_023245.1:g.17525del

Transcript Alleles

HGVS Amino-acid Change
ENST00000480266.6:c.*285del ENSP00000479015.1:n.*285del
ENST00000373203.9:c.*285del MANE Select ENSP00000362299.4:n.*285del
ENST00000344849.4:c.*520del ENSP00000341917.3:n.*520del
ENST00000373203.8:c.*285del ENSP00000362299.4:n.*285del
ENST00000480266.5:c.*285del ENSP00000479015.1:n.*285del
NM_000118.3:c.*520del , LRG_589t1:c.*520del NP_000109.1:n.*520del
NM_001114753.2:c.*285del , LRG_589t2:c.*285del NP_001108225.1:n.*285del
NM_001278138.1:c.*285del NP_001265067.1:n.*285del
NM_001114753.3:c.*285del MANE Select NP_001108225.1:n.*285del
NM_001278138.2:c.*285del NP_001265067.1:n.*285del