Canonical Allele Identifier: CA2835493042
Gene: ENG HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.127824670del , CM000671.2:g.127824670del GRCh38
NC_000009.11:g.130586949del , CM000671.1:g.130586949del GRCh37
NC_000009.10:g.129626770del NCBI36
NG_009551.1:g.35099del , LRG_589:g.35099del

Transcript Alleles

HGVS Amino-acid Change
ENST00000480266.6:c.445+130del ENSP00000479015.1:n.445+130del
ENST00000373203.9:c.991+130del MANE Select ENSP00000362299.4:n.991+130del
ENST00000344849.4:c.991+130del ENSP00000341917.3:n.991+130del
ENST00000373203.8:c.991+130del ENSP00000362299.4:n.991+130del
ENST00000480266.5:c.445+130del ENSP00000479015.1:n.445+130del
NM_000118.3:c.991+130del , LRG_589t1:c.991+130del NP_000109.1:n.991+130del
NM_001114753.2:c.991+130del , LRG_589t2:c.991+130del NP_001108225.1:n.991+130del
NM_001278138.1:c.445+130del NP_001265067.1:n.445+130del
NM_001114753.3:c.991+130del MANE Select NP_001108225.1:n.991+130del
NM_001278138.2:c.445+130del NP_001265067.1:n.445+130del