Canonical Allele Identifier: CA1879980072
Gene: ENG HGNC NCBI

Linked Data

dbSNP Id: rs1830274080

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.127815168_127815180del , CM000671.2:g.127815168_127815180del GRCh38
NC_000009.11:g.130577447_130577459del , CM000671.1:g.130577447_130577459del GRCh37
NC_000009.10:g.129617268_129617280del NCBI36
NG_009551.1:g.44589_44601del , LRG_589:g.44589_44601del
NG_023245.1:g.17294_17306del

Transcript Alleles

HGVS Amino-acid Change
ENST00000480266.6:c.*502_*514del ENSP00000479015.1:n.*502_*514del
ENST00000373203.9:c.*502_*514del MANE Select ENSP00000362299.4:n.*502_*514del
ENST00000344849.4:c.*737_*749del ENSP00000341917.3:n.*737_*749del
ENST00000373203.8:c.*502_*514del ENSP00000362299.4:n.*502_*514del
ENST00000480266.5:c.*502_*514del ENSP00000479015.1:n.*502_*514del
NM_000118.3:c.*737_*749del , LRG_589t1:c.*737_*749del NP_000109.1:n.*737_*749del
NM_001114753.2:c.*502_*514del , LRG_589t2:c.*502_*514del NP_001108225.1:n.*502_*514del
NM_001278138.1:c.*502_*514del NP_001265067.1:n.*502_*514del
NM_001114753.3:c.*502_*514del MANE Select NP_001108225.1:n.*502_*514del
NM_001278138.2:c.*502_*514del NP_001265067.1:n.*502_*514del