Canonical Allele Identifier: CA16612404
Gene: ENG HGNC NCBI

Linked Data

ClinVar Variation Id: 407118
ClinVar RCV Id: RCV000466746
dbSNP Id: rs1060501413

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.127818818del , CM000671.2:g.127818818del GRCh38
NC_000009.11:g.130581097del , CM000671.1:g.130581097del GRCh37
NC_000009.10:g.129620918del NCBI36
NG_009551.1:g.40952del , LRG_589:g.40952del

Transcript Alleles

HGVS Amino-acid change
ENST00000480266.6:c.781del ENSP00000479015.1:p.Leu261SerfsTer?
ENST00000373203.9:c.1327del MANE Select ENSP00000362299.4:p.Leu443SerfsTer?
ENST00000344849.4:c.1327del ENSP00000341917.3:p.Leu443SerfsTer?
ENST00000373203.8:c.1327del ENSP00000362299.4:p.Leu443SerfsTer?
ENST00000480266.5:c.781del ENSP00000479015.1:p.Leu261SerfsTer?
NM_000118.3:c.1327del , LRG_589t1:c.1327del NP_000109.1:p.Leu443SerfsTer?
NM_001114753.2:c.1327del , LRG_589t2:c.1327del NP_001108225.1:p.Leu443SerfsTer?
NM_001278138.1:c.781del NP_001265067.1:p.Leu261SerfsTer?
NR_136302.1:n.1568+107del
NM_001114753.3:c.1327del MANE Select NP_001108225.1:p.Leu443SerfsTer?
NM_001278138.2:c.781del NP_001265067.1:p.Leu261SerfsTer?