Canonical Allele Identifier: CA645293878
Gene: ENG HGNC NCBI

Linked Data

ClinVar Variation Id: 426043
dbSNP Id: rs1085307432

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.127818810del , CM000671.2:g.127818810del GRCh38
NC_000009.11:g.130581089del , CM000671.1:g.130581089del GRCh37
NC_000009.10:g.129620910del NCBI36
NG_009551.1:g.40959del , LRG_589:g.40959del

Transcript Alleles

HGVS Amino-acid change
ENST00000480266.6:c.788del ENSP00000479015.1:p.Met263ArgfsTer?
ENST00000373203.9:c.1334del MANE Select ENSP00000362299.4:p.Met445ArgfsTer?
ENST00000344849.4:c.1334del ENSP00000341917.3:p.Met445ArgfsTer?
ENST00000373203.8:c.1334del ENSP00000362299.4:p.Met445ArgfsTer?
ENST00000480266.5:c.788del ENSP00000479015.1:p.Met263ArgfsTer?
NM_000118.3:c.1334del , LRG_589t1:c.1334del NP_000109.1:p.Met445ArgfsTer?
NM_001114753.2:c.1334del , LRG_589t2:c.1334del NP_001108225.1:p.Met445ArgfsTer?
NM_001278138.1:c.788del NP_001265067.1:p.Met263ArgfsTer?
NR_136302.1:n.1568+99del
NM_001114753.3:c.1334del MANE Select NP_001108225.1:p.Met445ArgfsTer?
NM_001278138.2:c.788del NP_001265067.1:p.Met263ArgfsTer?