Canonical Allele Identifier: CA16618745
Gene: ENG HGNC NCBI

Linked Data

ClinVar Variation Id: 419980
ClinVar RCV Id: RCV002402392 RCV002526559
dbSNP Id: rs1064794218
MyVariant Identifiers: chr9:g.130580428del (hg19) chr9:g.127818149del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.127818151del , CM000671.2:g.127818151del GRCh38
NC_000009.11:g.130580430del , CM000671.1:g.130580430del GRCh37
NC_000009.10:g.129620251del NCBI36
NG_009551.1:g.41620del , LRG_589:g.41620del

Transcript Alleles

HGVS Amino-acid change
ENST00000480266.6:c.1111del ENSP00000479015.1:p.Leu371CysfsTer20
ENST00000373203.9:c.1657del MANE Select ENSP00000362299.4:p.Leu553CysfsTer20
ENST00000344849.4:c.1657del ENSP00000341917.3:p.Leu553CysfsTer20
ENST00000373203.8:c.1657del ENSP00000362299.4:p.Leu553CysfsTer20
ENST00000480266.5:c.1111del ENSP00000479015.1:p.Leu371CysfsTer20
NM_000118.3:c.1657del , LRG_589t1:c.1657del NP_000109.1:p.Leu553CysfsTer20
NM_001114753.2:c.1657del , LRG_589t2:c.1657del NP_001108225.1:p.Leu553CysfsTer20
NM_001278138.1:c.1111del NP_001265067.1:p.Leu371CysfsTer20
NR_136302.1:n.1378-160del
NM_001114753.3:c.1657del MANE Select NP_001108225.1:p.Leu553CysfsTer20
NM_001278138.2:c.1111del NP_001265067.1:p.Leu371CysfsTer20
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