Canonical Allele Identifier: CA16618746
Gene: ENG HGNC NCBI

Linked Data

ClinVar Variation Id: 419463
ClinVar RCV Id: RCV003758787
dbSNP Id: rs1064793889
MyVariant Identifiers: chr9:g.130581059_130581060insG (hg19) chr9:g.127818780_127818781insG (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.127818780_127818781insG , CM000671.2:g.127818780_127818781insG GRCh38
NC_000009.11:g.130581059_130581060insG , CM000671.1:g.130581059_130581060insG GRCh37
NC_000009.10:g.129620880_129620881insG NCBI36
NG_009551.1:g.40988_40989insC , LRG_589:g.40988_40989insC

Transcript Alleles

HGVS Amino-acid change
ENST00000480266.6:c.817_818insC ENSP00000479015.1:p.Tyr273SerfsTer?
ENST00000373203.9:c.1363_1364insC MANE Select ENSP00000362299.4:p.Tyr455SerfsTer?
ENST00000344849.4:c.1363_1364insC ENSP00000341917.3:p.Tyr455SerfsTer?
ENST00000373203.8:c.1363_1364insC ENSP00000362299.4:p.Tyr455SerfsTer?
ENST00000480266.5:c.817_818insC ENSP00000479015.1:p.Tyr273SerfsTer?
NM_000118.3:c.1363_1364insC , LRG_589t1:c.1363_1364insC NP_000109.1:p.Tyr455SerfsTer?
NM_001114753.2:c.1363_1364insC , LRG_589t2:c.1363_1364insC NP_001108225.1:p.Tyr455SerfsTer?
NM_001278138.1:c.817_818insC NP_001265067.1:p.Tyr273SerfsTer?
NR_136302.1:n.1568+69_1568+70insG
NM_001114753.3:c.1363_1364insC MANE Select NP_001108225.1:p.Tyr455SerfsTer?
NM_001278138.2:c.817_818insC NP_001265067.1:p.Tyr273SerfsTer?
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