Canonical Allele Identifier: CA2499214720

Gene: SLC2A1

Linked Data

• ClinVar Variation Id: 1056917
• ClinVar RCV Id: RCV001365817
• dbSNP Id: rs2124449063

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.42929754_42929755delinsAG , CM000663.2:g.42929754_42929755delinsAG	GRCh38
NC_000001.10:g.43395425_43395426delinsAG , CM000663.1:g.43395425_43395426delinsAG	GRCh37
NC_000001.9:g.43168012_43168013delinsAG	NCBI36
NG_008232.1:g.34422_34423delinsCT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000426263.10:c.705_706delinsCT MANE Select	ENSP00000416293.2:p.Asp236Tyr
ENST00000669445.1:c.57-22_57-21delinsCT
ENST00000674765.1:c.705_706delinsCT	ENSP00000501811.1:p.Asp236Tyr
ENST00000675112.1:n.728_729delinsCT
ENST00000676254.1:n.1154_1155delinsCT
ENST00000426263.7:c.705_706delinsCT	ENSP00000416293.2:p.Asp236Tyr
ENST00000439722.2:c.584_585delinsCT	ENSP00000395521.2:n.584_585delinsCT
ENST00000475162.3:c.415+871_415+872delinsCT
ENST00000630287.2:c.*20_*21delinsCT	ENSP00000486694.1:n.*20_*21delinsCT
NM_006516.2:c.705_706delinsCT	NP_006507.2:p.Asp236Tyr
NM_006516.3:c.705_706delinsCT	NP_006507.2:p.Asp236Tyr
NM_006516.4:c.705_706delinsCT MANE Select	NP_006507.2:p.Asp236Tyr