Canonical Allele Identifier: CA658656902

Gene: SLC2A1

Linked Data

• ClinVar Variation Id: 451198
• ClinVar RCV Id: RCV000519895
• dbSNP Id: rs1553156161

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.42930743_42930744delinsAA , CM000663.2:g.42930743_42930744delinsAA	GRCh38
NC_000001.10:g.43396414_43396415delinsAA , CM000663.1:g.43396414_43396415delinsAA	GRCh37
NC_000001.9:g.43169001_43169002delinsAA	NCBI36
NG_008232.1:g.33433_33434delinsTT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000426263.10:c.398_399delinsTT MANE Select	ENSP00000416293.2:p.Cys133Phe
ENST00000674765.1:c.398_399delinsTT	ENSP00000501811.1:p.Cys133Phe
ENST00000675112.1:n.421_422delinsTT
ENST00000676254.1:n.847_848delinsTT
ENST00000372500.4:c.302_303delinsTT	ENSP00000361578.4:p.Cys101Phe
ENST00000426263.7:c.398_399delinsTT	ENSP00000416293.2:p.Cys133Phe
ENST00000439722.2:c.277_278delinsTT	ENSP00000395521.2:n.277_278delinsTT
ENST00000475162.3:c.297_298delinsTT
ENST00000625233.2:n.606_607delinsTT
ENST00000630287.2:c.398_399delinsTT	ENSP00000486694.1:p.Cys133Phe
NM_006516.2:c.398_399delinsTT	NP_006507.2:p.Cys133Phe
NM_006516.3:c.398_399delinsTT	NP_006507.2:p.Cys133Phe
NM_006516.4:c.398_399delinsTT MANE Select	NP_006507.2:p.Cys133Phe