Canonical Allele Identifier: CA2580062771

Gene: SLC2A1

Linked Data

• ClinVar Variation Id: 29723
• ClinVar RCV Id: RCV000022575
• dbSNP Id: rs2124448406

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.42929306_42929308dup , CM000663.2:g.42929306_42929308dup	GRCh38
NC_000001.10:g.43394977_43394979dup , CM000663.1:g.43394977_43394979dup	GRCh37
NC_000001.9:g.43167564_43167566dup	NCBI36
NG_008232.1:g.34871_34873dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000426263.10:c.876_878dup MANE Select	ENSP00000416293.2:p.Tyr293_Ser294insTyr
ENST00000674545.1:n.194_196dup
ENST00000674765.1:c.876_878dup	ENSP00000501811.1:p.Tyr293_Ser294insTyr
ENST00000675112.1:n.1177_1179dup
ENST00000676254.1:n.1325_1327dup
ENST00000426263.7:c.876_878dup	ENSP00000416293.2:p.Tyr293_Ser294insTyr
ENST00000439722.2:c.755_757dup	ENSP00000395521.2:n.755_757dup
ENST00000475162.3:c.415+1320_415+1322dup
ENST00000630287.2:c.*191_*193dup	ENSP00000486694.1:n.*191_*193dup
NM_006516.2:c.876_878dup	NP_006507.2:p.Tyr293_Ser294insTyr
NM_006516.3:c.876_878dup	NP_006507.2:p.Tyr293_Ser294insTyr
NM_006516.4:c.876_878dup MANE Select	NP_006507.2:p.Tyr293_Ser294insTyr