Canonical Allele Identifier: CA2582341914

Gene: SLC2A1

Linked Data

• ClinVar Variation Id: 2585110
• ClinVar RCV Id: RCV003337726 ; RCV003517485

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.42929720_42929723del , CM000663.2:g.42929720_42929723del	GRCh38
NC_000001.10:g.43395391_43395394del , CM000663.1:g.43395391_43395394del	GRCh37
NC_000001.9:g.43167978_43167981del	NCBI36
NG_008232.1:g.34454_34457del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000426263.10:c.737_740del MANE Select	ENSP00000416293.2:p.Glu246GlyfsTer5
ENST00000669445.1:c.67_70del
ENST00000674765.1:c.737_740del	ENSP00000501811.1:p.Glu246GlyfsTer5
ENST00000675112.1:n.760_763del
ENST00000676254.1:n.1186_1189del
ENST00000426263.7:c.737_740del	ENSP00000416293.2:p.Glu246GlyfsTer5
ENST00000439722.2:c.616_619del	ENSP00000395521.2:n.616_619del
ENST00000475162.3:c.415+903_415+906del
ENST00000630287.2:c.*52_*55del	ENSP00000486694.1:n.*52_*55del
NM_006516.2:c.737_740del	NP_006507.2:p.Glu246GlyfsTer5
NM_006516.3:c.737_740del	NP_006507.2:p.Glu246GlyfsTer5
NM_006516.4:c.737_740del MANE Select	NP_006507.2:p.Glu246GlyfsTer5