Canonical Allele Identifier: CA2697552358

Gene: SLC2A1

Linked Data

• ClinVar Variation Id: 2748411
• ClinVar RCV Id: RCV003516863

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.42929624dup , CM000663.2:g.42929624dup	GRCh38
NC_000001.10:g.43395295dup , CM000663.1:g.43395295dup	GRCh37
NC_000001.9:g.43167882dup	NCBI36
NG_008232.1:g.34553dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000426263.10:c.836dup MANE Select	ENSP00000416293.2:p.Leu280AlafsTer?
ENST00000674765.1:c.836dup	ENSP00000501811.1:p.Leu280AlafsTer?
ENST00000675112.1:n.859dup
ENST00000676254.1:n.1285dup
ENST00000426263.7:c.836dup	ENSP00000416293.2:p.Leu280AlafsTer?
ENST00000439722.2:c.715dup	ENSP00000395521.2:n.715dup
ENST00000475162.3:c.415+1002dup
ENST00000630287.2:c.*151dup	ENSP00000486694.1:n.*151dup
NM_006516.2:c.836dup	NP_006507.2:p.Leu280AlafsTer?
NM_006516.3:c.836dup	NP_006507.2:p.Leu280AlafsTer?
NM_006516.4:c.836dup MANE Select	NP_006507.2:p.Leu280AlafsTer?