Canonical Allele Identifier: CA2580062835

Gene: SLC2A1

Linked Data

• ClinVar Variation Id: 2098029
• ClinVar RCV Id: RCV003019095

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.42930698_42930700dup , CM000663.2:g.42930698_42930700dup	GRCh38
NC_000001.10:g.43396369_43396371dup , CM000663.1:g.43396369_43396371dup	GRCh37
NC_000001.9:g.43168956_43168958dup	NCBI36
NG_008232.1:g.33477_33479dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000426263.10:c.442_444dup MANE Select	ENSP00000416293.2:p.Ser148_Pro149insSer
ENST00000674765.1:c.442_444dup	ENSP00000501811.1:p.Ser148_Pro149insSer
ENST00000675112.1:n.465_467dup
ENST00000676254.1:n.891_893dup
ENST00000426263.7:c.442_444dup	ENSP00000416293.2:p.Ser148_Pro149insSer
ENST00000439722.2:c.321_323dup	ENSP00000395521.2:n.321_323dup
ENST00000475162.3:c.341_343dup
ENST00000625233.2:n.650_652dup
ENST00000630287.2:c.442_444dup	ENSP00000486694.1:p.Ser148_Pro149insSer
NM_006516.2:c.442_444dup	NP_006507.2:p.Ser148_Pro149insSer
NM_006516.3:c.442_444dup	NP_006507.2:p.Ser148_Pro149insSer
NM_006516.4:c.442_444dup MANE Select	NP_006507.2:p.Ser148_Pro149insSer