Canonical Allele Identifier: CA2586966542

Gene: SLC2A1

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.42929612dup , CM000663.2:g.42929612dup	GRCh38
NC_000001.10:g.43395283dup , CM000663.1:g.43395283dup	GRCh37
NC_000001.9:g.43167870dup	NCBI36
NG_008232.1:g.34565dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000426263.10:c.848dup MANE Select	ENSP00000416293.2:p.Leu284AlafsTer?
ENST00000674765.1:c.848dup	ENSP00000501811.1:p.Leu284AlafsTer?
ENST00000675112.1:n.871dup
ENST00000676254.1:n.1297dup
ENST00000426263.7:c.848dup	ENSP00000416293.2:p.Leu284AlafsTer?
ENST00000439722.2:c.727dup	ENSP00000395521.2:n.727dup
ENST00000475162.3:c.415+1014dup
ENST00000630287.2:c.*163dup	ENSP00000486694.1:n.*163dup
NM_006516.2:c.848dup	NP_006507.2:p.Leu284AlafsTer?
NM_006516.3:c.848dup	NP_006507.2:p.Leu284AlafsTer?
NM_006516.4:c.848dup MANE Select	NP_006507.2:p.Leu284AlafsTer?