Canonical Allele Identifier: CA2586966548

Gene: SLC2A1

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.42929671dup , CM000663.2:g.42929671dup	GRCh38
NC_000001.10:g.43395342dup , CM000663.1:g.43395342dup	GRCh37
NC_000001.9:g.43167929dup	NCBI36
NG_008232.1:g.34507dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000426263.10:c.790dup MANE Select	ENSP00000416293.2:p.Arg264ProfsTer?
ENST00000669445.1:c.120dup
ENST00000674765.1:c.790dup	ENSP00000501811.1:p.Arg264ProfsTer?
ENST00000675112.1:n.813dup
ENST00000676254.1:n.1239dup
ENST00000426263.7:c.790dup	ENSP00000416293.2:p.Arg264ProfsTer?
ENST00000439722.2:c.669dup	ENSP00000395521.2:n.669dup
ENST00000475162.3:c.415+956dup
ENST00000630287.2:c.*105dup	ENSP00000486694.1:n.*105dup
NM_006516.2:c.790dup	NP_006507.2:p.Arg264ProfsTer?
NM_006516.3:c.790dup	NP_006507.2:p.Arg264ProfsTer?
NM_006516.4:c.790dup MANE Select	NP_006507.2:p.Arg264ProfsTer?