Canonical Allele Identifier: CA2586966554

Gene: SLC2A1

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.42929715dup , CM000663.2:g.42929715dup	GRCh38
NC_000001.10:g.43395386dup , CM000663.1:g.43395386dup	GRCh37
NC_000001.9:g.43167973dup	NCBI36
NG_008232.1:g.34462dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000426263.10:c.745dup MANE Select	ENSP00000416293.2:p.Arg249ProfsTer?
ENST00000669445.1:c.75dup
ENST00000674765.1:c.745dup	ENSP00000501811.1:p.Arg249ProfsTer?
ENST00000675112.1:n.768dup
ENST00000676254.1:n.1194dup
ENST00000426263.7:c.745dup	ENSP00000416293.2:p.Arg249ProfsTer?
ENST00000439722.2:c.624dup	ENSP00000395521.2:n.624dup
ENST00000475162.3:c.415+911dup
ENST00000630287.2:c.*60dup	ENSP00000486694.1:n.*60dup
NM_006516.2:c.745dup	NP_006507.2:p.Arg249ProfsTer?
NM_006516.3:c.745dup	NP_006507.2:p.Arg249ProfsTer?
NM_006516.4:c.745dup MANE Select	NP_006507.2:p.Arg249ProfsTer?