Canonical Allele Identifier: CA2586966587

Gene: SLC2A1

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.42930802dup , CM000663.2:g.42930802dup	GRCh38
NC_000001.10:g.43396473dup , CM000663.1:g.43396473dup	GRCh37
NC_000001.9:g.43169060dup	NCBI36
NG_008232.1:g.33377dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000426263.10:c.342dup MANE Select	ENSP00000416293.2:p.Leu115ThrfsTer6
ENST00000674765.1:c.342dup	ENSP00000501811.1:p.Leu115ThrfsTer6
ENST00000675112.1:n.365dup
ENST00000676254.1:n.791dup
ENST00000372500.4:c.246dup	ENSP00000361578.4:p.Leu83ThrfsTer6
ENST00000426263.7:c.342dup	ENSP00000416293.2:p.Leu115ThrfsTer6
ENST00000439722.2:c.221dup	ENSP00000395521.2:n.221dup
ENST00000475162.3:c.241dup
ENST00000625233.2:n.550dup
ENST00000630287.2:c.342dup	ENSP00000486694.1:p.Leu115ThrfsTer6
NM_006516.2:c.342dup	NP_006507.2:p.Leu115ThrfsTer6
NM_006516.3:c.342dup	NP_006507.2:p.Leu115ThrfsTer6
NM_006516.4:c.342dup MANE Select	NP_006507.2:p.Leu115ThrfsTer6