Canonical Allele Identifier: CA2739291956

Gene: SLC2A1

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.42930637_42930648dup , CM000663.2:g.42930637_42930648dup	GRCh38
NC_000001.10:g.43396308_43396319dup , CM000663.1:g.43396308_43396319dup	GRCh37
NC_000001.9:g.43168895_43168906dup	NCBI36
NG_008232.1:g.33531_33542dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000426263.10:c.496_507dup MANE Select	ENSP00000416293.2:p.Leu169_Ile170insValGl...
ENST00000674765.1:c.496_507dup	ENSP00000501811.1:p.Leu169_Ile170insValGl...
ENST00000675112.1:n.519_530dup
ENST00000676254.1:n.945_956dup
ENST00000426263.7:c.496_507dup	ENSP00000416293.2:p.Leu169_Ile170insValGl...
ENST00000439722.2:c.375_386dup	ENSP00000395521.2:n.375_386dup
ENST00000475162.3:c.395_406dup
ENST00000625233.2:n.704_715dup
ENST00000630287.2:c.496_507dup	ENSP00000486694.1:p.Leu169_Ile170insValGl...
NM_006516.2:c.496_507dup	NP_006507.2:p.Leu169_Ile170insValGlyIleLe...
NM_006516.3:c.496_507dup	NP_006507.2:p.Leu169_Ile170insValGlyIleLe...
NM_006516.4:c.496_507dup MANE Select	NP_006507.2:p.Leu169_Ile170insValGlyIleLe...