Canonical Allele Identifier: CA2586966576

Gene: SLC2A1

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.42930636_42930637dup , CM000663.2:g.42930636_42930637dup	GRCh38
NC_000001.10:g.43396307_43396308dup , CM000663.1:g.43396307_43396308dup	GRCh37
NC_000001.9:g.43168894_43168895dup	NCBI36
NG_008232.1:g.33541_33542dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000426263.10:c.506_507dup MANE Select	ENSP00000416293.2:p.Ile170SerfsTer22
ENST00000674765.1:c.506_507dup	ENSP00000501811.1:p.Ile170SerfsTer22
ENST00000675112.1:n.529_530dup
ENST00000676254.1:n.955_956dup
ENST00000426263.7:c.506_507dup	ENSP00000416293.2:p.Ile170SerfsTer22
ENST00000439722.2:c.385_386dup	ENSP00000395521.2:n.385_386dup
ENST00000475162.3:c.405_406dup
ENST00000625233.2:n.714_715dup
ENST00000630287.2:c.506_507dup	ENSP00000486694.1:p.Ile170SerfsTer13
NM_006516.2:c.506_507dup	NP_006507.2:p.Ile170SerfsTer22
NM_006516.3:c.506_507dup	NP_006507.2:p.Ile170SerfsTer22
NM_006516.4:c.506_507dup MANE Select	NP_006507.2:p.Ile170SerfsTer22