Canonical Allele Identifier: CA1165412735

Gene: SLC2A1

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.42930634_42930637delinsTGAG , CM000663.2:g.42930634_42930637delinsTGAG	GRCh38
NC_000001.10:g.43396305_43396308delinsTGAG , CM000663.1:g.43396305_43396308delinsTGAG	GRCh37
NC_000001.9:g.43168892_43168895delinsTGAG	NCBI36
NG_008232.1:g.33540_33543delinsCTCA

Transcript Alleles

HGVS	Amino-acid change
ENST00000426263.10:c.505_508delinsCTCA MANE Select	ENSP00000416293.2:p.Leu169=
ENST00000674765.1:c.505_508delinsCTCA	ENSP00000501811.1:p.Leu169=
ENST00000675112.1:n.528_531delinsCTCA
ENST00000676254.1:n.954_957delinsCTCA
ENST00000426263.7:c.505_508delinsCTCA	ENSP00000416293.2:p.Leu169=
ENST00000439722.2:c.384_387delinsCTCA	ENSP00000395521.2:n.384_387delinsCTCA
ENST00000475162.3:c.404_407delinsCTCA
ENST00000625233.2:n.713_716delinsCTCA
ENST00000630287.2:c.505_508delinsCTCA	ENSP00000486694.1:p.Leu169=
NM_006516.2:c.505_508delinsCTCA	NP_006507.2:p.Leu169=
NM_006516.3:c.505_508delinsCTCA	NP_006507.2:p.Leu169=
NM_006516.4:c.505_508delinsCTCA MANE Select	NP_006507.2:p.Leu169=