Canonical Allele Identifier: CA2586966564

Gene: SLC2A1

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.42929771_42929772insA , CM000663.2:g.42929771_42929772insA	GRCh38
NC_000001.10:g.43395442_43395443insA , CM000663.1:g.43395442_43395443insA	GRCh37
NC_000001.9:g.43168029_43168030insA	NCBI36
NG_008232.1:g.34405_34406insT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000426263.10:c.688_689insT MANE Select	ENSP00000416293.2:p.Lys230IlefsTer7
ENST00000669445.1:c.57-39_57-38insT
ENST00000674765.1:c.688_689insT	ENSP00000501811.1:p.Lys230IlefsTer7
ENST00000675112.1:n.711_712insT
ENST00000676254.1:n.1137_1138insT
ENST00000426263.7:c.688_689insT	ENSP00000416293.2:p.Lys230IlefsTer7
ENST00000439722.2:c.567_568insT	ENSP00000395521.2:n.567_568insT
ENST00000475162.3:c.415+854_415+855insT
ENST00000630287.2:c.*3_*4insT	ENSP00000486694.1:n.*3_*4insT
NM_006516.2:c.688_689insT	NP_006507.2:p.Lys230IlefsTer7
NM_006516.3:c.688_689insT	NP_006507.2:p.Lys230IlefsTer7
NM_006516.4:c.688_689insT MANE Select	NP_006507.2:p.Lys230IlefsTer7