Canonical Allele Identifier: CA913184983

Gene: SLC2A1

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.42929714delinsGG , CM000663.2:g.42929714delinsGG	GRCh38
NC_000001.10:g.43395385delinsGG , CM000663.1:g.43395385delinsGG	GRCh37
NC_000001.9:g.43167972delinsGG	NCBI36
NG_008232.1:g.34463delinsCC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000426263.10:c.746delinsCC MANE Select	ENSP00000416293.2:p.Arg249ProfsTer?
ENST00000669445.1:c.76delinsCC
ENST00000674765.1:c.746delinsCC	ENSP00000501811.1:p.Arg249ProfsTer?
ENST00000675112.1:n.769delinsCC
ENST00000676254.1:n.1195delinsCC
ENST00000426263.7:c.746delinsCC	ENSP00000416293.2:p.Arg249ProfsTer?
ENST00000439722.2:c.625delinsCC	ENSP00000395521.2:n.625delinsCC
ENST00000475162.3:c.415+912delinsCC
ENST00000630287.2:c.*61delinsCC	ENSP00000486694.1:n.*61delinsCC
NM_006516.2:c.746delinsCC	NP_006507.2:p.Arg249ProfsTer?
NM_006516.3:c.746delinsCC	NP_006507.2:p.Arg249ProfsTer?
NM_006516.4:c.746delinsCC MANE Select	NP_006507.2:p.Arg249ProfsTer?