Canonical Allele Identifier: CA2586966545

Gene: SLC2A1

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.42929668_42929670delinsAC , CM000663.2:g.42929668_42929670delinsAC	GRCh38
NC_000001.10:g.43395339_43395341delinsAC , CM000663.1:g.43395339_43395341delinsAC	GRCh37
NC_000001.9:g.43167926_43167928delinsAC	NCBI36
NG_008232.1:g.34507_34509delinsGT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000426263.10:c.790_792delinsGT MANE Select	ENSP00000416293.2:p.Arg264ValfsTer?
ENST00000669445.1:c.120_122delinsGT
ENST00000674765.1:c.790_792delinsGT	ENSP00000501811.1:p.Arg264ValfsTer?
ENST00000675112.1:n.813_815delinsGT
ENST00000676254.1:n.1239_1241delinsGT
ENST00000426263.7:c.790_792delinsGT	ENSP00000416293.2:p.Arg264ValfsTer?
ENST00000439722.2:c.669_671delinsGT	ENSP00000395521.2:n.669_671delinsGT
ENST00000475162.3:c.415+956_415+958delinsGT
ENST00000630287.2:c.*105_*107delinsGT	ENSP00000486694.1:n.*105_*107delinsGT
NM_006516.2:c.790_792delinsGT	NP_006507.2:p.Arg264ValfsTer?
NM_006516.3:c.790_792delinsGT	NP_006507.2:p.Arg264ValfsTer?
NM_006516.4:c.790_792delinsGT MANE Select	NP_006507.2:p.Arg264ValfsTer?