Canonical Allele Identifier: CA1165412354

Gene: SLC2A1

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.42929669_42929670delinsCG , CM000663.2:g.42929669_42929670delinsCG	GRCh38
NC_000001.10:g.43395340_43395341delinsCG , CM000663.1:g.43395340_43395341delinsCG	GRCh37
NC_000001.9:g.43167927_43167928delinsCG	NCBI36
NG_008232.1:g.34507_34508delinsCG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000426263.10:c.790_791delinsCG MANE Select	ENSP00000416293.2:p.Arg264=
ENST00000669445.1:c.120_121delinsCG
ENST00000674765.1:c.790_791delinsCG	ENSP00000501811.1:p.Arg264=
ENST00000675112.1:n.813_814delinsCG
ENST00000676254.1:n.1239_1240delinsCG
ENST00000426263.7:c.790_791delinsCG	ENSP00000416293.2:p.Arg264=
ENST00000439722.2:c.669_670delinsCG	ENSP00000395521.2:n.669_670delinsCG
ENST00000475162.3:c.415+956_415+957delinsCG
ENST00000630287.2:c.*105_*106delinsCG	ENSP00000486694.1:n.*105_*106delinsCG
NM_006516.2:c.790_791delinsCG	NP_006507.2:p.Arg264=
NM_006516.3:c.790_791delinsCG	NP_006507.2:p.Arg264=
NM_006516.4:c.790_791delinsCG MANE Select	NP_006507.2:p.Arg264=