Canonical Allele Identifier: CA1165412087

Gene: SLC2A1

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.42929026_42929027delinsAC , CM000663.2:g.42929026_42929027delinsAC	GRCh38
NC_000001.10:g.43394697_43394698delinsAC , CM000663.1:g.43394697_43394698delinsAC	GRCh37
NC_000001.9:g.43167284_43167285delinsAC	NCBI36
NG_008232.1:g.35150_35151delinsGT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000426263.10:c.979_980delinsGT MANE Select	ENSP00000416293.2:p.Val327=
ENST00000674545.1:n.473_474delinsGT
ENST00000674765.1:c.979_980delinsGT	ENSP00000501811.1:p.Val327=
ENST00000675112.1:n.1280_1281delinsGT
ENST00000676254.1:n.1428_1429delinsGT
ENST00000426263.7:c.979_980delinsGT	ENSP00000416293.2:p.Val327=
ENST00000439722.2:c.858_859delinsGT	ENSP00000395521.2:n.858_859delinsGT
ENST00000475162.3:c.415+1599_415+1600delinsGT
ENST00000630287.2:c.*294_*295delinsGT	ENSP00000486694.1:n.*294_*295delinsGT
NM_006516.2:c.979_980delinsGT	NP_006507.2:p.Val327=
NM_006516.3:c.979_980delinsGT	NP_006507.2:p.Val327=
NM_006516.4:c.979_980delinsGT MANE Select	NP_006507.2:p.Val327=