Canonical Allele Identifier: CA1141188950

Gene: SLC2A1

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.42929275_42929279delinsCCCCC , CM000663.2:g.42929275_42929279delinsCCCCC	GRCh38
NC_000001.10:g.43394946_43394950delinsCCCCC , CM000663.1:g.43394946_43394950delinsCCCCC	GRCh37
NC_000001.9:g.43167533_43167537delinsCCCCC	NCBI36
NG_008232.1:g.34898_34902delinsGGGGG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000426263.10:c.903_907delinsGGGGG MANE Select	ENSP00000416293.2:p.Ala301=
ENST00000674545.1:n.221_225delinsGGGGG
ENST00000674765.1:c.903_907delinsGGGGG	ENSP00000501811.1:p.Ala301=
ENST00000675112.1:n.1204_1208delinsGGGGG
ENST00000676254.1:n.1352_1356delinsGGGGG
ENST00000426263.7:c.903_907delinsGGGGG	ENSP00000416293.2:p.Ala301=
ENST00000439722.2:c.782_786delinsGGGGG	ENSP00000395521.2:n.782_786delinsGGGGG
ENST00000475162.3:c.415+1347_415+1351delinsGGGGG
ENST00000630287.2:c.*218_*222delinsGGGGG	ENSP00000486694.1:n.*218_*222delinsGGGGG
NM_006516.2:c.903_907delinsGGGGG	NP_006507.2:p.Ala301=
NM_006516.3:c.903_907delinsGGGGG	NP_006507.2:p.Ala301=
NM_006516.4:c.903_907delinsGGGGG MANE Select	NP_006507.2:p.Ala301=