Canonical Allele Identifier: CA1165412787
Gene: SLC2A1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.42930767_42930768delinsGC , CM000663.2:g.42930767_42930768delinsGC GRCh38
NC_000001.10:g.43396438_43396439delinsGC , CM000663.1:g.43396438_43396439delinsGC GRCh37
NC_000001.9:g.43169025_43169026delinsGC NCBI36
NG_008232.1:g.33409_33410delinsGC

Transcript Alleles

HGVS Amino-acid Change
ENST00000426263.10:c.374_375delinsGC MANE Select ENSP00000416293.2:p.Gly125=
ENST00000674765.1:c.374_375delinsGC ENSP00000501811.1:p.Gly125=
ENST00000675112.1:n.397_398delinsGC
ENST00000676254.1:n.823_824delinsGC
ENST00000372500.4:c.278_279delinsGC ENSP00000361578.4:p.Gly93=
ENST00000426263.7:c.374_375delinsGC ENSP00000416293.2:p.Gly125=
ENST00000439722.2:c.253_254delinsGC ENSP00000395521.2:n.253_254delinsGC
ENST00000475162.3:c.273_274delinsGC
ENST00000625233.2:n.582_583delinsGC
ENST00000630287.2:c.374_375delinsGC ENSP00000486694.1:p.Gly125=
NM_006516.2:c.374_375delinsGC NP_006507.2:p.Gly125=
NM_006516.3:c.374_375delinsGC NP_006507.2:p.Gly125=
NM_006516.4:c.374_375delinsGC MANE Select NP_006507.2:p.Gly125=