Canonical Allele Identifier: CA2586966536
Gene: SLC2A1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.42929270del , CM000663.2:g.42929270del GRCh38
NC_000001.10:g.43394941del , CM000663.1:g.43394941del GRCh37
NC_000001.9:g.43167528del NCBI36
NG_008232.1:g.34907del

Transcript Alleles

HGVS Amino-acid Change
ENST00000426263.10:c.912del MANE Select ENSP00000416293.2:p.Gln304HisfsTer?
ENST00000674545.1:n.230del
ENST00000674765.1:c.912del ENSP00000501811.1:p.Gln304HisfsTer?
ENST00000675112.1:n.1213del
ENST00000676254.1:n.1361del
ENST00000426263.7:c.912del ENSP00000416293.2:p.Gln304HisfsTer?
ENST00000439722.2:c.791del ENSP00000395521.2:n.791del
ENST00000475162.3:c.415+1356del
ENST00000630287.2:c.*227del ENSP00000486694.1:n.*227del
NM_006516.2:c.912del NP_006507.2:p.Gln304HisfsTer?
NM_006516.3:c.912del NP_006507.2:p.Gln304HisfsTer?
NM_006516.4:c.912del MANE Select NP_006507.2:p.Gln304HisfsTer?