Canonical Allele Identifier: CA2586966485
Gene: SLC2A1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.42927803del , CM000663.2:g.42927803del GRCh38
NC_000001.10:g.43393474del , CM000663.1:g.43393474del GRCh37
NC_000001.9:g.43166061del NCBI36
NG_008232.1:g.36374del

Transcript Alleles

HGVS Amino-acid Change
ENST00000426263.10:c.1080del MANE Select ENSP00000416293.2:p.Gln360HisfsTer8
ENST00000674545.1:n.1697del
ENST00000674765.1:c.1030-946del ENSP00000501811.1:n.1030-946del
ENST00000675112.1:n.1381del
ENST00000676254.1:n.1529del
ENST00000426263.7:c.1080del ENSP00000416293.2:p.Gln360HisfsTer8
ENST00000475162.3:c.416-825del
ENST00000630287.2:c.*395del ENSP00000486694.1:n.*395del
NM_006516.2:c.1080del NP_006507.2:p.Gln360HisfsTer8
NM_006516.3:c.1080del NP_006507.2:p.Gln360HisfsTer8
NM_006516.4:c.1080del MANE Select NP_006507.2:p.Gln360HisfsTer8