Canonical Allele Identifier: CA2586966484
Gene: SLC2A1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.42927783dup , CM000663.2:g.42927783dup GRCh38
NC_000001.10:g.43393454dup , CM000663.1:g.43393454dup GRCh37
NC_000001.9:g.43166041dup NCBI36
NG_008232.1:g.36394dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000426263.10:c.1100dup MANE Select ENSP00000416293.2:p.Ser368GlufsTer13
ENST00000674545.1:n.1717dup
ENST00000674765.1:c.1030-926dup ENSP00000501811.1:n.1030-926dup
ENST00000675112.1:n.1401dup
ENST00000676254.1:n.1549dup
ENST00000426263.7:c.1100dup ENSP00000416293.2:p.Ser368GlufsTer13
ENST00000475162.3:c.416-805dup
ENST00000630287.2:c.*415dup ENSP00000486694.1:n.*415dup
NM_006516.2:c.1100dup NP_006507.2:p.Ser368GlufsTer13
NM_006516.3:c.1100dup NP_006507.2:p.Ser368GlufsTer13
NM_006516.4:c.1100dup MANE Select NP_006507.2:p.Ser368GlufsTer13