Canonical Allele Identifier: CA2743369592
Gene: SLC2A1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.42930165dup , CM000663.2:g.42930165dup GRCh38
NC_000001.10:g.43395836dup , CM000663.1:g.43395836dup GRCh37
NC_000001.9:g.43168423dup NCBI36
NG_008232.1:g.34012dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000426263.10:c.517-130dup MANE Select ENSP00000416293.2:n.517-130dup
ENST00000674765.1:c.517-130dup ENSP00000501811.1:n.517-130dup
ENST00000675112.1:n.540-130dup
ENST00000676254.1:n.966-130dup
ENST00000426263.7:c.517-130dup ENSP00000416293.2:n.517-130dup
ENST00000439722.2:c.396-130dup ENSP00000395521.2:n.396-130dup
ENST00000475162.3:c.415+461dup
ENST00000630287.2:c.517-385dup ENSP00000486694.1:n.517-385dup
NM_006516.2:c.517-130dup NP_006507.2:n.517-130dup
NM_006516.3:c.517-130dup NP_006507.2:n.517-130dup
NM_006516.4:c.517-130dup MANE Select NP_006507.2:n.517-130dup