Canonical Allele Identifier: CA2739291955
Gene: SLC2A1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.42929272dup , CM000663.2:g.42929272dup GRCh38
NC_000001.10:g.43394943dup , CM000663.1:g.43394943dup GRCh37
NC_000001.9:g.43167530dup NCBI36
NG_008232.1:g.34905dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000426263.10:c.910dup MANE Select ENSP00000416293.2:p.Gln304ProfsTer?
ENST00000674545.1:n.228dup
ENST00000674765.1:c.910dup ENSP00000501811.1:p.Gln304ProfsTer?
ENST00000675112.1:n.1211dup
ENST00000676254.1:n.1359dup
ENST00000426263.7:c.910dup ENSP00000416293.2:p.Gln304ProfsTer?
ENST00000439722.2:c.789dup ENSP00000395521.2:n.789dup
ENST00000475162.3:c.415+1354dup
ENST00000630287.2:c.*225dup ENSP00000486694.1:n.*225dup
NM_006516.2:c.910dup NP_006507.2:p.Gln304ProfsTer?
NM_006516.3:c.910dup NP_006507.2:p.Gln304ProfsTer?
NM_006516.4:c.910dup MANE Select NP_006507.2:p.Gln304ProfsTer?