Canonical Allele Identifier: CA2586966579
Gene: SLC2A1 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.42930679_42930697del , CM000663.2:g.42930679_42930697del GRCh38
NC_000001.10:g.43396350_43396368del , CM000663.1:g.43396350_43396368del GRCh37
NC_000001.9:g.43168937_43168955del NCBI36
NG_008232.1:g.33483_33501del

Transcript Alleles

HGVS Amino-acid change
ENST00000426263.10:c.448_466del MANE Select ENSP00000416293.2:p.Thr150TrpfsTer?
ENST00000674765.1:c.448_466del ENSP00000501811.1:p.Thr150TrpfsTer?
ENST00000675112.1:n.471_489del
ENST00000676254.1:n.897_915del
ENST00000426263.7:c.448_466del ENSP00000416293.2:p.Thr150TrpfsTer?
ENST00000439722.2:c.327_345del ENSP00000395521.2:n.327_345del
ENST00000475162.3:c.347_365del
ENST00000625233.2:n.656_674del
ENST00000630287.2:c.448_466del ENSP00000486694.1:p.Thr150TrpfsTer26
NM_006516.2:c.448_466del NP_006507.2:p.Thr150TrpfsTer?
NM_006516.3:c.448_466del NP_006507.2:p.Thr150TrpfsTer?
NM_006516.4:c.448_466del MANE Select NP_006507.2:p.Thr150TrpfsTer?
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