Canonical Allele Identifier: CA2586966529
Gene: SLC2A1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.42929013del , CM000663.2:g.42929013del GRCh38
NC_000001.10:g.43394684del , CM000663.1:g.43394684del GRCh37
NC_000001.9:g.43167271del NCBI36
NG_008232.1:g.35164del

Transcript Alleles

HGVS Amino-acid Change
ENST00000426263.10:c.993del MANE Select ENSP00000416293.2:p.Gly332AlafsTer8
ENST00000674545.1:n.487del
ENST00000674765.1:c.993del ENSP00000501811.1:p.Gly332AlafsTer8
ENST00000675112.1:n.1294del
ENST00000676254.1:n.1442del
ENST00000426263.7:c.993del ENSP00000416293.2:p.Gly332AlafsTer8
ENST00000475162.3:c.415+1613del
ENST00000630287.2:c.*308del ENSP00000486694.1:n.*308del
NM_006516.2:c.993del NP_006507.2:p.Gly332AlafsTer8
NM_006516.3:c.993del NP_006507.2:p.Gly332AlafsTer8
NM_006516.4:c.993del MANE Select NP_006507.2:p.Gly332AlafsTer8