Canonical Allele Identifier: CA2697552356
Gene: SLC2A1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2701748
ClinVar RCV Id: RCV003517980
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.42927782_42927783del , CM000663.2:g.42927782_42927783del GRCh38
NC_000001.10:g.43393453_43393454del , CM000663.1:g.43393453_43393454del GRCh37
NC_000001.9:g.43166040_43166041del NCBI36
NG_008232.1:g.36394_36395del

Transcript Alleles

HGVS Amino-acid Change
ENST00000426263.10:c.1100_1101del MANE Select ENSP00000416293.2:p.Leu367GlnfsTer13
ENST00000674545.1:n.1717_1718del
ENST00000674765.1:c.1030-926_1030-925del ENSP00000501811.1:n.1030-926_1030-925del
ENST00000675112.1:n.1401_1402del
ENST00000676254.1:n.1549_1550del
ENST00000426263.7:c.1100_1101del ENSP00000416293.2:p.Leu367GlnfsTer13
ENST00000475162.3:c.416-805_416-804del
ENST00000630287.2:c.*415_*416del ENSP00000486694.1:n.*415_*416del
NM_006516.2:c.1100_1101del NP_006507.2:p.Leu367GlnfsTer13
NM_006516.3:c.1100_1101del NP_006507.2:p.Leu367GlnfsTer13
NM_006516.4:c.1100_1101del MANE Select NP_006507.2:p.Leu367GlnfsTer13
Search 100 bp 5'
Search 100 bp 3'