Canonical Allele Identifier: CA915941226
Gene: SLC2A1 HGNC NCBI

Linked Data

ClinVar Variation Id: 817772
ClinVar RCV Id: RCV001008987
dbSNP Id: rs1570591037
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.42927801_42927807del , CM000663.2:g.42927801_42927807del GRCh38
NC_000001.10:g.43393472_43393478del , CM000663.1:g.43393472_43393478del GRCh37
NC_000001.9:g.43166059_43166065del NCBI36
NG_008232.1:g.36371_36377del

Transcript Alleles

HGVS Amino-acid Change
ENST00000426263.10:c.1077_1083del MANE Select ENSP00000416293.2:p.Glu359AspfsTer7
ENST00000674545.1:n.1694_1700del
ENST00000674765.1:c.1030-949_1030-943del ENSP00000501811.1:n.1030-949_1030-943del
ENST00000675112.1:n.1378_1384del
ENST00000676254.1:n.1526_1532del
ENST00000426263.7:c.1077_1083del ENSP00000416293.2:p.Glu359AspfsTer7
ENST00000475162.3:c.416-828_416-822del
ENST00000630287.2:c.*392_*398del ENSP00000486694.1:n.*392_*398del
NM_006516.2:c.1077_1083del NP_006507.2:p.Glu359AspfsTer7
NM_006516.3:c.1077_1083del NP_006507.2:p.Glu359AspfsTer7
NM_006516.4:c.1077_1083del MANE Select NP_006507.2:p.Glu359AspfsTer7
Search 100 bp 5'
Search 100 bp 3'