Canonical Allele Identifier: CA2582341913
Gene: SLC2A1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2584846
ClinVar RCV Id: RCV003340746
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.42929218del , CM000663.2:g.42929218del GRCh38
NC_000001.10:g.43394889del , CM000663.1:g.43394889del GRCh37
NC_000001.9:g.43167476del NCBI36
NG_008232.1:g.34959del

Transcript Alleles

HGVS Amino-acid Change
ENST00000426263.10:c.964del MANE Select ENSP00000416293.2:p.Val322SerfsTer18
ENST00000674545.1:n.282del
ENST00000674765.1:c.964del ENSP00000501811.1:p.Val322SerfsTer18
ENST00000675112.1:n.1265del
ENST00000676254.1:n.1413del
ENST00000426263.7:c.964del ENSP00000416293.2:p.Val322SerfsTer18
ENST00000439722.2:c.843del ENSP00000395521.2:n.843del
ENST00000475162.3:c.415+1408del
ENST00000630287.2:c.*279del ENSP00000486694.1:n.*279del
NM_006516.2:c.964del NP_006507.2:p.Val322SerfsTer18
NM_006516.3:c.964del NP_006507.2:p.Val322SerfsTer18
NM_006516.4:c.964del MANE Select NP_006507.2:p.Val322SerfsTer18
Search 100 bp 5'
Search 100 bp 3'