Canonical Allele Identifier: CA803386
Gene: SLC2A1 HGNC NCBI

Linked Data

ClinVar Variation Id: 420171
ClinVar RCV Id: RCV000480872
dbSNP Id: rs761093585
ExAC: 1:43394854 T / TG
gnomAD v2: 1-43394854-T-TG
gnomAD v3: 1-42929183-T-TG
gnomAD v4: 1-42929183-T-TG
MyVariant Identifiers: chr1:g.43394855dupG (hg19) chr1:g.43394855_43394856insG (hg19) chr1:g.43394854_43394855insG (hg19) chr1:g.42929184dupG (hg38) chr1:g.42929184_42929185insG (hg38) chr1:g.42929183_42929184insG (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.42929190dup , CM000663.2:g.42929190dup GRCh38
NC_000001.10:g.43394861dup , CM000663.1:g.43394861dup GRCh37
NC_000001.9:g.43167448dup NCBI36
NG_008232.1:g.34993dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000426263.10:c.972+26dup MANE Select ENSP00000416293.2:n.972+26dup
ENST00000674545.1:n.316dup
ENST00000674765.1:c.972+26dup ENSP00000501811.1:n.972+26dup
ENST00000675112.1:n.1273+26dup
ENST00000676254.1:n.1421+26dup
ENST00000426263.7:c.972+26dup ENSP00000416293.2:n.972+26dup
ENST00000439722.2:c.851+26dup ENSP00000395521.2:n.851+26dup
ENST00000475162.3:c.415+1442dup
ENST00000630287.2:c.*287+26dup ENSP00000486694.1:n.*287+26dup
NM_006516.2:c.972+26dup NP_006507.2:n.972+26dup
NM_006516.3:c.972+26dup NP_006507.2:n.972+26dup
NM_006516.4:c.972+26dup MANE Select NP_006507.2:n.972+26dup
Search 100 bp 5'
Search 100 bp 3'