Canonical Allele Identifier: CA10602789
Gene: SLC2A1 HGNC NCBI

Linked Data

ClinVar Variation Id: 280372
ClinVar RCV Id: RCV000281833 RCV001855067 RCV003445826
dbSNP Id: rs886041590
MyVariant Identifiers: chr1:g.43394914dupG (hg19) chr1:g.43394913_43394914insG (hg19) chr1:g.42929243dupG (hg38) chr1:g.42929242_42929243insG (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.42929244dup , CM000663.2:g.42929244dup GRCh38
NC_000001.10:g.43394915dup , CM000663.1:g.43394915dup GRCh37
NC_000001.9:g.43167502dup NCBI36
NG_008232.1:g.34934dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000426263.10:c.939dup MANE Select ENSP00000416293.2:p.Gly314ArgfsTer?
ENST00000674545.1:n.257dup
ENST00000674765.1:c.939dup ENSP00000501811.1:p.Gly314ArgfsTer?
ENST00000675112.1:n.1240dup
ENST00000676254.1:n.1388dup
ENST00000426263.7:c.939dup ENSP00000416293.2:p.Gly314ArgfsTer?
ENST00000439722.2:c.818dup ENSP00000395521.2:n.818dup
ENST00000475162.3:c.415+1383dup
ENST00000630287.2:c.*254dup ENSP00000486694.1:n.*254dup
NM_006516.2:c.939dup NP_006507.2:p.Gly314ArgfsTer?
NM_006516.3:c.939dup NP_006507.2:p.Gly314ArgfsTer?
NM_006516.4:c.939dup MANE Select NP_006507.2:p.Gly314ArgfsTer?
Search 100 bp 5'
Search 100 bp 3'