Canonical Allele Identifier: CA2825000962
Gene: SLC2A1 HGNC NCBI

Linked Data

ClinVar Variation Id: 3164086
ClinVar RCV Id: RCV004458974
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.42927766dup , CM000663.2:g.42927766dup GRCh38
NC_000001.10:g.43393437dup , CM000663.1:g.43393437dup GRCh37
NC_000001.9:g.43166024dup NCBI36
NG_008232.1:g.36413dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000426263.10:c.1119dup MANE Select ENSP00000416293.2:p.Gly374TrpfsTer7
ENST00000674545.1:n.1736dup
ENST00000674765.1:c.1030-907dup ENSP00000501811.1:n.1030-907dup
ENST00000675112.1:n.1420dup
ENST00000676254.1:n.1568dup
ENST00000426263.7:c.1119dup ENSP00000416293.2:p.Gly374TrpfsTer7
ENST00000475162.3:c.416-786dup
ENST00000630287.2:c.*434dup ENSP00000486694.1:n.*434dup
NM_006516.2:c.1119dup NP_006507.2:p.Gly374TrpfsTer7
NM_006516.3:c.1119dup NP_006507.2:p.Gly374TrpfsTer7
NM_006516.4:c.1119dup MANE Select NP_006507.2:p.Gly374TrpfsTer7
Search 100 bp 5'
Search 100 bp 3'