Canonical Allele Identifier: CA16043368
Gene: SLC2A1 HGNC NCBI

Linked Data

ClinVar Variation Id: 373993
ClinVar RCV Id: RCV000415305
dbSNP Id: rs1057518821

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.42930674dup , CM000663.2:g.42930674dup GRCh38
NC_000001.10:g.43396345dup , CM000663.1:g.43396345dup GRCh37
NC_000001.9:g.43168932dup NCBI36
NG_008232.1:g.33505dup

Transcript Alleles

HGVS Amino-acid change
ENST00000426263.10:c.470dup MANE Select ENSP00000416293.2:p.Thr158HisfsTer?
ENST00000674765.1:c.470dup ENSP00000501811.1:p.Thr158HisfsTer?
ENST00000675112.1:n.493dup
ENST00000676254.1:n.919dup
ENST00000426263.7:c.470dup ENSP00000416293.2:p.Thr158HisfsTer?
ENST00000439722.2:c.349dup ENSP00000395521.2:n.349dup
ENST00000475162.3:c.369dup
ENST00000625233.2:n.678dup
ENST00000630287.2:c.470dup ENSP00000486694.1:p.Thr158HisfsTer?
NM_006516.2:c.470dup NP_006507.2:p.Thr158HisfsTer?
NM_006516.3:c.470dup NP_006507.2:p.Thr158HisfsTer?
NM_006516.4:c.470dup MANE Select NP_006507.2:p.Thr158HisfsTer?