Canonical Allele Identifier: CA16617145
Gene: SLC2A1 HGNC NCBI

Linked Data

ClinVar Variation Id: 421460
ClinVar RCV Id: RCV000483051
dbSNP Id: rs1064795152
MyVariant Identifiers: chr1:g.43394978del (hg19) chr1:g.42929307del (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.42929307del , CM000663.2:g.42929307del GRCh38
NC_000001.10:g.43394978del , CM000663.1:g.43394978del GRCh37
NC_000001.9:g.43167565del NCBI36
NG_008232.1:g.34870del

Transcript Alleles

HGVS Amino-acid change
ENST00000426263.10:c.875del MANE Select ENSP00000416293.2:p.Tyr292PhefsTer?
ENST00000674545.1:n.193del
ENST00000674765.1:c.875del ENSP00000501811.1:p.Tyr292PhefsTer?
ENST00000675112.1:n.1176del
ENST00000676254.1:n.1324del
ENST00000426263.7:c.875del ENSP00000416293.2:p.Tyr292PhefsTer?
ENST00000439722.2:c.754del ENSP00000395521.2:n.754del
ENST00000475162.3:c.415+1319del
ENST00000630287.2:c.*190del ENSP00000486694.1:n.*190del
NM_006516.2:c.875del NP_006507.2:p.Tyr292PhefsTer?
NM_006516.3:c.875del NP_006507.2:p.Tyr292PhefsTer?
NM_006516.4:c.875del MANE Select NP_006507.2:p.Tyr292PhefsTer?
Search 100 bp 5'
Search 100 bp 3'