Canonical Allele Identifier: CA2580062770

Gene: SLC2A1

Linked Data

• ClinVar Variation Id: 1705839
• ClinVar RCV Id: RCV002284149

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.42929256del , CM000663.2:g.42929256del	GRCh38
NC_000001.10:g.43394927del , CM000663.1:g.43394927del	GRCh37
NC_000001.9:g.43167514del	NCBI36
NG_008232.1:g.34922del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000426263.10:c.927del MANE Select	ENSP00000416293.2:p.Thr310ProfsTer?
ENST00000674545.1:n.245del
ENST00000674765.1:c.927del	ENSP00000501811.1:p.Thr310ProfsTer?
ENST00000675112.1:n.1228del
ENST00000676254.1:n.1376del
ENST00000426263.7:c.927del	ENSP00000416293.2:p.Thr310ProfsTer?
ENST00000439722.2:c.806del	ENSP00000395521.2:n.806del
ENST00000475162.3:c.415+1371del
ENST00000630287.2:c.*242del	ENSP00000486694.1:n.*242del
NM_006516.2:c.927del	NP_006507.2:p.Thr310ProfsTer?
NM_006516.3:c.927del	NP_006507.2:p.Thr310ProfsTer?
NM_006516.4:c.927del MANE Select	NP_006507.2:p.Thr310ProfsTer?