Canonical Allele Identifier: CA2580062812

Gene: SLC2A1

Linked Data

• ClinVar Variation Id: 2430183
• ClinVar RCV Id: RCV003128185

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.42927742del , CM000663.2:g.42927742del	GRCh38
NC_000001.10:g.43393413del , CM000663.1:g.43393413del	GRCh37
NC_000001.9:g.43166000del	NCBI36
NG_008232.1:g.36435del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000426263.10:c.1141del MANE Select	ENSP00000416293.2:p.Val381TrpfsTer?
ENST00000674545.1:n.1758del
ENST00000674765.1:c.1030-885del	ENSP00000501811.1:n.1030-885del
ENST00000675112.1:n.1442del
ENST00000676254.1:n.1590del
ENST00000426263.7:c.1141del	ENSP00000416293.2:p.Val381TrpfsTer?
ENST00000475162.3:c.416-764del
ENST00000630287.2:c.*456del	ENSP00000486694.1:n.*456del
NM_006516.2:c.1141del	NP_006507.2:p.Val381TrpfsTer?
NM_006516.3:c.1141del	NP_006507.2:p.Val381TrpfsTer?
NM_006516.4:c.1141del MANE Select	NP_006507.2:p.Val381TrpfsTer?