Canonical Allele Identifier: CA2573132286

Gene: SLC2A1

Linked Data

• ClinVar Variation Id: 1686199
• ClinVar RCV Id: RCV002246712
• dbSNP Id: rs2124446305

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.42927669_42927678dup , CM000663.2:g.42927669_42927678dup	GRCh38
NC_000001.10:g.43393340_43393349dup , CM000663.1:g.43393340_43393349dup	GRCh37
NC_000001.9:g.43165927_43165936dup	NCBI36
NG_008232.1:g.36500_36509dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000426263.10:c.1206_1215dup MANE Select	ENSP00000416293.2:p.Val406CysfsTer?
ENST00000674545.1:n.1823_1832dup
ENST00000674765.1:c.1030-820_1030-811dup	ENSP00000501811.1:n.1030-820_1030-811dup
ENST00000675112.1:n.1507_1516dup
ENST00000676254.1:n.1655_1664dup
ENST00000426263.7:c.1206_1215dup	ENSP00000416293.2:p.Val406CysfsTer?
ENST00000475162.3:c.416-699_416-690dup
ENST00000630287.2:c.*521_*530dup	ENSP00000486694.1:n.*521_*530dup
NM_006516.2:c.1206_1215dup	NP_006507.2:p.Val406CysfsTer?
NM_006516.3:c.1206_1215dup	NP_006507.2:p.Val406CysfsTer?
NM_006516.4:c.1206_1215dup MANE Select	NP_006507.2:p.Val406CysfsTer?