Canonical Allele Identifier: CA2580062816

Gene: SLC2A1

Linked Data

• ClinVar Variation Id: 1879085
• ClinVar RCV Id: RCV002511584

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.42927778_42927779dup , CM000663.2:g.42927778_42927779dup	GRCh38
NC_000001.10:g.43393449_43393450dup , CM000663.1:g.43393449_43393450dup	GRCh37
NC_000001.9:g.43166036_43166037dup	NCBI36
NG_008232.1:g.36398_36399dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000426263.10:c.1104_1105dup MANE Select	ENSP00000416293.2:p.Ile369ThrfsTer?
ENST00000674545.1:n.1721_1722dup
ENST00000674765.1:c.1030-922_1030-921dup	ENSP00000501811.1:n.1030-922_1030-921dup
ENST00000675112.1:n.1405_1406dup
ENST00000676254.1:n.1553_1554dup
ENST00000426263.7:c.1104_1105dup	ENSP00000416293.2:p.Ile369ThrfsTer?
ENST00000475162.3:c.416-801_416-800dup
ENST00000630287.2:c.*419_*420dup	ENSP00000486694.1:n.*419_*420dup
NM_006516.2:c.1104_1105dup	NP_006507.2:p.Ile369ThrfsTer?
NM_006516.3:c.1104_1105dup	NP_006507.2:p.Ile369ThrfsTer?
NM_006516.4:c.1104_1105dup MANE Select	NP_006507.2:p.Ile369ThrfsTer?