Canonical Allele Identifier: CA2645198445

Gene: SLC2A1

Linked Data

• ClinVar Variation Id: 2920513
• ClinVar RCV Id: RCV003632970
• gnomAD v4: 1-42927817-G-GATGAC

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.42927818_42927822dup , CM000663.2:g.42927818_42927822dup	GRCh38
NC_000001.10:g.43393489_43393493dup , CM000663.1:g.43393489_43393493dup	GRCh37
NC_000001.9:g.43166076_43166080dup	NCBI36
NG_008232.1:g.36355_36359dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000426263.10:c.1075-14_1075-10dup MANE Select	ENSP00000416293.2:n.1075-14_1075-10dup
ENST00000674545.1:n.1678_1682dup
ENST00000674765.1:c.1030-965_1030-961dup	ENSP00000501811.1:n.1030-965_1030-961dup
ENST00000675112.1:n.1376-14_1376-10dup
ENST00000676254.1:n.1524-14_1524-10dup
ENST00000426263.7:c.1075-14_1075-10dup	ENSP00000416293.2:n.1075-14_1075-10dup
ENST00000475162.3:c.416-844_416-840dup
ENST00000630287.2:c.*390-14_*390-10dup	ENSP00000486694.1:n.*390-14_*390-10dup
NM_006516.2:c.1075-14_1075-10dup	NP_006507.2:n.1075-14_1075-10dup
NM_006516.3:c.1075-14_1075-10dup	NP_006507.2:n.1075-14_1075-10dup
NM_006516.4:c.1075-14_1075-10dup MANE Select	NP_006507.2:n.1075-14_1075-10dup