Canonical Allele Identifier: CA2645198478

Gene: SLC2A1

Linked Data

• gnomAD v4: 1-42927862-CAG-C

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.42927863_42927864del , CM000663.2:g.42927863_42927864del	GRCh38
NC_000001.10:g.43393534_43393535del , CM000663.1:g.43393534_43393535del	GRCh37
NC_000001.9:g.43166121_43166122del	NCBI36
NG_008232.1:g.36313_36314del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000426263.10:c.1075-56_1075-55del MANE Select	ENSP00000416293.2:n.1075-56_1075-55del
ENST00000674545.1:n.1636_1637del
ENST00000674765.1:c.1030-1007_1030-1006del	ENSP00000501811.1:n.1030-1007_1030-1006del
ENST00000675112.1:n.1376-56_1376-55del
ENST00000676254.1:n.1524-56_1524-55del
ENST00000426263.7:c.1075-56_1075-55del	ENSP00000416293.2:n.1075-56_1075-55del
ENST00000475162.3:c.416-886_416-885del
ENST00000630287.2:c.*390-56_*390-55del	ENSP00000486694.1:n.*390-56_*390-55del
NM_006516.2:c.1075-56_1075-55del	NP_006507.2:n.1075-56_1075-55del
NM_006516.3:c.1075-56_1075-55del	NP_006507.2:n.1075-56_1075-55del
NM_006516.4:c.1075-56_1075-55del MANE Select	NP_006507.2:n.1075-56_1075-55del