Canonical Allele Identifier: CA2586966486

Gene: SLC2A1

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.42927804_42927808del , CM000663.2:g.42927804_42927808del	GRCh38
NC_000001.10:g.43393475_43393479del , CM000663.1:g.43393475_43393479del	GRCh37
NC_000001.9:g.43166062_43166066del	NCBI36
NG_008232.1:g.36370_36374del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000426263.10:c.1076_1080del MANE Select	ENSP00000416293.2:p.Glu359AlafsTer20
ENST00000674545.1:n.1693_1697del
ENST00000674765.1:c.1030-950_1030-946del	ENSP00000501811.1:n.1030-950_1030-946del
ENST00000675112.1:n.1377_1381del
ENST00000676254.1:n.1525_1529del
ENST00000426263.7:c.1076_1080del	ENSP00000416293.2:p.Glu359AlafsTer20
ENST00000475162.3:c.416-829_416-825del
ENST00000630287.2:c.*391_*395del	ENSP00000486694.1:n.*391_*395del
NM_006516.2:c.1076_1080del	NP_006507.2:p.Glu359AlafsTer20
NM_006516.3:c.1076_1080del	NP_006507.2:p.Glu359AlafsTer20
NM_006516.4:c.1076_1080del MANE Select	NP_006507.2:p.Glu359AlafsTer20