Canonical Allele Identifier: CA2586966479

Gene: SLC2A1

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.42927685_42927689dup , CM000663.2:g.42927685_42927689dup	GRCh38
NC_000001.10:g.43393356_43393360dup , CM000663.1:g.43393356_43393360dup	GRCh37
NC_000001.9:g.43165943_43165947dup	NCBI36
NG_008232.1:g.36488_36492dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000426263.10:c.1194_1198dup MANE Select	ENSP00000416293.2:p.Arg400LeufsTer?
ENST00000674545.1:n.1811_1815dup
ENST00000674765.1:c.1030-832_1030-828dup	ENSP00000501811.1:n.1030-832_1030-828dup
ENST00000675112.1:n.1495_1499dup
ENST00000676254.1:n.1643_1647dup
ENST00000426263.7:c.1194_1198dup	ENSP00000416293.2:p.Arg400LeufsTer?
ENST00000475162.3:c.416-711_416-707dup
ENST00000630287.2:c.*509_*513dup	ENSP00000486694.1:n.*509_*513dup
NM_006516.2:c.1194_1198dup	NP_006507.2:p.Arg400LeufsTer?
NM_006516.3:c.1194_1198dup	NP_006507.2:p.Arg400LeufsTer?
NM_006516.4:c.1194_1198dup MANE Select	NP_006507.2:p.Arg400LeufsTer?