Canonical Allele Identifier: CA2580617970

Gene: SLC2A1

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.42927188_42927190del , CM000663.2:g.42927188_42927190del	GRCh38
NC_000001.10:g.43392859_43392861del , CM000663.1:g.43392859_43392861del	GRCh37
NC_000001.9:g.43165446_43165448del	NCBI36
NG_008232.1:g.36990_36992del

Transcript Alleles

HGVS	Amino-acid Change
NM_006516.4:c.1333_1335del MANE Select	NP_006507.2:p.Phe445del
ENST00000426263.10:c.1333_1335del MANE Select	ENSP00000416293.2:p.Phe445del
NM_006516.2:c.1333_1335del	NP_006507.2:p.Phe445del
NM_006516.3:c.1333_1335del	NP_006507.2:p.Phe445del
ENST00000426263.7:c.1333_1335del	ENSP00000416293.2:p.Phe445del
ENST00000475162.3:c.416-209_416-207del
ENST00000630287.2:c.*648_*650del	ENSP00000486694.1:n.*648_*650del
ENST00000674545.1:n.1950_1952del
ENST00000674765.1:c.1030-330_1030-328del	ENSP00000501811.1:n.1030-330_1030-328del
ENST00000675112.1:n.1634_1636del
ENST00000676254.1:n.1782_1784del