Canonical Allele Identifier: CA1165411545

Gene: SLC2A1

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.42927703_42927704delinsGT , CM000663.2:g.42927703_42927704delinsGT	GRCh38
NC_000001.10:g.43393374_43393375delinsGT , CM000663.1:g.43393374_43393375delinsGT	GRCh37
NC_000001.9:g.43165961_43165962delinsGT	NCBI36
NG_008232.1:g.36473_36474delinsAC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000426263.10:c.1179_1180delinsAC MANE Select	ENSP00000416293.2:p.Glu393=
ENST00000674545.1:n.1796_1797delinsAC
ENST00000674765.1:c.1030-847_1030-846delinsAC	ENSP00000501811.1:n.1030-847_1030-846delinsAC
ENST00000675112.1:n.1480_1481delinsAC
ENST00000676254.1:n.1628_1629delinsAC
ENST00000426263.7:c.1179_1180delinsAC	ENSP00000416293.2:p.Glu393=
ENST00000475162.3:c.416-726_416-725delinsAC
ENST00000630287.2:c.*494_*495delinsAC	ENSP00000486694.1:n.*494_*495delinsAC
NM_006516.2:c.1179_1180delinsAC	NP_006507.2:p.Glu393=
NM_006516.3:c.1179_1180delinsAC	NP_006507.2:p.Glu393=
NM_006516.4:c.1179_1180delinsAC MANE Select	NP_006507.2:p.Glu393=