Canonical Allele Identifier: CA1148224247

Gene: SLC2A1

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.42927794_42927795delinsCC , CM000663.2:g.42927794_42927795delinsCC	GRCh38
NC_000001.10:g.43393465_43393466delinsCC , CM000663.1:g.43393465_43393466delinsCC	GRCh37
NC_000001.9:g.43166052_43166053delinsCC	NCBI36
NG_008232.1:g.36382_36383delinsGG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000426263.10:c.1088_1089delinsGG MANE Select	ENSP00000416293.2:p.Trp363=
ENST00000674545.1:n.1705_1706delinsGG
ENST00000674765.1:c.1030-938_1030-937delinsGG	ENSP00000501811.1:n.1030-938_1030-937delinsGG
ENST00000675112.1:n.1389_1390delinsGG
ENST00000676254.1:n.1537_1538delinsGG
ENST00000426263.7:c.1088_1089delinsGG	ENSP00000416293.2:p.Trp363=
ENST00000475162.3:c.416-817_416-816delinsGG
ENST00000630287.2:c.*403_*404delinsGG	ENSP00000486694.1:n.*403_*404delinsGG
NM_006516.2:c.1088_1089delinsGG	NP_006507.2:p.Trp363=
NM_006516.3:c.1088_1089delinsGG	NP_006507.2:p.Trp363=
NM_006516.4:c.1088_1089delinsGG MANE Select	NP_006507.2:p.Trp363=