Canonical Allele Identifier: CA1165411574
Gene: SLC2A1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.42927793_42927794delinsTC , CM000663.2:g.42927793_42927794delinsTC GRCh38
NC_000001.10:g.43393464_43393465delinsTC , CM000663.1:g.43393464_43393465delinsTC GRCh37
NC_000001.9:g.43166051_43166052delinsTC NCBI36
NG_008232.1:g.36383_36384delinsGA

Transcript Alleles

HGVS Amino-acid Change
ENST00000426263.10:c.1089_1090delinsGA MANE Select ENSP00000416293.2:p.Trp363=
ENST00000674545.1:n.1706_1707delinsGA
ENST00000674765.1:c.1030-937_1030-936delinsGA ENSP00000501811.1:n.1030-937_1030-936delinsGA
ENST00000675112.1:n.1390_1391delinsGA
ENST00000676254.1:n.1538_1539delinsGA
ENST00000426263.7:c.1089_1090delinsGA ENSP00000416293.2:p.Trp363=
ENST00000475162.3:c.416-816_416-815delinsGA
ENST00000630287.2:c.*404_*405delinsGA ENSP00000486694.1:n.*404_*405delinsGA
NM_006516.2:c.1089_1090delinsGA NP_006507.2:p.Trp363=
NM_006516.3:c.1089_1090delinsGA NP_006507.2:p.Trp363=
NM_006516.4:c.1089_1090delinsGA MANE Select NP_006507.2:p.Trp363=