Canonical Allele Identifier: CA1165412192
Gene: SLC2A1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.42929274_42929275delinsAC , CM000663.2:g.42929274_42929275delinsAC GRCh38
NC_000001.10:g.43394945_43394946delinsAC , CM000663.1:g.43394945_43394946delinsAC GRCh37
NC_000001.9:g.43167532_43167533delinsAC NCBI36
NG_008232.1:g.34902_34903delinsGT

Transcript Alleles

HGVS Amino-acid Change
ENST00000426263.10:c.907_908delinsGT MANE Select ENSP00000416293.2:p.Val303=
ENST00000674545.1:n.225_226delinsGT
ENST00000674765.1:c.907_908delinsGT ENSP00000501811.1:p.Val303=
ENST00000675112.1:n.1208_1209delinsGT
ENST00000676254.1:n.1356_1357delinsGT
ENST00000426263.7:c.907_908delinsGT ENSP00000416293.2:p.Val303=
ENST00000439722.2:c.786_787delinsGT ENSP00000395521.2:n.786_787delinsGT
ENST00000475162.3:c.415+1351_415+1352delinsGT
ENST00000630287.2:c.*222_*223delinsGT ENSP00000486694.1:n.*222_*223delinsGT
NM_006516.2:c.907_908delinsGT NP_006507.2:p.Val303=
NM_006516.3:c.907_908delinsGT NP_006507.2:p.Val303=
NM_006516.4:c.907_908delinsGT MANE Select NP_006507.2:p.Val303=