Canonical Allele Identifier: CA1165412168
Gene: SLC2A1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.42929206_42929209delinsTCAC , CM000663.2:g.42929206_42929209delinsTCAC GRCh38
NC_000001.10:g.43394877_43394880delinsTCAC , CM000663.1:g.43394877_43394880delinsTCAC GRCh37
NC_000001.9:g.43167464_43167467delinsTCAC NCBI36
NG_008232.1:g.34968_34971delinsGTGA

Transcript Alleles

HGVS Amino-acid Change
ENST00000426263.10:c.972+1_972+4delinsGTGA MANE Select ENSP00000416293.2:n.972+1_972+4delinsGTGA
ENST00000674545.1:n.291_294delinsGTGA
ENST00000674765.1:c.972+1_972+4delinsGTGA ENSP00000501811.1:n.972+1_972+4delinsGTGA
ENST00000675112.1:n.1273+1_1273+4delinsGTGA
ENST00000676254.1:n.1421+1_1421+4delinsGTGA
ENST00000426263.7:c.972+1_972+4delinsGTGA ENSP00000416293.2:n.972+1_972+4delinsGTGA
ENST00000439722.2:c.851+1_851+4delinsGTGA ENSP00000395521.2:n.851+1_851+4delinsGTGA
ENST00000475162.3:c.415+1417_415+1420delinsGTGA
ENST00000630287.2:c.*287+1_*287+4delinsGTGA ENSP00000486694.1:n.*287+1_*287+4delinsGTGA
NM_006516.2:c.972+1_972+4delinsGTGA NP_006507.2:n.972+1_972+4delinsGTGA
NM_006516.3:c.972+1_972+4delinsGTGA NP_006507.2:n.972+1_972+4delinsGTGA
NM_006516.4:c.972+1_972+4delinsGTGA MANE Select NP_006507.2:n.972+1_972+4delinsGTGA