Canonical Allele Identifier: CA1165412779
Gene: SLC2A1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.42930743_42930744delinsGC , CM000663.2:g.42930743_42930744delinsGC GRCh38
NC_000001.10:g.43396414_43396415delinsGC , CM000663.1:g.43396414_43396415delinsGC GRCh37
NC_000001.9:g.43169001_43169002delinsGC NCBI36
NG_008232.1:g.33433_33434delinsGC

Transcript Alleles

HGVS Amino-acid Change
ENST00000426263.10:c.398_399delinsGC MANE Select ENSP00000416293.2:p.Cys133=
ENST00000674765.1:c.398_399delinsGC ENSP00000501811.1:p.Cys133=
ENST00000675112.1:n.421_422delinsGC
ENST00000676254.1:n.847_848delinsGC
ENST00000372500.4:c.302_303delinsGC ENSP00000361578.4:p.Cys101=
ENST00000426263.7:c.398_399delinsGC ENSP00000416293.2:p.Cys133=
ENST00000439722.2:c.277_278delinsGC ENSP00000395521.2:n.277_278delinsGC
ENST00000475162.3:c.297_298delinsGC
ENST00000625233.2:n.606_607delinsGC
ENST00000630287.2:c.398_399delinsGC ENSP00000486694.1:p.Cys133=
NM_006516.2:c.398_399delinsGC NP_006507.2:p.Cys133=
NM_006516.3:c.398_399delinsGC NP_006507.2:p.Cys133=
NM_006516.4:c.398_399delinsGC MANE Select NP_006507.2:p.Cys133=