Canonical Allele Identifier: CA1165412174
Gene: SLC2A1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.42929214_42929216delinsACG , CM000663.2:g.42929214_42929216delinsACG GRCh38
NC_000001.10:g.43394885_43394887delinsACG , CM000663.1:g.43394885_43394887delinsACG GRCh37
NC_000001.9:g.43167472_43167474delinsACG NCBI36
NG_008232.1:g.34961_34963delinsCGT

Transcript Alleles

HGVS Amino-acid Change
ENST00000426263.10:c.966_968delinsCGT MANE Select ENSP00000416293.2:p.Val322=
ENST00000674545.1:n.284_286delinsCGT
ENST00000674765.1:c.966_968delinsCGT ENSP00000501811.1:p.Val322=
ENST00000675112.1:n.1267_1269delinsCGT
ENST00000676254.1:n.1415_1417delinsCGT
ENST00000426263.7:c.966_968delinsCGT ENSP00000416293.2:p.Val322=
ENST00000439722.2:c.845_847delinsCGT ENSP00000395521.2:n.845_847delinsCGT
ENST00000475162.3:c.415+1410_415+1412delinsCGT
ENST00000630287.2:c.*281_*283delinsCGT ENSP00000486694.1:n.*281_*283delinsCGT
NM_006516.2:c.966_968delinsCGT NP_006507.2:p.Val322=
NM_006516.3:c.966_968delinsCGT NP_006507.2:p.Val322=
NM_006516.4:c.966_968delinsCGT MANE Select NP_006507.2:p.Val322=