Canonical Allele Identifier: CA1165412153
Gene: SLC2A1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.42929183_42929184delinsTG , CM000663.2:g.42929183_42929184delinsTG GRCh38
NC_000001.10:g.43394854_43394855delinsTG , CM000663.1:g.43394854_43394855delinsTG GRCh37
NC_000001.9:g.43167441_43167442delinsTG NCBI36
NG_008232.1:g.34993_34994delinsCA

Transcript Alleles

HGVS Amino-acid Change
ENST00000426263.10:c.972+26_972+27delinsCA MANE Select ENSP00000416293.2:n.972+26_972+27delinsCA
ENST00000674545.1:n.316_317delinsCA
ENST00000674765.1:c.972+26_972+27delinsCA ENSP00000501811.1:n.972+26_972+27delinsCA
ENST00000675112.1:n.1273+26_1273+27delinsCA
ENST00000676254.1:n.1421+26_1421+27delinsCA
ENST00000426263.7:c.972+26_972+27delinsCA ENSP00000416293.2:n.972+26_972+27delinsCA
ENST00000439722.2:c.851+26_851+27delinsCA ENSP00000395521.2:n.851+26_851+27delinsCA
ENST00000475162.3:c.415+1442_415+1443delinsCA
ENST00000630287.2:c.*287+26_*287+27delinsCA ENSP00000486694.1:n.*287+26_*287+27delinsCA
NM_006516.2:c.972+26_972+27delinsCA NP_006507.2:n.972+26_972+27delinsCA
NM_006516.3:c.972+26_972+27delinsCA NP_006507.2:n.972+26_972+27delinsCA
NM_006516.4:c.972+26_972+27delinsCA MANE Select NP_006507.2:n.972+26_972+27delinsCA