Canonical Allele Identifier: CA2697547415
Gene: SLC2A10 HGNC NCBI

Linked Data

ClinVar Variation Id: 2691030
ClinVar RCV Id: RCV003486417

Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.46725672_46725684del , CM000682.2:g.46725672_46725684del GRCh38
NC_000020.10:g.45354311_45354323del , CM000682.1:g.45354311_45354323del GRCh37
NC_000020.9:g.44787718_44787730del NCBI36
NG_016284.1:g.21033_21045del

Transcript Alleles

HGVS Amino-acid Change
ENST00000359271.4:c.636_648del MANE Select ENSP00000352216.2:p.Arg213ProfsTer28
ENST00000359271.3:c.636_648del ENSP00000352216.2:p.Arg213ProfsTer28
NM_030777.3:c.636_648del NP_110404.1:p.Arg213ProfsTer28
XM_011529060.1:c.699_711del XP_011527362.1:p.Arg234ProfsTer28
XM_011529061.1:c.645_657del XP_011527363.1:p.Arg216ProfsTer28
XM_011529062.1:c.699_711del XP_011527364.1:p.Arg234ProfsTer28
XM_011529063.1:c.699_711del XP_011527365.1:p.Arg234ProfsTer28
XM_011529064.1:c.699_711del XP_011527366.1:p.Arg234ProfsTer28
XM_011529065.1:c.699_711del XP_011527367.1:p.Arg234ProfsTer28
XR_936641.1:n.835_847del
XM_011529060.2:c.699_711del XP_011527362.1:p.Arg234ProfsTer28
XM_011529061.2:c.645_657del XP_011527363.1:p.Arg216ProfsTer28
XM_011529062.2:c.699_711del XP_011527364.1:p.Arg234ProfsTer28
XM_011529063.2:c.699_711del XP_011527365.1:p.Arg234ProfsTer28
XM_011529064.2:c.699_711del XP_011527366.1:p.Arg234ProfsTer28
XM_011529065.2:c.699_711del XP_011527367.1:p.Arg234ProfsTer28
XM_017028087.2:c.636_648del XP_016883576.1:p.Arg213ProfsTer28
XR_936641.2:n.822_834del
NM_030777.4:c.636_648del MANE Select NP_110404.1:p.Arg213ProfsTer28