Canonical Allele Identifier: CA2366796935
Gene: SLC2A10 HGNC NCBI

Linked Data

ClinVar Variation Id: 1027638
ClinVar RCV Id: RCV001328465
dbSNP Id: rs1980007276

Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.46726968_46726969del , CM000682.2:g.46726968_46726969del GRCh38
NC_000020.10:g.45355607_45355608del , CM000682.1:g.45355607_45355608del GRCh37
NC_000020.9:g.44789014_44789015del NCBI36
NG_016284.1:g.22329_22330del

Transcript Alleles

HGVS Amino-acid Change
ENST00000359271.4:c.1393_1394del MANE Select ENSP00000352216.2:p.Ser465LeufsTer?
ENST00000359271.3:c.1393_1394del ENSP00000352216.2:p.Ser465LeufsTer?
NM_030777.3:c.1393_1394del NP_110404.1:p.Ser465LeufsTer?
XM_011529060.1:c.1456_1457del XP_011527362.1:p.Ser486LeufsTer?
XM_011529061.1:c.1402_1403del XP_011527363.1:p.Ser468LeufsTer?
XM_011529062.1:c.1505_1506del XP_011527364.1:p.Leu502ProfsTer?
XM_011529063.1:c.1456_1457del XP_011527365.1:p.Ser486LeufsTer6
XM_011529064.1:c.1505_1506del XP_011527366.1:p.Leu502ProfsTer?
XM_011529065.1:c.1456_1457del XP_011527367.1:p.Ser486LeufsTer?
XR_936641.1:n.1641_1642del
XM_011529060.2:c.1456_1457del XP_011527362.1:p.Ser486LeufsTer?
XM_011529061.2:c.1402_1403del XP_011527363.1:p.Ser468LeufsTer?
XM_011529062.2:c.1505_1506del XP_011527364.1:p.Leu502ProfsTer?
XM_011529063.2:c.1456_1457del XP_011527365.1:p.Ser486LeufsTer6
XM_011529064.2:c.1505_1506del XP_011527366.1:p.Leu502ProfsTer?
XM_011529065.2:c.1456_1457del XP_011527367.1:p.Ser486LeufsTer?
XM_017028087.2:c.1393_1394del XP_016883576.1:p.Ser465LeufsTer?
XR_936641.2:n.1628_1629del
NM_030777.4:c.1393_1394del MANE Select NP_110404.1:p.Ser465LeufsTer?