Canonical Allele Identifier: CA2695200887
Gene: PTEN HGNC NCBI

Linked Data

ClinVar Variation Id: 2674411
ClinVar RCV Id: RCV003452607

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.87958002_87958006del , CM000672.2:g.87958002_87958006del GRCh38
NC_000010.10:g.89717759_89717763del , CM000672.1:g.89717759_89717763del GRCh37
NC_000010.9:g.89707739_89707743del NCBI36
NG_007466.2:g.99564_99568del , LRG_311:g.99564_99568del

Transcript Alleles

HGVS Amino-acid Change
ENST00000700029.2:c.784_788del ENSP00000514759.2:p.Asn262AspfsTer?
ENST00000710265.1:c.784_788del ENSP00000518161.1:p.Asn262AspfsTer?
ENST00000472832.3:c.784_788del ENSP00000483066.2:p.Asn262AspfsTer?
ENST00000688158.2:n.1519_1523del
ENST00000688922.2:c.*614_*618del ENSP00000508742.2:n.*614_*618del
ENST00000700021.1:c.739_743del ENSP00000514757.1:p.Asn247AspfsTer?
ENST00000700022.1:c.*123_*127del ENSP00000514758.1:n.*123_*127del
ENST00000700023.1:n.1942_1946del
ENST00000700024.1:n.2176_2180del
ENST00000700025.1:n.1553_1557del
ENST00000700026.1:n.421_425del
ENST00000700029.1:c.618_622del
ENST00000706954.1:c.784_788del ENSP00000516674.1:p.Asn262AspfsTer?
ENST00000706955.1:c.*819_*823del ENSP00000516675.1:n.*819_*823del
ENST00000686459.1:c.*370_*374del ENSP00000508909.1:n.*370_*374del
ENST00000688158.1:c.*895_*899del ENSP00000509254.1:n.*895_*899del
ENST00000688308.1:c.784_788del ENSP00000508752.1:p.Asn262AspfsTer?
ENST00000688922.1:c.705_709del
ENST00000693560.1:c.1303_1307del ENSP00000509861.1:p.Asn435AspfsTer?
ENST00000371953.8:c.784_788del MANE Select ENSP00000361021.3:p.Asn262AspfsTer?
ENST00000371953.7:c.784_788del ENSP00000361021.3:p.Asn262AspfsTer?
ENST00000472832.2:c.211_215del ENSP00000483066.1:p.Asn71AspfsTer?
NM_000314.5:c.784_788del NP_000305.3:p.Asn262AspfsTer?
NM_000314.6:c.784_788del NP_000305.3:p.Asn262AspfsTer?
NM_001304717.2:c.1303_1307del NP_001291646.2:p.Asn435AspfsTer?
NM_001304718.1:c.193_197del NP_001291647.1:p.Asn65AspfsTer?
XM_006717926.2:c.739_743del XP_006717989.1:p.Asn247AspfsTer?
XM_011539981.1:c.784_788del XP_011538283.1:p.Asn262AspfsTer?
XM_011539982.1:c.688_692del XP_011538284.1:p.Asn230AspfsTer?
XR_945791.1:n.1354_1358del
NM_000314.7:c.784_788del NP_000305.3:p.Asn262AspfsTer?
NM_001304717.5:c.1303_1307del NP_001291646.4:p.Asn435AspfsTer?
NM_001304718.2:c.193_197del NP_001291647.1:p.Asn65AspfsTer?
NM_000314.8:c.784_788del MANE Select NP_000305.3:p.Asn262AspfsTer?