Canonical Allele Identifier: CA2573053369
Gene: PTEN HGNC NCBI

Linked Data

ClinVar Variation Id: 1320095
ClinVar RCV Id: RCV001775268
dbSNP Id: rs2132277720
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Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.87958002_87958003del , CM000672.2:g.87958002_87958003del GRCh38
NC_000010.10:g.89717759_89717760del , CM000672.1:g.89717759_89717760del GRCh37
NC_000010.9:g.89707739_89707740del NCBI36
NG_007466.2:g.99564_99565del , LRG_311:g.99564_99565del

Transcript Alleles

HGVS Amino-acid Change
ENST00000700029.2:c.784_785del ENSP00000514759.2:p.Asn262GlnfsTer?
ENST00000710265.1:c.784_785del ENSP00000518161.1:p.Asn262GlnfsTer?
ENST00000472832.3:c.784_785del ENSP00000483066.2:p.Asn262GlnfsTer?
ENST00000688158.2:n.1519_1520del
ENST00000688922.2:c.*614_*615del ENSP00000508742.2:n.*614_*615del
ENST00000700021.1:c.739_740del ENSP00000514757.1:p.Asn247GlnfsTer?
ENST00000700022.1:c.*123_*124del ENSP00000514758.1:n.*123_*124del
ENST00000700023.1:n.1942_1943del
ENST00000700024.1:n.2176_2177del
ENST00000700025.1:n.1553_1554del
ENST00000700026.1:n.421_422del
ENST00000700029.1:c.618_619del
ENST00000706954.1:c.784_785del ENSP00000516674.1:p.Asn262GlnfsTer?
ENST00000706955.1:c.*819_*820del ENSP00000516675.1:n.*819_*820del
ENST00000686459.1:c.*370_*371del ENSP00000508909.1:n.*370_*371del
ENST00000688158.1:c.*895_*896del ENSP00000509254.1:n.*895_*896del
ENST00000688308.1:c.784_785del ENSP00000508752.1:p.Asn262GlnfsTer?
ENST00000688922.1:c.705_706del
ENST00000693560.1:c.1303_1304del ENSP00000509861.1:p.Asn435GlnfsTer?
ENST00000371953.8:c.784_785del MANE Select ENSP00000361021.3:p.Asn262GlnfsTer?
ENST00000371953.7:c.784_785del ENSP00000361021.3:p.Asn262GlnfsTer?
ENST00000472832.2:c.211_212del ENSP00000483066.1:p.Asn71GlnfsTer?
NM_000314.5:c.784_785del NP_000305.3:p.Asn262GlnfsTer?
NM_000314.6:c.784_785del NP_000305.3:p.Asn262GlnfsTer?
NM_001304717.2:c.1303_1304del NP_001291646.2:p.Asn435GlnfsTer?
NM_001304718.1:c.193_194del NP_001291647.1:p.Asn65GlnfsTer?
XM_006717926.2:c.739_740del XP_006717989.1:p.Asn247GlnfsTer?
XM_011539981.1:c.784_785del XP_011538283.1:p.Asn262GlnfsTer?
XM_011539982.1:c.688_689del XP_011538284.1:p.Asn230GlnfsTer?
XR_945791.1:n.1354_1355del
NM_000314.7:c.784_785del NP_000305.3:p.Asn262GlnfsTer?
NM_001304717.5:c.1303_1304del NP_001291646.4:p.Asn435GlnfsTer?
NM_001304718.2:c.193_194del NP_001291647.1:p.Asn65GlnfsTer?
NM_000314.8:c.784_785del MANE Select NP_000305.3:p.Asn262GlnfsTer?
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