Canonical Allele Identifier: CA2579986006
Gene: PTEN HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.87965439_87965441del , CM000672.2:g.87965439_87965441del GRCh38
NC_000010.10:g.89725196_89725198del , CM000672.1:g.89725196_89725198del GRCh37
NC_000010.9:g.89715176_89715178del NCBI36
NG_007466.2:g.107001_107003del , LRG_311:g.107001_107003del

Transcript Alleles

HGVS Amino-acid Change
ENST00000700029.2:c.1272_1274del ENSP00000514759.2:p.Asp424del
ENST00000710265.1:c.*208_*210del ENSP00000518161.1:n.*208_*210del
ENST00000688158.2:n.1914_1916del
ENST00000688922.2:c.*1009_*1011del ENSP00000508742.2:n.*1009_*1011del
ENST00000700021.1:c.1134_1136del ENSP00000514757.1:p.Asp378del
ENST00000700022.1:c.*518_*520del ENSP00000514758.1:n.*518_*520del
ENST00000700023.1:n.2337_2339del
ENST00000700024.1:n.2571_2573del
ENST00000706954.1:c.1179_1181del ENSP00000516674.1:p.Asp393del
ENST00000706955.1:c.*1214_*1216del ENSP00000516675.1:n.*1214_*1216del
ENST00000686459.1:c.*765_*767del ENSP00000508909.1:n.*765_*767del
ENST00000688158.1:c.*1290_*1292del ENSP00000509254.1:n.*1290_*1292del
ENST00000688308.1:c.1179_1181del ENSP00000508752.1:p.Asp393del
ENST00000688922.1:c.1100_1102del
ENST00000693560.1:c.1698_1700del ENSP00000509861.1:p.Asp566del
ENST00000371953.8:c.1179_1181del MANE Select ENSP00000361021.3:p.Asp393del
ENST00000371953.7:c.1179_1181del ENSP00000361021.3:p.Asp393del
NM_000314.5:c.1179_1181del NP_000305.3:p.Asp393del
NM_000314.6:c.1179_1181del NP_000305.3:p.Asp393del
NM_001304717.2:c.1698_1700del NP_001291646.2:p.Asp566del
NM_001304718.1:c.588_590del NP_001291647.1:p.Asp196del
XM_006717926.2:c.1134_1136del XP_006717989.1:p.Asp378del
XM_011539982.1:c.1083_1085del XP_011538284.1:p.Asp361del
XR_945791.1:n.1749_1751del
NM_000314.7:c.1179_1181del NP_000305.3:p.Asp393del
NM_001304717.5:c.1698_1700del NP_001291646.4:p.Asp566del
NM_001304718.2:c.588_590del NP_001291647.1:p.Asp196del
NM_000314.8:c.1179_1181del MANE Select NP_000305.3:p.Asp393del