Canonical Allele Identifier: CA891842089
Gene: PTEN HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.87961006_87961015del , CM000672.2:g.87961006_87961015del GRCh38
NC_000010.10:g.89720763_89720772del , CM000672.1:g.89720763_89720772del GRCh37
NC_000010.9:g.89710743_89710752del NCBI36
NG_007466.2:g.102568_102577del , LRG_311:g.102568_102577del

Transcript Alleles

HGVS Amino-acid Change
ENST00000700029.2:c.1007_1016del ENSP00000514759.2:p.Ser336MetfsTer9
ENST00000710265.1:c.914_923del ENSP00000518161.1:p.Ser305MetfsTer9
ENST00000472832.3:c.914_923del ENSP00000483066.2:p.Ser305MetfsTer9
ENST00000688158.2:n.1649_1658del
ENST00000688922.2:c.*744_*753del ENSP00000508742.2:n.*744_*753del
ENST00000700021.1:c.869_878del ENSP00000514757.1:p.Ser290MetfsTer9
ENST00000700022.1:c.*253_*262del ENSP00000514758.1:n.*253_*262del
ENST00000700023.1:n.2072_2081del
ENST00000700024.1:n.2306_2315del
ENST00000700025.1:n.1683_1692del
ENST00000700026.1:n.551_560del
ENST00000706954.1:c.914_923del ENSP00000516674.1:p.Ser305MetfsTer9
ENST00000706955.1:c.*949_*958del ENSP00000516675.1:n.*949_*958del
ENST00000686459.1:c.*500_*509del ENSP00000508909.1:n.*500_*509del
ENST00000688158.1:c.*1025_*1034del ENSP00000509254.1:n.*1025_*1034del
ENST00000688308.1:c.914_923del ENSP00000508752.1:p.Ser305MetfsTer9
ENST00000688922.1:c.835_844del
ENST00000693560.1:c.1433_1442del ENSP00000509861.1:p.Ser478MetfsTer9
ENST00000371953.8:c.914_923del MANE Select ENSP00000361021.3:p.Ser305MetfsTer9
ENST00000371953.7:c.914_923del ENSP00000361021.3:p.Ser305MetfsTer9
ENST00000472832.2:c.341_350del ENSP00000483066.1:p.Ser114MetfsTer9
NM_000314.5:c.914_923del NP_000305.3:p.Ser305MetfsTer9
NM_000314.6:c.914_923del NP_000305.3:p.Ser305MetfsTer9
NM_001304717.2:c.1433_1442del NP_001291646.2:p.Ser478MetfsTer9
NM_001304718.1:c.323_332del NP_001291647.1:p.Ser108MetfsTer9
XM_006717926.2:c.869_878del XP_006717989.1:p.Ser290MetfsTer9
XM_011539981.1:c.914_923del XP_011538283.1:p.Ser305MetfsTer9
XM_011539982.1:c.818_827del XP_011538284.1:p.Ser273MetfsTer9
XR_945791.1:n.1484_1493del
NM_000314.7:c.914_923del NP_000305.3:p.Ser305MetfsTer9
NM_001304717.5:c.1433_1442del NP_001291646.4:p.Ser478MetfsTer9
NM_001304718.2:c.323_332del NP_001291647.1:p.Ser108MetfsTer9
NM_000314.8:c.914_923del MANE Select NP_000305.3:p.Ser305MetfsTer9