Canonical Allele Identifier: CA645553817
Gene: PTEN HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.87933113_87933121del , CM000672.2:g.87933113_87933121del GRCh38
NC_000010.10:g.89692870_89692878del , CM000672.1:g.89692870_89692878del GRCh37
NC_000010.9:g.89682850_89682858del NCBI36
NG_007466.2:g.74675_74683del , LRG_311:g.74675_74683del

Transcript Alleles

HGVS Amino-acid Change
ENST00000700029.2:c.354_362del ENSP00000514759.2:p.His118_Ala121delinsGln
ENST00000710265.1:c.354_362del ENSP00000518161.1:p.His118_Ala121delinsGln
ENST00000472832.3:c.354_362del ENSP00000483066.2:p.His118_Ala121delinsGln
ENST00000688158.2:n.1089_1097del
ENST00000688922.2:c.*184_*192del ENSP00000508742.2:n.*184_*192del
ENST00000700021.1:c.309_317del ENSP00000514757.1:p.His103_Ala106delinsGln
ENST00000700022.1:c.354_362del ENSP00000514758.1:p.His118_Ala121delinsGln
ENST00000700029.1:c.188_196del
ENST00000706954.1:c.354_362del ENSP00000516674.1:p.His118_Ala121delinsGln
ENST00000706955.1:c.*389_*397del ENSP00000516675.1:n.*389_*397del
ENST00000686459.1:c.354_362del ENSP00000508909.1:p.His118_Ala121delinsGln
ENST00000688158.1:c.*465_*473del ENSP00000509254.1:n.*465_*473del
ENST00000688308.1:c.354_362del ENSP00000508752.1:p.His118_Ala121delinsGln
ENST00000688922.1:c.275_283del
ENST00000693560.1:c.873_881del ENSP00000509861.1:p.His291_Ala294delinsGln
ENST00000371953.8:c.354_362del MANE Select ENSP00000361021.3:p.His118_Ala121delinsGln
ENST00000371953.7:c.354_362del ENSP00000361021.3:p.His118_Ala121delinsGln
ENST00000498703.1:n.180_188del
ENST00000610634.1:c.252_260del ENSP00000477517.1:p.His84_Ala87delinsGln
NM_000314.5:c.354_362del NP_000305.3:p.His118_Ala121delinsGln
NM_000314.6:c.354_362del NP_000305.3:p.His118_Ala121delinsGln
NM_001304717.2:c.873_881del NP_001291646.2:p.His291_Ala294delinsGln
NM_001304718.1:c.-397_-389del NP_001291647.1:n.-397_-389del
XM_006717926.2:c.309_317del XP_006717989.1:p.His103_Ala106delinsGln
XM_011539981.1:c.354_362del XP_011538283.1:p.His118_Ala121delinsGln
XM_011539982.1:c.258_266del XP_011538284.1:p.His86_Ala89delinsGln
XR_945789.1:n.1066_1074del
XR_945790.1:n.1066_1074del
XR_945791.1:n.1066_1074del
NM_000314.7:c.354_362del NP_000305.3:p.His118_Ala121delinsGln
NM_001304717.5:c.873_881del NP_001291646.4:p.His291_Ala294delinsGln
NM_001304718.2:c.-397_-389del NP_001291647.1:n.-397_-389del
NM_000314.8:c.354_362del MANE Select NP_000305.3:p.His118_Ala121delinsGln