Canonical Allele Identifier: CA2499220474
Gene: PTEN HGNC NCBI

Linked Data

ClinVar Variation Id: 1068027
ClinVar RCV Id: RCV001379456
dbSNP Id: rs2132289978

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.87965397_87965400del , CM000672.2:g.87965397_87965400del GRCh38
NC_000010.10:g.89725154_89725157del , CM000672.1:g.89725154_89725157del GRCh37
NC_000010.9:g.89715134_89715137del NCBI36
NG_007466.2:g.106959_106962del , LRG_311:g.106959_106962del

Transcript Alleles

HGVS Amino-acid Change
ENST00000700029.2:c.1230_1233del ENSP00000514759.2:p.Tyr410Ter
ENST00000710265.1:c.*166_*169del ENSP00000518161.1:n.*166_*169del
ENST00000688158.2:n.1872_1875del
ENST00000688922.2:c.*967_*970del ENSP00000508742.2:n.*967_*970del
ENST00000700021.1:c.1092_1095del ENSP00000514757.1:p.Tyr364Ter
ENST00000700022.1:c.*476_*479del ENSP00000514758.1:n.*476_*479del
ENST00000700023.1:n.2295_2298del
ENST00000700024.1:n.2529_2532del
ENST00000706954.1:c.1137_1140del ENSP00000516674.1:p.Tyr379Ter
ENST00000706955.1:c.*1172_*1175del ENSP00000516675.1:n.*1172_*1175del
ENST00000686459.1:c.*723_*726del ENSP00000508909.1:n.*723_*726del
ENST00000688158.1:c.*1248_*1251del ENSP00000509254.1:n.*1248_*1251del
ENST00000688308.1:c.1137_1140del ENSP00000508752.1:p.Tyr379Ter
ENST00000688922.1:c.1058_1061del
ENST00000693560.1:c.1656_1659del ENSP00000509861.1:p.Tyr552Ter
ENST00000371953.8:c.1137_1140del MANE Select ENSP00000361021.3:p.Tyr379Ter
ENST00000371953.7:c.1137_1140del ENSP00000361021.3:p.Tyr379Ter
NM_000314.5:c.1137_1140del NP_000305.3:p.Tyr379Ter
NM_000314.6:c.1137_1140del NP_000305.3:p.Tyr379Ter
NM_001304717.2:c.1656_1659del NP_001291646.2:p.Tyr552Ter
NM_001304718.1:c.546_549del NP_001291647.1:p.Tyr182Ter
XM_006717926.2:c.1092_1095del XP_006717989.1:p.Tyr364Ter
XM_011539982.1:c.1041_1044del XP_011538284.1:p.Tyr347Ter
XR_945791.1:n.1707_1710del
NM_000314.7:c.1137_1140del NP_000305.3:p.Tyr379Ter
NM_001304717.5:c.1656_1659del NP_001291646.4:p.Tyr552Ter
NM_001304718.2:c.546_549del NP_001291647.1:p.Tyr182Ter
NM_000314.8:c.1137_1140del MANE Select NP_000305.3:p.Tyr379Ter