Canonical Allele Identifier: CA2697558634
Gene: PTEN HGNC NCBI

Linked Data

ClinVar Variation Id: 2762612
ClinVar RCV Id: RCV003510186

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.87965279_87965282del , CM000672.2:g.87965279_87965282del GRCh38
NC_000010.10:g.89725036_89725039del , CM000672.1:g.89725036_89725039del GRCh37
NC_000010.9:g.89715016_89715019del NCBI36
NG_007466.2:g.106841_106844del , LRG_311:g.106841_106844del

Transcript Alleles

HGVS Amino-acid Change
ENST00000700029.2:c.1120-8_1120-5del ENSP00000514759.2:n.1120-8_1120-5del
ENST00000710265.1:c.*56-8_*56-5del ENSP00000518161.1:n.*56-8_*56-5del
ENST00000688158.2:n.1762-8_1762-5del
ENST00000688922.2:c.*857-8_*857-5del ENSP00000508742.2:n.*857-8_*857-5del
ENST00000700021.1:c.982-8_982-5del ENSP00000514757.1:n.982-8_982-5del
ENST00000700022.1:c.*366-8_*366-5del ENSP00000514758.1:n.*366-8_*366-5del
ENST00000700023.1:n.2185-8_2185-5del
ENST00000700024.1:n.2419-8_2419-5del
ENST00000706954.1:c.1027-8_1027-5del ENSP00000516674.1:n.1027-8_1027-5del
ENST00000706955.1:c.*1062-8_*1062-5del ENSP00000516675.1:n.*1062-8_*1062-5del
ENST00000686459.1:c.*613-8_*613-5del ENSP00000508909.1:n.*613-8_*613-5del
ENST00000688158.1:c.*1138-8_*1138-5del ENSP00000509254.1:n.*1138-8_*1138-5del
ENST00000688308.1:c.1027-8_1027-5del ENSP00000508752.1:n.1027-8_1027-5del
ENST00000688922.1:c.948-8_948-5del
ENST00000693560.1:c.1546-8_1546-5del ENSP00000509861.1:n.1546-8_1546-5del
ENST00000371953.8:c.1027-8_1027-5del MANE Select ENSP00000361021.3:n.1027-8_1027-5del
ENST00000371953.7:c.1027-8_1027-5del ENSP00000361021.3:n.1027-8_1027-5del
NM_000314.5:c.1027-8_1027-5del NP_000305.3:n.1027-8_1027-5del
NM_000314.6:c.1027-8_1027-5del NP_000305.3:n.1027-8_1027-5del
NM_001304717.2:c.1546-8_1546-5del NP_001291646.2:n.1546-8_1546-5del
NM_001304718.1:c.436-8_436-5del NP_001291647.1:n.436-8_436-5del
XM_006717926.2:c.982-8_982-5del XP_006717989.1:n.982-8_982-5del
XM_011539982.1:c.931-8_931-5del XP_011538284.1:n.931-8_931-5del
XR_945791.1:n.1597-8_1597-5del
NM_000314.7:c.1027-8_1027-5del NP_000305.3:n.1027-8_1027-5del
NM_001304717.5:c.1546-8_1546-5del NP_001291646.4:n.1546-8_1546-5del
NM_001304718.2:c.436-8_436-5del NP_001291647.1:n.436-8_436-5del
NM_000314.8:c.1027-8_1027-5del MANE Select NP_000305.3:n.1027-8_1027-5del