Canonical Allele Identifier: CA2695200984
Gene: PTEN HGNC NCBI

Linked Data

ClinVar Variation Id: 2673955
ClinVar RCV Id: RCV003450563

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.87965283_87965285delinsGTC , CM000672.2:g.87965283_87965285delinsGTC GRCh38
NC_000010.10:g.89725040_89725042delinsGTC , CM000672.1:g.89725040_89725042delinsGTC GRCh37
NC_000010.9:g.89715020_89715022delinsGTC NCBI36
NG_007466.2:g.106845_106847delinsGTC , LRG_311:g.106845_106847delinsGTC

Transcript Alleles

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