Canonical Allele Identifier: CA891839866
Gene: PTEN HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.87957963_87957965delinsTAA , CM000672.2:g.87957963_87957965delinsTAA GRCh38
NC_000010.10:g.89717720_89717722delinsTAA , CM000672.1:g.89717720_89717722delinsTAA GRCh37
NC_000010.9:g.89707700_89707702delinsTAA NCBI36
NG_007466.2:g.99525_99527delinsTAA , LRG_311:g.99525_99527delinsTAA

Transcript Alleles

HGVS Amino-acid Change
ENST00000700029.2:c.745_747delinsTAA ENSP00000514759.2:p.Val249Ter
ENST00000710265.1:c.745_747delinsTAA ENSP00000518161.1:p.Val249Ter
ENST00000472832.3:c.745_747delinsTAA ENSP00000483066.2:p.Val249Ter
ENST00000688158.2:n.1480_1482delinsTAA
ENST00000688922.2:c.*575_*577delinsTAA ENSP00000508742.2:n.*575_*577delinsTAA
ENST00000700021.1:c.700_702delinsTAA ENSP00000514757.1:p.Val234Ter
ENST00000700022.1:c.*84_*86delinsTAA ENSP00000514758.1:n.*84_*86delinsTAA
ENST00000700023.1:n.1903_1905delinsTAA
ENST00000700024.1:n.2137_2139delinsTAA
ENST00000700025.1:n.1514_1516delinsTAA
ENST00000700026.1:n.382_384delinsTAA
ENST00000700029.1:c.579_581delinsTAA
ENST00000706954.1:c.745_747delinsTAA ENSP00000516674.1:p.Val249Ter
ENST00000706955.1:c.*780_*782delinsTAA ENSP00000516675.1:n.*780_*782delinsTAA
ENST00000686459.1:c.*331_*333delinsTAA ENSP00000508909.1:n.*331_*333delinsTAA
ENST00000688158.1:c.*856_*858delinsTAA ENSP00000509254.1:n.*856_*858delinsTAA
ENST00000688308.1:c.745_747delinsTAA ENSP00000508752.1:p.Val249Ter
ENST00000688922.1:c.666_668delinsTAA
ENST00000693560.1:c.1264_1266delinsTAA ENSP00000509861.1:p.Val422Ter
ENST00000371953.8:c.745_747delinsTAA MANE Select ENSP00000361021.3:p.Val249Ter
ENST00000371953.7:c.745_747delinsTAA ENSP00000361021.3:p.Val249Ter
ENST00000472832.2:c.172_174delinsTAA ENSP00000483066.1:p.Val58Ter
NM_000314.5:c.745_747delinsTAA NP_000305.3:p.Val249Ter
NM_000314.6:c.745_747delinsTAA NP_000305.3:p.Val249Ter
NM_001304717.2:c.1264_1266delinsTAA NP_001291646.2:p.Val422Ter
NM_001304718.1:c.154_156delinsTAA NP_001291647.1:p.Val52Ter
XM_006717926.2:c.700_702delinsTAA XP_006717989.1:p.Val234Ter
XM_011539981.1:c.745_747delinsTAA XP_011538283.1:p.Val249Ter
XM_011539982.1:c.649_651delinsTAA XP_011538284.1:p.Val217Ter
XR_945791.1:n.1315_1317delinsTAA
NM_000314.7:c.745_747delinsTAA NP_000305.3:p.Val249Ter
NM_001304717.5:c.1264_1266delinsTAA NP_001291646.4:p.Val422Ter
NM_001304718.2:c.154_156delinsTAA NP_001291647.1:p.Val52Ter
NM_000314.8:c.745_747delinsTAA MANE Select NP_000305.3:p.Val249Ter