Canonical Allele Identifier: CA891839873
Gene: PTEN HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.87957963_87957965delinsTAT , CM000672.2:g.87957963_87957965delinsTAT GRCh38
NC_000010.10:g.89717720_89717722delinsTAT , CM000672.1:g.89717720_89717722delinsTAT GRCh37
NC_000010.9:g.89707700_89707702delinsTAT NCBI36
NG_007466.2:g.99525_99527delinsTAT , LRG_311:g.99525_99527delinsTAT

Transcript Alleles

HGVS Amino-acid Change
ENST00000700029.2:c.745_747delinsTAT ENSP00000514759.2:p.Val249Tyr
ENST00000710265.1:c.745_747delinsTAT ENSP00000518161.1:p.Val249Tyr
ENST00000472832.3:c.745_747delinsTAT ENSP00000483066.2:p.Val249Tyr
ENST00000688158.2:n.1480_1482delinsTAT
ENST00000688922.2:c.*575_*577delinsTAT ENSP00000508742.2:n.*575_*577delinsTAT
ENST00000700021.1:c.700_702delinsTAT ENSP00000514757.1:p.Val234Tyr
ENST00000700022.1:c.*84_*86delinsTAT ENSP00000514758.1:n.*84_*86delinsTAT
ENST00000700023.1:n.1903_1905delinsTAT
ENST00000700024.1:n.2137_2139delinsTAT
ENST00000700025.1:n.1514_1516delinsTAT
ENST00000700026.1:n.382_384delinsTAT
ENST00000700029.1:c.579_581delinsTAT
ENST00000706954.1:c.745_747delinsTAT ENSP00000516674.1:p.Val249Tyr
ENST00000706955.1:c.*780_*782delinsTAT ENSP00000516675.1:n.*780_*782delinsTAT
ENST00000686459.1:c.*331_*333delinsTAT ENSP00000508909.1:n.*331_*333delinsTAT
ENST00000688158.1:c.*856_*858delinsTAT ENSP00000509254.1:n.*856_*858delinsTAT
ENST00000688308.1:c.745_747delinsTAT ENSP00000508752.1:p.Val249Tyr
ENST00000688922.1:c.666_668delinsTAT
ENST00000693560.1:c.1264_1266delinsTAT ENSP00000509861.1:p.Val422Tyr
ENST00000371953.8:c.745_747delinsTAT MANE Select ENSP00000361021.3:p.Val249Tyr
ENST00000371953.7:c.745_747delinsTAT ENSP00000361021.3:p.Val249Tyr
ENST00000472832.2:c.172_174delinsTAT ENSP00000483066.1:p.Val58Tyr
NM_000314.5:c.745_747delinsTAT NP_000305.3:p.Val249Tyr
NM_000314.6:c.745_747delinsTAT NP_000305.3:p.Val249Tyr
NM_001304717.2:c.1264_1266delinsTAT NP_001291646.2:p.Val422Tyr
NM_001304718.1:c.154_156delinsTAT NP_001291647.1:p.Val52Tyr
XM_006717926.2:c.700_702delinsTAT XP_006717989.1:p.Val234Tyr
XM_011539981.1:c.745_747delinsTAT XP_011538283.1:p.Val249Tyr
XM_011539982.1:c.649_651delinsTAT XP_011538284.1:p.Val217Tyr
XR_945791.1:n.1315_1317delinsTAT
NM_000314.7:c.745_747delinsTAT NP_000305.3:p.Val249Tyr
NM_001304717.5:c.1264_1266delinsTAT NP_001291646.4:p.Val422Tyr
NM_001304718.2:c.154_156delinsTAT NP_001291647.1:p.Val52Tyr
NM_000314.8:c.745_747delinsTAT MANE Select NP_000305.3:p.Val249Tyr