Canonical Allele Identifier: CA2579926806
Gene: PTEN HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.87957958_87957959delinsAT , CM000672.2:g.87957958_87957959delinsAT GRCh38
NC_000010.10:g.89717715_89717716delinsAT , CM000672.1:g.89717715_89717716delinsAT GRCh37
NC_000010.9:g.89707695_89707696delinsAT NCBI36
NG_007466.2:g.99520_99521delinsAT , LRG_311:g.99520_99521delinsAT

Transcript Alleles

HGVS Amino-acid Change
ENST00000700029.2:c.740_741delinsAT ENSP00000514759.2:p.Leu247Tyr
ENST00000710265.1:c.740_741delinsAT ENSP00000518161.1:p.Leu247Tyr
ENST00000472832.3:c.740_741delinsAT ENSP00000483066.2:p.Leu247Tyr
ENST00000688158.2:n.1475_1476delinsAT
ENST00000688922.2:c.*570_*571delinsAT ENSP00000508742.2:n.*570_*571delinsAT
ENST00000700021.1:c.695_696delinsAT ENSP00000514757.1:p.Leu232Tyr
ENST00000700022.1:c.*79_*80delinsAT ENSP00000514758.1:n.*79_*80delinsAT
ENST00000700023.1:n.1898_1899delinsAT
ENST00000700024.1:n.2132_2133delinsAT
ENST00000700025.1:n.1509_1510delinsAT
ENST00000700026.1:n.377_378delinsAT
ENST00000700029.1:c.574_575delinsAT
ENST00000706954.1:c.740_741delinsAT ENSP00000516674.1:p.Leu247Tyr
ENST00000706955.1:c.*775_*776delinsAT ENSP00000516675.1:n.*775_*776delinsAT
ENST00000686459.1:c.*326_*327delinsAT ENSP00000508909.1:n.*326_*327delinsAT
ENST00000688158.1:c.*851_*852delinsAT ENSP00000509254.1:n.*851_*852delinsAT
ENST00000688308.1:c.740_741delinsAT ENSP00000508752.1:p.Leu247Tyr
ENST00000688922.1:c.661_662delinsAT
ENST00000693560.1:c.1259_1260delinsAT ENSP00000509861.1:p.Leu420Tyr
ENST00000371953.8:c.740_741delinsAT MANE Select ENSP00000361021.3:p.Leu247Tyr
ENST00000371953.7:c.740_741delinsAT ENSP00000361021.3:p.Leu247Tyr
ENST00000472832.2:c.167_168delinsAT ENSP00000483066.1:p.Leu56Tyr
NM_000314.5:c.740_741delinsAT NP_000305.3:p.Leu247Tyr
NM_000314.6:c.740_741delinsAT NP_000305.3:p.Leu247Tyr
NM_001304717.2:c.1259_1260delinsAT NP_001291646.2:p.Leu420Tyr
NM_001304718.1:c.149_150delinsAT NP_001291647.1:p.Leu50Tyr
XM_006717926.2:c.695_696delinsAT XP_006717989.1:p.Leu232Tyr
XM_011539981.1:c.740_741delinsAT XP_011538283.1:p.Leu247Tyr
XM_011539982.1:c.644_645delinsAT XP_011538284.1:p.Leu215Tyr
XR_945791.1:n.1310_1311delinsAT
NM_000314.7:c.740_741delinsAT NP_000305.3:p.Leu247Tyr
NM_001304717.5:c.1259_1260delinsAT NP_001291646.4:p.Leu420Tyr
NM_001304718.2:c.149_150delinsAT NP_001291647.1:p.Leu50Tyr
NM_000314.8:c.740_741delinsAT MANE Select NP_000305.3:p.Leu247Tyr