Canonical Allele Identifier: CA1926190080
Gene: PTEN HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.87961048_87961049delinsCT , CM000672.2:g.87961048_87961049delinsCT GRCh38
NC_000010.10:g.89720805_89720806delinsCT , CM000672.1:g.89720805_89720806delinsCT GRCh37
NC_000010.9:g.89710785_89710786delinsCT NCBI36
NG_007466.2:g.102610_102611delinsCT , LRG_311:g.102610_102611delinsCT

Transcript Alleles

HGVS Amino-acid Change
ENST00000700029.2:c.1049_1050delinsCT ENSP00000514759.2:p.Thr350=
ENST00000710265.1:c.956_957delinsCT ENSP00000518161.1:p.Thr319=
ENST00000472832.3:c.956_957delinsCT ENSP00000483066.2:p.Thr319=
ENST00000688158.2:n.1691_1692delinsCT
ENST00000688922.2:c.*786_*787delinsCT ENSP00000508742.2:n.*786_*787delinsCT
ENST00000700021.1:c.911_912delinsCT ENSP00000514757.1:p.Thr304=
ENST00000700022.1:c.*295_*296delinsCT ENSP00000514758.1:n.*295_*296delinsCT
ENST00000700023.1:n.2114_2115delinsCT
ENST00000700024.1:n.2348_2349delinsCT
ENST00000700025.1:n.1725_1726delinsCT
ENST00000700026.1:n.593_594delinsCT
ENST00000706954.1:c.956_957delinsCT ENSP00000516674.1:p.Thr319=
ENST00000706955.1:c.*991_*992delinsCT ENSP00000516675.1:n.*991_*992delinsCT
ENST00000686459.1:c.*542_*543delinsCT ENSP00000508909.1:n.*542_*543delinsCT
ENST00000688158.1:c.*1067_*1068delinsCT ENSP00000509254.1:n.*1067_*1068delinsCT
ENST00000688308.1:c.956_957delinsCT ENSP00000508752.1:p.Thr319=
ENST00000688922.1:c.877_878delinsCT
ENST00000693560.1:c.1475_1476delinsCT ENSP00000509861.1:p.Thr492=
ENST00000371953.8:c.956_957delinsCT MANE Select ENSP00000361021.3:p.Thr319=
ENST00000371953.7:c.956_957delinsCT ENSP00000361021.3:p.Thr319=
ENST00000472832.2:c.383_384delinsCT ENSP00000483066.1:p.Thr128=
NM_000314.5:c.956_957delinsCT NP_000305.3:p.Thr319=
NM_000314.6:c.956_957delinsCT NP_000305.3:p.Thr319=
NM_001304717.2:c.1475_1476delinsCT NP_001291646.2:p.Thr492=
NM_001304718.1:c.365_366delinsCT NP_001291647.1:p.Thr122=
XM_006717926.2:c.911_912delinsCT XP_006717989.1:p.Thr304=
XM_011539981.1:c.956_957delinsCT XP_011538283.1:p.Thr319=
XM_011539982.1:c.860_861delinsCT XP_011538284.1:p.Thr287=
XR_945791.1:n.1526_1527delinsCT
NM_000314.7:c.956_957delinsCT NP_000305.3:p.Thr319=
NM_001304717.5:c.1475_1476delinsCT NP_001291646.4:p.Thr492=
NM_001304718.2:c.365_366delinsCT NP_001291647.1:p.Thr122=
NM_000314.8:c.956_957delinsCT MANE Select NP_000305.3:p.Thr319=