Canonical Allele Identifier: CA2579926760
Gene: PTEN HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.87960916_87960917delinsCT , CM000672.2:g.87960916_87960917delinsCT GRCh38
NC_000010.10:g.89720673_89720674delinsCT , CM000672.1:g.89720673_89720674delinsCT GRCh37
NC_000010.9:g.89710653_89710654delinsCT NCBI36
NG_007466.2:g.102478_102479delinsCT , LRG_311:g.102478_102479delinsCT

Transcript Alleles

HGVS Amino-acid Change
ENST00000700029.2:c.917_918delinsCT ENSP00000514759.2:p.Val306Ala
ENST00000710265.1:c.824_825delinsCT ENSP00000518161.1:p.Val275Ala
ENST00000472832.3:c.824_825delinsCT ENSP00000483066.2:p.Val275Ala
ENST00000688158.2:n.1559_1560delinsCT
ENST00000688922.2:c.*654_*655delinsCT ENSP00000508742.2:n.*654_*655delinsCT
ENST00000700021.1:c.779_780delinsCT ENSP00000514757.1:p.Val260Ala
ENST00000700022.1:c.*163_*164delinsCT ENSP00000514758.1:n.*163_*164delinsCT
ENST00000700023.1:n.1982_1983delinsCT
ENST00000700024.1:n.2216_2217delinsCT
ENST00000700025.1:n.1593_1594delinsCT
ENST00000700026.1:n.461_462delinsCT
ENST00000700029.1:c.751_752delinsCT
ENST00000706954.1:c.824_825delinsCT ENSP00000516674.1:p.Val275Ala
ENST00000706955.1:c.*859_*860delinsCT ENSP00000516675.1:n.*859_*860delinsCT
ENST00000686459.1:c.*410_*411delinsCT ENSP00000508909.1:n.*410_*411delinsCT
ENST00000688158.1:c.*935_*936delinsCT ENSP00000509254.1:n.*935_*936delinsCT
ENST00000688308.1:c.824_825delinsCT ENSP00000508752.1:p.Val275Ala
ENST00000688922.1:c.745_746delinsCT
ENST00000693560.1:c.1343_1344delinsCT ENSP00000509861.1:p.Val448Ala
ENST00000371953.8:c.824_825delinsCT MANE Select ENSP00000361021.3:p.Val275Ala
ENST00000371953.7:c.824_825delinsCT ENSP00000361021.3:p.Val275Ala
ENST00000472832.2:c.251_252delinsCT ENSP00000483066.1:p.Val84Ala
NM_000314.5:c.824_825delinsCT NP_000305.3:p.Val275Ala
NM_000314.6:c.824_825delinsCT NP_000305.3:p.Val275Ala
NM_001304717.2:c.1343_1344delinsCT NP_001291646.2:p.Val448Ala
NM_001304718.1:c.233_234delinsCT NP_001291647.1:p.Val78Ala
XM_006717926.2:c.779_780delinsCT XP_006717989.1:p.Val260Ala
XM_011539981.1:c.824_825delinsCT XP_011538283.1:p.Val275Ala
XM_011539982.1:c.728_729delinsCT XP_011538284.1:p.Val243Ala
XR_945791.1:n.1394_1395delinsCT
NM_000314.7:c.824_825delinsCT NP_000305.3:p.Val275Ala
NM_001304717.5:c.1343_1344delinsCT NP_001291646.4:p.Val448Ala
NM_001304718.2:c.233_234delinsCT NP_001291647.1:p.Val78Ala
NM_000314.8:c.824_825delinsCT MANE Select NP_000305.3:p.Val275Ala