Canonical Allele Identifier: CA2579926517
Gene: PTEN HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.87965293_87965295delinsTAA , CM000672.2:g.87965293_87965295delinsTAA GRCh38
NC_000010.10:g.89725050_89725052delinsTAA , CM000672.1:g.89725050_89725052delinsTAA GRCh37
NC_000010.9:g.89715030_89715032delinsTAA NCBI36
NG_007466.2:g.106855_106857delinsTAA , LRG_311:g.106855_106857delinsTAA

Transcript Alleles

HGVS Amino-acid Change
ENST00000700029.2:c.1126_1128delinsTAA ENSP00000514759.2:p.Leu376Ter
ENST00000710265.1:c.*62_*64delinsTAA ENSP00000518161.1:n.*62_*64delinsTAA
ENST00000688158.2:n.1768_1770delinsTAA
ENST00000688922.2:c.*863_*865delinsTAA ENSP00000508742.2:n.*863_*865delinsTAA
ENST00000700021.1:c.988_990delinsTAA ENSP00000514757.1:p.Leu330Ter
ENST00000700022.1:c.*372_*374delinsTAA ENSP00000514758.1:n.*372_*374delinsTAA
ENST00000700023.1:n.2191_2193delinsTAA
ENST00000700024.1:n.2425_2427delinsTAA
ENST00000706954.1:c.1033_1035delinsTAA ENSP00000516674.1:p.Leu345Ter
ENST00000706955.1:c.*1068_*1070delinsTAA ENSP00000516675.1:n.*1068_*1070delinsTAA
ENST00000686459.1:c.*619_*621delinsTAA ENSP00000508909.1:n.*619_*621delinsTAA
ENST00000688158.1:c.*1144_*1146delinsTAA ENSP00000509254.1:n.*1144_*1146delinsTAA
ENST00000688308.1:c.1033_1035delinsTAA ENSP00000508752.1:p.Leu345Ter
ENST00000688922.1:c.954_956delinsTAA
ENST00000693560.1:c.1552_1554delinsTAA ENSP00000509861.1:p.Leu518Ter
ENST00000371953.8:c.1033_1035delinsTAA MANE Select ENSP00000361021.3:p.Leu345Ter
ENST00000371953.7:c.1033_1035delinsTAA ENSP00000361021.3:p.Leu345Ter
NM_000314.5:c.1033_1035delinsTAA NP_000305.3:p.Leu345Ter
NM_000314.6:c.1033_1035delinsTAA NP_000305.3:p.Leu345Ter
NM_001304717.2:c.1552_1554delinsTAA NP_001291646.2:p.Leu518Ter
NM_001304718.1:c.442_444delinsTAA NP_001291647.1:p.Leu148Ter
XM_006717926.2:c.988_990delinsTAA XP_006717989.1:p.Leu330Ter
XM_011539982.1:c.937_939delinsTAA XP_011538284.1:p.Leu313Ter
XR_945791.1:n.1603_1605delinsTAA
NM_000314.7:c.1033_1035delinsTAA NP_000305.3:p.Leu345Ter
NM_001304717.5:c.1552_1554delinsTAA NP_001291646.4:p.Leu518Ter
NM_001304718.2:c.442_444delinsTAA NP_001291647.1:p.Leu148Ter
NM_000314.8:c.1033_1035delinsTAA MANE Select NP_000305.3:p.Leu345Ter