Canonical Allele Identifier: CA2695203408
Gene: PTEN HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.87958018_87958019del , CM000672.2:g.87958018_87958019del GRCh38
NC_000010.10:g.89717775_89717776del , CM000672.1:g.89717775_89717776del GRCh37
NC_000010.9:g.89707755_89707756del NCBI36
NG_007466.2:g.99580_99581del , LRG_311:g.99580_99581del

Transcript Alleles

HGVS Amino-acid Change
ENST00000700029.2:c.800_801del ENSP00000514759.2:p.Lys267ArgfsTer?
ENST00000710265.1:c.800_801del ENSP00000518161.1:p.Lys267ArgfsTer30
ENST00000472832.3:c.800_801del ENSP00000483066.2:p.Lys267ArgfsTer30
ENST00000688158.2:n.1535_1536del
ENST00000688922.2:c.*630_*631del ENSP00000508742.2:n.*630_*631del
ENST00000700021.1:c.755_756del ENSP00000514757.1:p.Lys252ArgfsTer30
ENST00000700022.1:c.*139_*140del ENSP00000514758.1:n.*139_*140del
ENST00000700023.1:n.1958_1959del
ENST00000700024.1:n.2192_2193del
ENST00000700025.1:n.1569_1570del
ENST00000700026.1:n.437_438del
ENST00000700029.1:c.634_635del
ENST00000706954.1:c.800_801del ENSP00000516674.1:p.Lys267ArgfsTer30
ENST00000706955.1:c.*835_*836del ENSP00000516675.1:n.*835_*836del
ENST00000686459.1:c.*386_*387del ENSP00000508909.1:n.*386_*387del
ENST00000688158.1:c.*911_*912del ENSP00000509254.1:n.*911_*912del
ENST00000688308.1:c.800_801del ENSP00000508752.1:p.Lys267ArgfsTer30
ENST00000688922.1:c.721_722del
ENST00000693560.1:c.1319_1320del ENSP00000509861.1:p.Lys440ArgfsTer30
ENST00000371953.8:c.800_801del MANE Select ENSP00000361021.3:p.Lys267ArgfsTer30
ENST00000371953.7:c.800_801del ENSP00000361021.3:p.Lys267ArgfsTer30
ENST00000472832.2:c.227_228del ENSP00000483066.1:p.Lys76ArgfsTer30
NM_000314.5:c.800_801del NP_000305.3:p.Lys267ArgfsTer30
NM_000314.6:c.800_801del NP_000305.3:p.Lys267ArgfsTer30
NM_001304717.2:c.1319_1320del NP_001291646.2:p.Lys440ArgfsTer30
NM_001304718.1:c.209_210del NP_001291647.1:p.Lys70ArgfsTer30
XM_006717926.2:c.755_756del XP_006717989.1:p.Lys252ArgfsTer30
XM_011539981.1:c.800_801del XP_011538283.1:p.Lys267ArgfsTer30
XM_011539982.1:c.704_705del XP_011538284.1:p.Lys235ArgfsTer30
XR_945791.1:n.1370_1371del
NM_000314.7:c.800_801del NP_000305.3:p.Lys267ArgfsTer30
NM_001304717.5:c.1319_1320del NP_001291646.4:p.Lys440ArgfsTer30
NM_001304718.2:c.209_210del NP_001291647.1:p.Lys70ArgfsTer30
NM_000314.8:c.800_801del MANE Select NP_000305.3:p.Lys267ArgfsTer30