Canonical Allele Identifier: CA2579926748
Gene: PTEN HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.87960990_87960992delinsCAT , CM000672.2:g.87960990_87960992delinsCAT GRCh38
NC_000010.10:g.89720747_89720749delinsCAT , CM000672.1:g.89720747_89720749delinsCAT GRCh37
NC_000010.9:g.89710727_89710729delinsCAT NCBI36
NG_007466.2:g.102552_102554delinsCAT , LRG_311:g.102552_102554delinsCAT

Transcript Alleles

HGVS Amino-acid change
ENST00000700029.2:c.991_993delinsCAT ENSP00000514759.2:p.Ile331His
ENST00000710265.1:c.898_900delinsCAT ENSP00000518161.1:p.Ile300His
ENST00000472832.3:c.898_900delinsCAT ENSP00000483066.2:p.Ile300His
ENST00000688158.2:n.1633_1635delinsCAT
ENST00000688922.2:c.*728_*730delinsCAT ENSP00000508742.2:n.*728_*730delinsCAT
ENST00000700021.1:c.853_855delinsCAT ENSP00000514757.1:p.Ile285His
ENST00000700022.1:c.*237_*239delinsCAT ENSP00000514758.1:n.*237_*239delinsCAT
ENST00000700023.1:n.2056_2058delinsCAT
ENST00000700024.1:n.2290_2292delinsCAT
ENST00000700025.1:n.1667_1669delinsCAT
ENST00000700026.1:n.535_537delinsCAT
ENST00000706954.1:c.898_900delinsCAT ENSP00000516674.1:p.Ile300His
ENST00000706955.1:c.*933_*935delinsCAT ENSP00000516675.1:n.*933_*935delinsCAT
ENST00000686459.1:c.*484_*486delinsCAT ENSP00000508909.1:n.*484_*486delinsCAT
ENST00000688158.1:c.*1009_*1011delinsCAT ENSP00000509254.1:n.*1009_*1011delinsCAT
ENST00000688308.1:c.898_900delinsCAT ENSP00000508752.1:p.Ile300His
ENST00000688922.1:c.819_821delinsCAT
ENST00000693560.1:c.1417_1419delinsCAT ENSP00000509861.1:p.Ile473His
ENST00000371953.8:c.898_900delinsCAT MANE Select ENSP00000361021.3:p.Ile300His
ENST00000371953.7:c.898_900delinsCAT ENSP00000361021.3:p.Ile300His
ENST00000472832.2:c.325_327delinsCAT ENSP00000483066.1:p.Ile109His
NM_000314.5:c.898_900delinsCAT NP_000305.3:p.Ile300His
NM_000314.6:c.898_900delinsCAT NP_000305.3:p.Ile300His
NM_001304717.2:c.1417_1419delinsCAT NP_001291646.2:p.Ile473His
NM_001304718.1:c.307_309delinsCAT NP_001291647.1:p.Ile103His
XM_006717926.2:c.853_855delinsCAT XP_006717989.1:p.Ile285His
XM_011539981.1:c.898_900delinsCAT XP_011538283.1:p.Ile300His
XM_011539982.1:c.802_804delinsCAT XP_011538284.1:p.Ile268His
XR_945791.1:n.1468_1470delinsCAT
NM_000314.7:c.898_900delinsCAT NP_000305.3:p.Ile300His
NM_001304717.5:c.1417_1419delinsCAT NP_001291646.4:p.Ile473His
NM_001304718.2:c.307_309delinsCAT NP_001291647.1:p.Ile103His
NM_000314.8:c.898_900delinsCAT MANE Select NP_000305.3:p.Ile300His