Canonical Allele Identifier: CA891839956
Gene: PTEN HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.87957981_87957983delinsCAT , CM000672.2:g.87957981_87957983delinsCAT GRCh38
NC_000010.10:g.89717738_89717740delinsCAT , CM000672.1:g.89717738_89717740delinsCAT GRCh37
NC_000010.9:g.89707718_89707720delinsCAT NCBI36
NG_007466.2:g.99543_99545delinsCAT , LRG_311:g.99543_99545delinsCAT

Transcript Alleles

HGVS Amino-acid Change
ENST00000700029.2:c.763_765delinsCAT ENSP00000514759.2:p.Val255His
ENST00000710265.1:c.763_765delinsCAT ENSP00000518161.1:p.Val255His
ENST00000472832.3:c.763_765delinsCAT ENSP00000483066.2:p.Val255His
ENST00000688158.2:n.1498_1500delinsCAT
ENST00000688922.2:c.*593_*595delinsCAT ENSP00000508742.2:n.*593_*595delinsCAT
ENST00000700021.1:c.718_720delinsCAT ENSP00000514757.1:p.Val240His
ENST00000700022.1:c.*102_*104delinsCAT ENSP00000514758.1:n.*102_*104delinsCAT
ENST00000700023.1:n.1921_1923delinsCAT
ENST00000700024.1:n.2155_2157delinsCAT
ENST00000700025.1:n.1532_1534delinsCAT
ENST00000700026.1:n.400_402delinsCAT
ENST00000700029.1:c.597_599delinsCAT
ENST00000706954.1:c.763_765delinsCAT ENSP00000516674.1:p.Val255His
ENST00000706955.1:c.*798_*800delinsCAT ENSP00000516675.1:n.*798_*800delinsCAT
ENST00000686459.1:c.*349_*351delinsCAT ENSP00000508909.1:n.*349_*351delinsCAT
ENST00000688158.1:c.*874_*876delinsCAT ENSP00000509254.1:n.*874_*876delinsCAT
ENST00000688308.1:c.763_765delinsCAT ENSP00000508752.1:p.Val255His
ENST00000688922.1:c.684_686delinsCAT
ENST00000693560.1:c.1282_1284delinsCAT ENSP00000509861.1:p.Val428His
ENST00000371953.8:c.763_765delinsCAT MANE Select ENSP00000361021.3:p.Val255His
ENST00000371953.7:c.763_765delinsCAT ENSP00000361021.3:p.Val255His
ENST00000472832.2:c.190_192delinsCAT ENSP00000483066.1:p.Val64His
NM_000314.5:c.763_765delinsCAT NP_000305.3:p.Val255His
NM_000314.6:c.763_765delinsCAT NP_000305.3:p.Val255His
NM_001304717.2:c.1282_1284delinsCAT NP_001291646.2:p.Val428His
NM_001304718.1:c.172_174delinsCAT NP_001291647.1:p.Val58His
XM_006717926.2:c.718_720delinsCAT XP_006717989.1:p.Val240His
XM_011539981.1:c.763_765delinsCAT XP_011538283.1:p.Val255His
XM_011539982.1:c.667_669delinsCAT XP_011538284.1:p.Val223His
XR_945791.1:n.1333_1335delinsCAT
NM_000314.7:c.763_765delinsCAT NP_000305.3:p.Val255His
NM_001304717.5:c.1282_1284delinsCAT NP_001291646.4:p.Val428His
NM_001304718.2:c.172_174delinsCAT NP_001291647.1:p.Val58His
NM_000314.8:c.763_765delinsCAT MANE Select NP_000305.3:p.Val255His