Canonical Allele Identifier: CA891840098
Gene: PTEN HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.87958008_87958010delinsCAA , CM000672.2:g.87958008_87958010delinsCAA GRCh38
NC_000010.10:g.89717765_89717767delinsCAA , CM000672.1:g.89717765_89717767delinsCAA GRCh37
NC_000010.9:g.89707745_89707747delinsCAA NCBI36
NG_007466.2:g.99570_99572delinsCAA , LRG_311:g.99570_99572delinsCAA

Transcript Alleles

HGVS Amino-acid Change
ENST00000700029.2:c.790_792delinsCAA ENSP00000514759.2:p.Met264Gln
ENST00000710265.1:c.790_792delinsCAA ENSP00000518161.1:p.Met264Gln
ENST00000472832.3:c.790_792delinsCAA ENSP00000483066.2:p.Met264Gln
ENST00000688158.2:n.1525_1527delinsCAA
ENST00000688922.2:c.*620_*622delinsCAA ENSP00000508742.2:n.*620_*622delinsCAA
ENST00000700021.1:c.745_747delinsCAA ENSP00000514757.1:p.Met249Gln
ENST00000700022.1:c.*129_*131delinsCAA ENSP00000514758.1:n.*129_*131delinsCAA
ENST00000700023.1:n.1948_1950delinsCAA
ENST00000700024.1:n.2182_2184delinsCAA
ENST00000700025.1:n.1559_1561delinsCAA
ENST00000700026.1:n.427_429delinsCAA
ENST00000700029.1:c.624_626delinsCAA
ENST00000706954.1:c.790_792delinsCAA ENSP00000516674.1:p.Met264Gln
ENST00000706955.1:c.*825_*827delinsCAA ENSP00000516675.1:n.*825_*827delinsCAA
ENST00000686459.1:c.*376_*378delinsCAA ENSP00000508909.1:n.*376_*378delinsCAA
ENST00000688158.1:c.*901_*903delinsCAA ENSP00000509254.1:n.*901_*903delinsCAA
ENST00000688308.1:c.790_792delinsCAA ENSP00000508752.1:p.Met264Gln
ENST00000688922.1:c.711_713delinsCAA
ENST00000693560.1:c.1309_1311delinsCAA ENSP00000509861.1:p.Met437Gln
ENST00000371953.8:c.790_792delinsCAA MANE Select ENSP00000361021.3:p.Met264Gln
ENST00000371953.7:c.790_792delinsCAA ENSP00000361021.3:p.Met264Gln
ENST00000472832.2:c.217_219delinsCAA ENSP00000483066.1:p.Met73Gln
NM_000314.5:c.790_792delinsCAA NP_000305.3:p.Met264Gln
NM_000314.6:c.790_792delinsCAA NP_000305.3:p.Met264Gln
NM_001304717.2:c.1309_1311delinsCAA NP_001291646.2:p.Met437Gln
NM_001304718.1:c.199_201delinsCAA NP_001291647.1:p.Met67Gln
XM_006717926.2:c.745_747delinsCAA XP_006717989.1:p.Met249Gln
XM_011539981.1:c.790_792delinsCAA XP_011538283.1:p.Met264Gln
XM_011539982.1:c.694_696delinsCAA XP_011538284.1:p.Met232Gln
XR_945791.1:n.1360_1362delinsCAA
NM_000314.7:c.790_792delinsCAA NP_000305.3:p.Met264Gln
NM_001304717.5:c.1309_1311delinsCAA NP_001291646.4:p.Met437Gln
NM_001304718.2:c.199_201delinsCAA NP_001291647.1:p.Met67Gln
NM_000314.8:c.790_792delinsCAA MANE Select NP_000305.3:p.Met264Gln