Canonical Allele Identifier: CA891840091
Gene: PTEN HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.87958008_87958010delinsCAT , CM000672.2:g.87958008_87958010delinsCAT GRCh38
NC_000010.10:g.89717765_89717767delinsCAT , CM000672.1:g.89717765_89717767delinsCAT GRCh37
NC_000010.9:g.89707745_89707747delinsCAT NCBI36
NG_007466.2:g.99570_99572delinsCAT , LRG_311:g.99570_99572delinsCAT

Transcript Alleles

HGVS Amino-acid change
ENST00000700029.2:c.790_792delinsCAT ENSP00000514759.2:p.Met264His
ENST00000710265.1:c.790_792delinsCAT ENSP00000518161.1:p.Met264His
ENST00000472832.3:c.790_792delinsCAT ENSP00000483066.2:p.Met264His
ENST00000688158.2:n.1525_1527delinsCAT
ENST00000688922.2:c.*620_*622delinsCAT ENSP00000508742.2:n.*620_*622delinsCAT
ENST00000700021.1:c.745_747delinsCAT ENSP00000514757.1:p.Met249His
ENST00000700022.1:c.*129_*131delinsCAT ENSP00000514758.1:n.*129_*131delinsCAT
ENST00000700023.1:n.1948_1950delinsCAT
ENST00000700024.1:n.2182_2184delinsCAT
ENST00000700025.1:n.1559_1561delinsCAT
ENST00000700026.1:n.427_429delinsCAT
ENST00000700029.1:c.624_626delinsCAT
ENST00000706954.1:c.790_792delinsCAT ENSP00000516674.1:p.Met264His
ENST00000706955.1:c.*825_*827delinsCAT ENSP00000516675.1:n.*825_*827delinsCAT
ENST00000686459.1:c.*376_*378delinsCAT ENSP00000508909.1:n.*376_*378delinsCAT
ENST00000688158.1:c.*901_*903delinsCAT ENSP00000509254.1:n.*901_*903delinsCAT
ENST00000688308.1:c.790_792delinsCAT ENSP00000508752.1:p.Met264His
ENST00000688922.1:c.711_713delinsCAT
ENST00000693560.1:c.1309_1311delinsCAT ENSP00000509861.1:p.Met437His
ENST00000371953.8:c.790_792delinsCAT MANE Select ENSP00000361021.3:p.Met264His
ENST00000371953.7:c.790_792delinsCAT ENSP00000361021.3:p.Met264His
ENST00000472832.2:c.217_219delinsCAT ENSP00000483066.1:p.Met73His
NM_000314.5:c.790_792delinsCAT NP_000305.3:p.Met264His
NM_000314.6:c.790_792delinsCAT NP_000305.3:p.Met264His
NM_001304717.2:c.1309_1311delinsCAT NP_001291646.2:p.Met437His
NM_001304718.1:c.199_201delinsCAT NP_001291647.1:p.Met67His
XM_006717926.2:c.745_747delinsCAT XP_006717989.1:p.Met249His
XM_011539981.1:c.790_792delinsCAT XP_011538283.1:p.Met264His
XM_011539982.1:c.694_696delinsCAT XP_011538284.1:p.Met232His
XR_945791.1:n.1360_1362delinsCAT
NM_000314.7:c.790_792delinsCAT NP_000305.3:p.Met264His
NM_001304717.5:c.1309_1311delinsCAT NP_001291646.4:p.Met437His
NM_001304718.2:c.199_201delinsCAT NP_001291647.1:p.Met67His
NM_000314.8:c.790_792delinsCAT MANE Select NP_000305.3:p.Met264His