Canonical Allele Identifier: CA891839938
Gene: PTEN HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.87957978_87957980delinsCAT , CM000672.2:g.87957978_87957980delinsCAT GRCh38
NC_000010.10:g.89717735_89717737delinsCAT , CM000672.1:g.89717735_89717737delinsCAT GRCh37
NC_000010.9:g.89707715_89707717delinsCAT NCBI36
NG_007466.2:g.99540_99542delinsCAT , LRG_311:g.99540_99542delinsCAT

Transcript Alleles

HGVS Amino-acid Change
ENST00000700029.2:c.760_762delinsCAT ENSP00000514759.2:p.Lys254His
ENST00000710265.1:c.760_762delinsCAT ENSP00000518161.1:p.Lys254His
ENST00000472832.3:c.760_762delinsCAT ENSP00000483066.2:p.Lys254His
ENST00000688158.2:n.1495_1497delinsCAT
ENST00000688922.2:c.*590_*592delinsCAT ENSP00000508742.2:n.*590_*592delinsCAT
ENST00000700021.1:c.715_717delinsCAT ENSP00000514757.1:p.Lys239His
ENST00000700022.1:c.*99_*101delinsCAT ENSP00000514758.1:n.*99_*101delinsCAT
ENST00000700023.1:n.1918_1920delinsCAT
ENST00000700024.1:n.2152_2154delinsCAT
ENST00000700025.1:n.1529_1531delinsCAT
ENST00000700026.1:n.397_399delinsCAT
ENST00000700029.1:c.594_596delinsCAT
ENST00000706954.1:c.760_762delinsCAT ENSP00000516674.1:p.Lys254His
ENST00000706955.1:c.*795_*797delinsCAT ENSP00000516675.1:n.*795_*797delinsCAT
ENST00000686459.1:c.*346_*348delinsCAT ENSP00000508909.1:n.*346_*348delinsCAT
ENST00000688158.1:c.*871_*873delinsCAT ENSP00000509254.1:n.*871_*873delinsCAT
ENST00000688308.1:c.760_762delinsCAT ENSP00000508752.1:p.Lys254His
ENST00000688922.1:c.681_683delinsCAT
ENST00000693560.1:c.1279_1281delinsCAT ENSP00000509861.1:p.Lys427His
ENST00000371953.8:c.760_762delinsCAT MANE Select ENSP00000361021.3:p.Lys254His
ENST00000371953.7:c.760_762delinsCAT ENSP00000361021.3:p.Lys254His
ENST00000472832.2:c.187_189delinsCAT ENSP00000483066.1:p.Lys63His
NM_000314.5:c.760_762delinsCAT NP_000305.3:p.Lys254His
NM_000314.6:c.760_762delinsCAT NP_000305.3:p.Lys254His
NM_001304717.2:c.1279_1281delinsCAT NP_001291646.2:p.Lys427His
NM_001304718.1:c.169_171delinsCAT NP_001291647.1:p.Lys57His
XM_006717926.2:c.715_717delinsCAT XP_006717989.1:p.Lys239His
XM_011539981.1:c.760_762delinsCAT XP_011538283.1:p.Lys254His
XM_011539982.1:c.664_666delinsCAT XP_011538284.1:p.Lys222His
XR_945791.1:n.1330_1332delinsCAT
NM_000314.7:c.760_762delinsCAT NP_000305.3:p.Lys254His
NM_001304717.5:c.1279_1281delinsCAT NP_001291646.4:p.Lys427His
NM_001304718.2:c.169_171delinsCAT NP_001291647.1:p.Lys57His
NM_000314.8:c.760_762delinsCAT MANE Select NP_000305.3:p.Lys254His