Canonical Allele Identifier: CA891839925
Gene: PTEN HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.87957975_87957977delinsCAA , CM000672.2:g.87957975_87957977delinsCAA GRCh38
NC_000010.10:g.89717732_89717734delinsCAA , CM000672.1:g.89717732_89717734delinsCAA GRCh37
NC_000010.9:g.89707712_89707714delinsCAA NCBI36
NG_007466.2:g.99537_99539delinsCAA , LRG_311:g.99537_99539delinsCAA

Transcript Alleles

HGVS Amino-acid Change
ENST00000700029.2:c.757_759delinsCAA ENSP00000514759.2:p.Ile253Gln
ENST00000710265.1:c.757_759delinsCAA ENSP00000518161.1:p.Ile253Gln
ENST00000472832.3:c.757_759delinsCAA ENSP00000483066.2:p.Ile253Gln
ENST00000688158.2:n.1492_1494delinsCAA
ENST00000688922.2:c.*587_*589delinsCAA ENSP00000508742.2:n.*587_*589delinsCAA
ENST00000700021.1:c.712_714delinsCAA ENSP00000514757.1:p.Ile238Gln
ENST00000700022.1:c.*96_*98delinsCAA ENSP00000514758.1:n.*96_*98delinsCAA
ENST00000700023.1:n.1915_1917delinsCAA
ENST00000700024.1:n.2149_2151delinsCAA
ENST00000700025.1:n.1526_1528delinsCAA
ENST00000700026.1:n.394_396delinsCAA
ENST00000700029.1:c.591_593delinsCAA
ENST00000706954.1:c.757_759delinsCAA ENSP00000516674.1:p.Ile253Gln
ENST00000706955.1:c.*792_*794delinsCAA ENSP00000516675.1:n.*792_*794delinsCAA
ENST00000686459.1:c.*343_*345delinsCAA ENSP00000508909.1:n.*343_*345delinsCAA
ENST00000688158.1:c.*868_*870delinsCAA ENSP00000509254.1:n.*868_*870delinsCAA
ENST00000688308.1:c.757_759delinsCAA ENSP00000508752.1:p.Ile253Gln
ENST00000688922.1:c.678_680delinsCAA
ENST00000693560.1:c.1276_1278delinsCAA ENSP00000509861.1:p.Ile426Gln
ENST00000371953.8:c.757_759delinsCAA MANE Select ENSP00000361021.3:p.Ile253Gln
ENST00000371953.7:c.757_759delinsCAA ENSP00000361021.3:p.Ile253Gln
ENST00000472832.2:c.184_186delinsCAA ENSP00000483066.1:p.Ile62Gln
NM_000314.5:c.757_759delinsCAA NP_000305.3:p.Ile253Gln
NM_000314.6:c.757_759delinsCAA NP_000305.3:p.Ile253Gln
NM_001304717.2:c.1276_1278delinsCAA NP_001291646.2:p.Ile426Gln
NM_001304718.1:c.166_168delinsCAA NP_001291647.1:p.Ile56Gln
XM_006717926.2:c.712_714delinsCAA XP_006717989.1:p.Ile238Gln
XM_011539981.1:c.757_759delinsCAA XP_011538283.1:p.Ile253Gln
XM_011539982.1:c.661_663delinsCAA XP_011538284.1:p.Ile221Gln
XR_945791.1:n.1327_1329delinsCAA
NM_000314.7:c.757_759delinsCAA NP_000305.3:p.Ile253Gln
NM_001304717.5:c.1276_1278delinsCAA NP_001291646.4:p.Ile426Gln
NM_001304718.2:c.166_168delinsCAA NP_001291647.1:p.Ile56Gln
NM_000314.8:c.757_759delinsCAA MANE Select NP_000305.3:p.Ile253Gln