Canonical Allele Identifier: CA2579926367
Gene: PTEN HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.87965467_87965469delinsCAA , CM000672.2:g.87965467_87965469delinsCAA GRCh38
NC_000010.10:g.89725224_89725226delinsCAA , CM000672.1:g.89725224_89725226delinsCAA GRCh37
NC_000010.9:g.89715204_89715206delinsCAA NCBI36
NG_007466.2:g.107029_107031delinsCAA , LRG_311:g.107029_107031delinsCAA

Transcript Alleles

HGVS Amino-acid Change
ENST00000700029.2:c.1300_1302delinsCAA ENSP00000514759.2:p.Val434Gln
ENST00000710265.1:c.*236_*238delinsCAA ENSP00000518161.1:n.*236_*238delinsCAA
ENST00000688158.2:n.1942_1944delinsCAA
ENST00000688922.2:c.*1037_*1039delinsCAA ENSP00000508742.2:n.*1037_*1039delinsCAA
ENST00000700021.1:c.1162_1164delinsCAA ENSP00000514757.1:p.Val388Gln
ENST00000700022.1:c.*546_*548delinsCAA ENSP00000514758.1:n.*546_*548delinsCAA
ENST00000700023.1:n.2365_2367delinsCAA
ENST00000700024.1:n.2599_2601delinsCAA
ENST00000706954.1:c.1207_1209delinsCAA ENSP00000516674.1:p.Val403Gln
ENST00000706955.1:c.*1242_*1244delinsCAA ENSP00000516675.1:n.*1242_*1244delinsCAA
ENST00000686459.1:c.*793_*795delinsCAA ENSP00000508909.1:n.*793_*795delinsCAA
ENST00000688158.1:c.*1318_*1320delinsCAA ENSP00000509254.1:n.*1318_*1320delinsCAA
ENST00000688308.1:c.1207_1209delinsCAA ENSP00000508752.1:p.Val403Gln
ENST00000688922.1:c.1128_1130delinsCAA
ENST00000693560.1:c.1726_1728delinsCAA ENSP00000509861.1:p.Val576Gln
ENST00000371953.8:c.1207_1209delinsCAA MANE Select ENSP00000361021.3:p.Val403Gln
ENST00000371953.7:c.1207_1209delinsCAA ENSP00000361021.3:p.Val403Gln
NM_000314.5:c.1207_1209delinsCAA NP_000305.3:p.Val403Gln
NM_000314.6:c.1207_1209delinsCAA NP_000305.3:p.Val403Gln
NM_001304717.2:c.1726_1728delinsCAA NP_001291646.2:p.Val576Gln
NM_001304718.1:c.616_618delinsCAA NP_001291647.1:p.Val206Gln
XM_006717926.2:c.1162_1164delinsCAA XP_006717989.1:p.Val388Gln
XM_011539982.1:c.1111_1113delinsCAA XP_011538284.1:p.Val371Gln
XR_945791.1:n.1777_1779delinsCAA
NM_000314.7:c.1207_1209delinsCAA NP_000305.3:p.Val403Gln
NM_001304717.5:c.1726_1728delinsCAA NP_001291646.4:p.Val576Gln
NM_001304718.2:c.616_618delinsCAA NP_001291647.1:p.Val206Gln
NM_000314.8:c.1207_1209delinsCAA MANE Select NP_000305.3:p.Val403Gln