Canonical Allele Identifier: CA2579926515
Gene: PTEN HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.87965296_87965298delinsGTT , CM000672.2:g.87965296_87965298delinsGTT GRCh38
NC_000010.10:g.89725053_89725055delinsGTT , CM000672.1:g.89725053_89725055delinsGTT GRCh37
NC_000010.9:g.89715033_89715035delinsGTT NCBI36
NG_007466.2:g.106858_106860delinsGTT , LRG_311:g.106858_106860delinsGTT

Transcript Alleles

HGVS Amino-acid Change
ENST00000700029.2:c.1129_1131delinsGTT ENSP00000514759.2:p.Tyr377Val
ENST00000710265.1:c.*65_*67delinsGTT ENSP00000518161.1:n.*65_*67delinsGTT
ENST00000688158.2:n.1771_1773delinsGTT
ENST00000688922.2:c.*866_*868delinsGTT ENSP00000508742.2:n.*866_*868delinsGTT
ENST00000700021.1:c.991_993delinsGTT ENSP00000514757.1:p.Tyr331Val
ENST00000700022.1:c.*375_*377delinsGTT ENSP00000514758.1:n.*375_*377delinsGTT
ENST00000700023.1:n.2194_2196delinsGTT
ENST00000700024.1:n.2428_2430delinsGTT
ENST00000706954.1:c.1036_1038delinsGTT ENSP00000516674.1:p.Tyr346Val
ENST00000706955.1:c.*1071_*1073delinsGTT ENSP00000516675.1:n.*1071_*1073delinsGTT
ENST00000686459.1:c.*622_*624delinsGTT ENSP00000508909.1:n.*622_*624delinsGTT
ENST00000688158.1:c.*1147_*1149delinsGTT ENSP00000509254.1:n.*1147_*1149delinsGTT
ENST00000688308.1:c.1036_1038delinsGTT ENSP00000508752.1:p.Tyr346Val
ENST00000688922.1:c.957_959delinsGTT
ENST00000693560.1:c.1555_1557delinsGTT ENSP00000509861.1:p.Tyr519Val
ENST00000371953.8:c.1036_1038delinsGTT MANE Select ENSP00000361021.3:p.Tyr346Val
ENST00000371953.7:c.1036_1038delinsGTT ENSP00000361021.3:p.Tyr346Val
NM_000314.5:c.1036_1038delinsGTT NP_000305.3:p.Tyr346Val
NM_000314.6:c.1036_1038delinsGTT NP_000305.3:p.Tyr346Val
NM_001304717.2:c.1555_1557delinsGTT NP_001291646.2:p.Tyr519Val
NM_001304718.1:c.445_447delinsGTT NP_001291647.1:p.Tyr149Val
XM_006717926.2:c.991_993delinsGTT XP_006717989.1:p.Tyr331Val
XM_011539982.1:c.940_942delinsGTT XP_011538284.1:p.Tyr314Val
XR_945791.1:n.1606_1608delinsGTT
NM_000314.7:c.1036_1038delinsGTT NP_000305.3:p.Tyr346Val
NM_001304717.5:c.1555_1557delinsGTT NP_001291646.4:p.Tyr519Val
NM_001304718.2:c.445_447delinsGTT NP_001291647.1:p.Tyr149Val
NM_000314.8:c.1036_1038delinsGTT MANE Select NP_000305.3:p.Tyr346Val