Canonical Allele Identifier: CA2579926499
Gene: PTEN HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.87965300_87965301delinsGT , CM000672.2:g.87965300_87965301delinsGT GRCh38
NC_000010.10:g.89725057_89725058delinsGT , CM000672.1:g.89725057_89725058delinsGT GRCh37
NC_000010.9:g.89715037_89715038delinsGT NCBI36
NG_007466.2:g.106862_106863delinsGT , LRG_311:g.106862_106863delinsGT

Transcript Alleles

HGVS Amino-acid Change
ENST00000700029.2:c.1133_1134delinsGT ENSP00000514759.2:p.Phe378Cys
ENST00000710265.1:c.*69_*70delinsGT ENSP00000518161.1:n.*69_*70delinsGT
ENST00000688158.2:n.1775_1776delinsGT
ENST00000688922.2:c.*870_*871delinsGT ENSP00000508742.2:n.*870_*871delinsGT
ENST00000700021.1:c.995_996delinsGT ENSP00000514757.1:p.Phe332Cys
ENST00000700022.1:c.*379_*380delinsGT ENSP00000514758.1:n.*379_*380delinsGT
ENST00000700023.1:n.2198_2199delinsGT
ENST00000700024.1:n.2432_2433delinsGT
ENST00000706954.1:c.1040_1041delinsGT ENSP00000516674.1:p.Phe347Cys
ENST00000706955.1:c.*1075_*1076delinsGT ENSP00000516675.1:n.*1075_*1076delinsGT
ENST00000686459.1:c.*626_*627delinsGT ENSP00000508909.1:n.*626_*627delinsGT
ENST00000688158.1:c.*1151_*1152delinsGT ENSP00000509254.1:n.*1151_*1152delinsGT
ENST00000688308.1:c.1040_1041delinsGT ENSP00000508752.1:p.Phe347Cys
ENST00000688922.1:c.961_962delinsGT
ENST00000693560.1:c.1559_1560delinsGT ENSP00000509861.1:p.Phe520Cys
ENST00000371953.8:c.1040_1041delinsGT MANE Select ENSP00000361021.3:p.Phe347Cys
ENST00000371953.7:c.1040_1041delinsGT ENSP00000361021.3:p.Phe347Cys
NM_000314.5:c.1040_1041delinsGT NP_000305.3:p.Phe347Cys
NM_000314.6:c.1040_1041delinsGT NP_000305.3:p.Phe347Cys
NM_001304717.2:c.1559_1560delinsGT NP_001291646.2:p.Phe520Cys
NM_001304718.1:c.449_450delinsGT NP_001291647.1:p.Phe150Cys
XM_006717926.2:c.995_996delinsGT XP_006717989.1:p.Phe332Cys
XM_011539982.1:c.944_945delinsGT XP_011538284.1:p.Phe315Cys
XR_945791.1:n.1610_1611delinsGT
NM_000314.7:c.1040_1041delinsGT NP_000305.3:p.Phe347Cys
NM_001304717.5:c.1559_1560delinsGT NP_001291646.4:p.Phe520Cys
NM_001304718.2:c.449_450delinsGT NP_001291647.1:p.Phe150Cys
NM_000314.8:c.1040_1041delinsGT MANE Select NP_000305.3:p.Phe347Cys