Canonical Allele Identifier: CA2579926496
Gene: PTEN HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.87965299_87965301delinsCAT , CM000672.2:g.87965299_87965301delinsCAT GRCh38
NC_000010.10:g.89725056_89725058delinsCAT , CM000672.1:g.89725056_89725058delinsCAT GRCh37
NC_000010.9:g.89715036_89715038delinsCAT NCBI36
NG_007466.2:g.106861_106863delinsCAT , LRG_311:g.106861_106863delinsCAT

Transcript Alleles

HGVS Amino-acid Change
ENST00000700029.2:c.1132_1134delinsCAT ENSP00000514759.2:p.Phe378His
ENST00000710265.1:c.*68_*70delinsCAT ENSP00000518161.1:n.*68_*70delinsCAT
ENST00000688158.2:n.1774_1776delinsCAT
ENST00000688922.2:c.*869_*871delinsCAT ENSP00000508742.2:n.*869_*871delinsCAT
ENST00000700021.1:c.994_996delinsCAT ENSP00000514757.1:p.Phe332His
ENST00000700022.1:c.*378_*380delinsCAT ENSP00000514758.1:n.*378_*380delinsCAT
ENST00000700023.1:n.2197_2199delinsCAT
ENST00000700024.1:n.2431_2433delinsCAT
ENST00000706954.1:c.1039_1041delinsCAT ENSP00000516674.1:p.Phe347His
ENST00000706955.1:c.*1074_*1076delinsCAT ENSP00000516675.1:n.*1074_*1076delinsCAT
ENST00000686459.1:c.*625_*627delinsCAT ENSP00000508909.1:n.*625_*627delinsCAT
ENST00000688158.1:c.*1150_*1152delinsCAT ENSP00000509254.1:n.*1150_*1152delinsCAT
ENST00000688308.1:c.1039_1041delinsCAT ENSP00000508752.1:p.Phe347His
ENST00000688922.1:c.960_962delinsCAT
ENST00000693560.1:c.1558_1560delinsCAT ENSP00000509861.1:p.Phe520His
ENST00000371953.8:c.1039_1041delinsCAT MANE Select ENSP00000361021.3:p.Phe347His
ENST00000371953.7:c.1039_1041delinsCAT ENSP00000361021.3:p.Phe347His
NM_000314.5:c.1039_1041delinsCAT NP_000305.3:p.Phe347His
NM_000314.6:c.1039_1041delinsCAT NP_000305.3:p.Phe347His
NM_001304717.2:c.1558_1560delinsCAT NP_001291646.2:p.Phe520His
NM_001304718.1:c.448_450delinsCAT NP_001291647.1:p.Phe150His
XM_006717926.2:c.994_996delinsCAT XP_006717989.1:p.Phe332His
XM_011539982.1:c.943_945delinsCAT XP_011538284.1:p.Phe315His
XR_945791.1:n.1609_1611delinsCAT
NM_000314.7:c.1039_1041delinsCAT NP_000305.3:p.Phe347His
NM_001304717.5:c.1558_1560delinsCAT NP_001291646.4:p.Phe520His
NM_001304718.2:c.448_450delinsCAT NP_001291647.1:p.Phe150His
NM_000314.8:c.1039_1041delinsCAT MANE Select NP_000305.3:p.Phe347His