Canonical Allele Identifier: CA891840252
Gene: PTEN HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.87960915_87960916delinsAA , CM000672.2:g.87960915_87960916delinsAA GRCh38
NC_000010.10:g.89720672_89720673delinsAA , CM000672.1:g.89720672_89720673delinsAA GRCh37
NC_000010.9:g.89710652_89710653delinsAA NCBI36
NG_007466.2:g.102477_102478delinsAA , LRG_311:g.102477_102478delinsAA

Transcript Alleles

HGVS Amino-acid Change
ENST00000700029.2:c.916_917delinsAA ENSP00000514759.2:p.Val306Lys
ENST00000710265.1:c.823_824delinsAA ENSP00000518161.1:p.Val275Lys
ENST00000472832.3:c.823_824delinsAA ENSP00000483066.2:p.Val275Lys
ENST00000688158.2:n.1558_1559delinsAA
ENST00000688922.2:c.*653_*654delinsAA ENSP00000508742.2:n.*653_*654delinsAA
ENST00000700021.1:c.778_779delinsAA ENSP00000514757.1:p.Val260Lys
ENST00000700022.1:c.*162_*163delinsAA ENSP00000514758.1:n.*162_*163delinsAA
ENST00000700023.1:n.1981_1982delinsAA
ENST00000700024.1:n.2215_2216delinsAA
ENST00000700025.1:n.1592_1593delinsAA
ENST00000700026.1:n.460_461delinsAA
ENST00000700029.1:c.750_751delinsAA
ENST00000706954.1:c.823_824delinsAA ENSP00000516674.1:p.Val275Lys
ENST00000706955.1:c.*858_*859delinsAA ENSP00000516675.1:n.*858_*859delinsAA
ENST00000686459.1:c.*409_*410delinsAA ENSP00000508909.1:n.*409_*410delinsAA
ENST00000688158.1:c.*934_*935delinsAA ENSP00000509254.1:n.*934_*935delinsAA
ENST00000688308.1:c.823_824delinsAA ENSP00000508752.1:p.Val275Lys
ENST00000688922.1:c.744_745delinsAA
ENST00000693560.1:c.1342_1343delinsAA ENSP00000509861.1:p.Val448Lys
ENST00000371953.8:c.823_824delinsAA MANE Select ENSP00000361021.3:p.Val275Lys
ENST00000371953.7:c.823_824delinsAA ENSP00000361021.3:p.Val275Lys
ENST00000472832.2:c.250_251delinsAA ENSP00000483066.1:p.Val84Lys
NM_000314.5:c.823_824delinsAA NP_000305.3:p.Val275Lys
NM_000314.6:c.823_824delinsAA NP_000305.3:p.Val275Lys
NM_001304717.2:c.1342_1343delinsAA NP_001291646.2:p.Val448Lys
NM_001304718.1:c.232_233delinsAA NP_001291647.1:p.Val78Lys
XM_006717926.2:c.778_779delinsAA XP_006717989.1:p.Val260Lys
XM_011539981.1:c.823_824delinsAA XP_011538283.1:p.Val275Lys
XM_011539982.1:c.727_728delinsAA XP_011538284.1:p.Val243Lys
XR_945791.1:n.1393_1394delinsAA
NM_000314.7:c.823_824delinsAA NP_000305.3:p.Val275Lys
NM_001304717.5:c.1342_1343delinsAA NP_001291646.4:p.Val448Lys
NM_001304718.2:c.232_233delinsAA NP_001291647.1:p.Val78Lys
NM_000314.8:c.823_824delinsAA MANE Select NP_000305.3:p.Val275Lys