Canonical Allele Identifier: CA891839951
Gene: PTEN HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.87957981_87957982delinsCA , CM000672.2:g.87957981_87957982delinsCA GRCh38
NC_000010.10:g.89717738_89717739delinsCA , CM000672.1:g.89717738_89717739delinsCA GRCh37
NC_000010.9:g.89707718_89707719delinsCA NCBI36
NG_007466.2:g.99543_99544delinsCA , LRG_311:g.99543_99544delinsCA

Transcript Alleles

HGVS Amino-acid Change
ENST00000700029.2:c.763_764delinsCA ENSP00000514759.2:p.Val255Gln
ENST00000710265.1:c.763_764delinsCA ENSP00000518161.1:p.Val255Gln
ENST00000472832.3:c.763_764delinsCA ENSP00000483066.2:p.Val255Gln
ENST00000688158.2:n.1498_1499delinsCA
ENST00000688922.2:c.*593_*594delinsCA ENSP00000508742.2:n.*593_*594delinsCA
ENST00000700021.1:c.718_719delinsCA ENSP00000514757.1:p.Val240Gln
ENST00000700022.1:c.*102_*103delinsCA ENSP00000514758.1:n.*102_*103delinsCA
ENST00000700023.1:n.1921_1922delinsCA
ENST00000700024.1:n.2155_2156delinsCA
ENST00000700025.1:n.1532_1533delinsCA
ENST00000700026.1:n.400_401delinsCA
ENST00000700029.1:c.597_598delinsCA
ENST00000706954.1:c.763_764delinsCA ENSP00000516674.1:p.Val255Gln
ENST00000706955.1:c.*798_*799delinsCA ENSP00000516675.1:n.*798_*799delinsCA
ENST00000686459.1:c.*349_*350delinsCA ENSP00000508909.1:n.*349_*350delinsCA
ENST00000688158.1:c.*874_*875delinsCA ENSP00000509254.1:n.*874_*875delinsCA
ENST00000688308.1:c.763_764delinsCA ENSP00000508752.1:p.Val255Gln
ENST00000688922.1:c.684_685delinsCA
ENST00000693560.1:c.1282_1283delinsCA ENSP00000509861.1:p.Val428Gln
ENST00000371953.8:c.763_764delinsCA MANE Select ENSP00000361021.3:p.Val255Gln
ENST00000371953.7:c.763_764delinsCA ENSP00000361021.3:p.Val255Gln
ENST00000472832.2:c.190_191delinsCA ENSP00000483066.1:p.Val64Gln
NM_000314.5:c.763_764delinsCA NP_000305.3:p.Val255Gln
NM_000314.6:c.763_764delinsCA NP_000305.3:p.Val255Gln
NM_001304717.2:c.1282_1283delinsCA NP_001291646.2:p.Val428Gln
NM_001304718.1:c.172_173delinsCA NP_001291647.1:p.Val58Gln
XM_006717926.2:c.718_719delinsCA XP_006717989.1:p.Val240Gln
XM_011539981.1:c.763_764delinsCA XP_011538283.1:p.Val255Gln
XM_011539982.1:c.667_668delinsCA XP_011538284.1:p.Val223Gln
XR_945791.1:n.1333_1334delinsCA
NM_000314.7:c.763_764delinsCA NP_000305.3:p.Val255Gln
NM_001304717.5:c.1282_1283delinsCA NP_001291646.4:p.Val428Gln
NM_001304718.2:c.172_173delinsCA NP_001291647.1:p.Val58Gln
NM_000314.8:c.763_764delinsCA MANE Select NP_000305.3:p.Val255Gln