Canonical Allele Identifier: CA891841315
Gene: PTEN HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.87961056_87961057delinsGC , CM000672.2:g.87961056_87961057delinsGC GRCh38
NC_000010.10:g.89720813_89720814delinsGC , CM000672.1:g.89720813_89720814delinsGC GRCh37
NC_000010.9:g.89710793_89710794delinsGC NCBI36
NG_007466.2:g.102618_102619delinsGC , LRG_311:g.102618_102619delinsGC

Transcript Alleles

HGVS Amino-acid Change
ENST00000700029.2:c.1057_1058delinsGC ENSP00000514759.2:p.Lys353Ala
ENST00000710265.1:c.964_965delinsGC ENSP00000518161.1:p.Lys322Ala
ENST00000472832.3:c.964_965delinsGC ENSP00000483066.2:p.Lys322Ala
ENST00000688158.2:n.1699_1700delinsGC
ENST00000688922.2:c.*794_*795delinsGC ENSP00000508742.2:n.*794_*795delinsGC
ENST00000700021.1:c.919_920delinsGC ENSP00000514757.1:p.Lys307Ala
ENST00000700022.1:c.*303_*304delinsGC ENSP00000514758.1:n.*303_*304delinsGC
ENST00000700023.1:n.2122_2123delinsGC
ENST00000700024.1:n.2356_2357delinsGC
ENST00000700025.1:n.1733_1734delinsGC
ENST00000700026.1:n.601_602delinsGC
ENST00000706954.1:c.964_965delinsGC ENSP00000516674.1:p.Lys322Ala
ENST00000706955.1:c.*999_*1000delinsGC ENSP00000516675.1:n.*999_*1000delinsGC
ENST00000686459.1:c.*550_*551delinsGC ENSP00000508909.1:n.*550_*551delinsGC
ENST00000688158.1:c.*1075_*1076delinsGC ENSP00000509254.1:n.*1075_*1076delinsGC
ENST00000688308.1:c.964_965delinsGC ENSP00000508752.1:p.Lys322Ala
ENST00000688922.1:c.885_886delinsGC
ENST00000693560.1:c.1483_1484delinsGC ENSP00000509861.1:p.Lys495Ala
ENST00000371953.8:c.964_965delinsGC MANE Select ENSP00000361021.3:p.Lys322Ala
ENST00000371953.7:c.964_965delinsGC ENSP00000361021.3:p.Lys322Ala
ENST00000472832.2:c.391_392delinsGC ENSP00000483066.1:p.Lys131Ala
NM_000314.5:c.964_965delinsGC NP_000305.3:p.Lys322Ala
NM_000314.6:c.964_965delinsGC NP_000305.3:p.Lys322Ala
NM_001304717.2:c.1483_1484delinsGC NP_001291646.2:p.Lys495Ala
NM_001304718.1:c.373_374delinsGC NP_001291647.1:p.Lys125Ala
XM_006717926.2:c.919_920delinsGC XP_006717989.1:p.Lys307Ala
XM_011539981.1:c.964_965delinsGC XP_011538283.1:p.Lys322Ala
XM_011539982.1:c.868_869delinsGC XP_011538284.1:p.Lys290Ala
XR_945791.1:n.1534_1535delinsGC
NM_000314.7:c.964_965delinsGC NP_000305.3:p.Lys322Ala
NM_001304717.5:c.1483_1484delinsGC NP_001291646.4:p.Lys495Ala
NM_001304718.2:c.373_374delinsGC NP_001291647.1:p.Lys125Ala
NM_000314.8:c.964_965delinsGC MANE Select NP_000305.3:p.Lys322Ala