Canonical Allele Identifier: CA2788883883
Gene: PTEN HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.87958018_87958019insACACCAAACACACCCAACACA , CM000672.2:g.87958018_87958019insACACCAAACACACCCAACACA GRCh38
NC_000010.10:g.89717775_89717776insACACCAAACACACCCAACACA , CM000672.1:g.89717775_89717776insACACCAAACACACCCAACACA GRCh37
NC_000010.9:g.89707755_89707756insACACCAAACACACCCAACACA NCBI36
NG_007466.2:g.99580_99581insACACCAAACACACCCAACACA , LRG_311:g.99580_99581insACACCAAACACACCCAACACA

Transcript Alleles

HGVS Amino-acid Change
ENST00000700029.2:c.800_801insACACCAAACACACCCAACACA ENSP00000514759.2:p.Lys267_Gly268insHisGlnThrHisProThrGln
ENST00000710265.1:c.800_801insACACCAAACACACCCAACACA ENSP00000518161.1:p.Lys267_Asp268insHisGlnThrHisProThrGln
ENST00000472832.3:c.800_801insACACCAAACACACCCAACACA ENSP00000483066.2:p.Lys267_Asp268insHisGlnThrHisProThrGln
ENST00000688158.2:n.1535_1536insACACCAAACACACCCAACACA
ENST00000688922.2:c.*630_*631insACACCAAACACACCCAACACA ENSP00000508742.2:n.*630_*631insACACCAAACACACCCAACACA
ENST00000700021.1:c.755_756insACACCAAACACACCCAACACA ENSP00000514757.1:p.Lys252_Asp253insHisGlnThrHisProThrGln
ENST00000700022.1:c.*139_*140insACACCAAACACACCCAACACA ENSP00000514758.1:n.*139_*140insACACCAAACACACCCAACACA
ENST00000700023.1:n.1958_1959insACACCAAACACACCCAACACA
ENST00000700024.1:n.2192_2193insACACCAAACACACCCAACACA
ENST00000700025.1:n.1569_1570insACACCAAACACACCCAACACA
ENST00000700026.1:n.437_438insACACCAAACACACCCAACACA
ENST00000700029.1:c.634_635insACACCAAACACACCCAACACA
ENST00000706954.1:c.800_801insACACCAAACACACCCAACACA ENSP00000516674.1:p.Lys267_Asp268insHisGlnThrHisProThrGln
ENST00000706955.1:c.*835_*836insACACCAAACACACCCAACACA ENSP00000516675.1:n.*835_*836insACACCAAACACACCCAACACA
ENST00000686459.1:c.*386_*387insACACCAAACACACCCAACACA ENSP00000508909.1:n.*386_*387insACACCAAACACACCCAACACA
ENST00000688158.1:c.*911_*912insACACCAAACACACCCAACACA ENSP00000509254.1:n.*911_*912insACACCAAACACACCCAACACA
ENST00000688308.1:c.800_801insACACCAAACACACCCAACACA ENSP00000508752.1:p.Lys267_Asp268insHisGlnThrHisProThrGln
ENST00000688922.1:c.721_722insACACCAAACACACCCAACACA
ENST00000693560.1:c.1319_1320insACACCAAACACACCCAACACA ENSP00000509861.1:p.Lys440_Asp441insHisGlnThrHisProThrGln
ENST00000371953.8:c.800_801insACACCAAACACACCCAACACA MANE Select ENSP00000361021.3:p.Lys267_Asp268insHisGlnThrHisProThrGln
ENST00000371953.7:c.800_801insACACCAAACACACCCAACACA ENSP00000361021.3:p.Lys267_Asp268insHisGlnThrHisProThrGln
ENST00000472832.2:c.227_228insACACCAAACACACCCAACACA ENSP00000483066.1:p.Lys76_Asp77insHisGlnThrHisProThrGln
NM_000314.5:c.800_801insACACCAAACACACCCAACACA NP_000305.3:p.Lys267_Asp268insHisGlnThrHisProThrGln
NM_000314.6:c.800_801insACACCAAACACACCCAACACA NP_000305.3:p.Lys267_Asp268insHisGlnThrHisProThrGln
NM_001304717.2:c.1319_1320insACACCAAACACACCCAACACA NP_001291646.2:p.Lys440_Asp441insHisGlnThrHisProThrGln
NM_001304718.1:c.209_210insACACCAAACACACCCAACACA NP_001291647.1:p.Lys70_Asp71insHisGlnThrHisProThrGln
XM_006717926.2:c.755_756insACACCAAACACACCCAACACA XP_006717989.1:p.Lys252_Asp253insHisGlnThrHisProThrGln
XM_011539981.1:c.800_801insACACCAAACACACCCAACACA XP_011538283.1:p.Lys267_Asp268insHisGlnThrHisProThrGln
XM_011539982.1:c.704_705insACACCAAACACACCCAACACA XP_011538284.1:p.Lys235_Asp236insHisGlnThrHisProThrGln
XR_945791.1:n.1370_1371insACACCAAACACACCCAACACA
NM_000314.7:c.800_801insACACCAAACACACCCAACACA NP_000305.3:p.Lys267_Asp268insHisGlnThrHisProThrGln
NM_001304717.5:c.1319_1320insACACCAAACACACCCAACACA NP_001291646.4:p.Lys440_Asp441insHisGlnThrHisProThrGln
NM_001304718.2:c.209_210insACACCAAACACACCCAACACA NP_001291647.1:p.Lys70_Asp71insHisGlnThrHisProThrGln
NM_000314.8:c.800_801insACACCAAACACACCCAACACA MANE Select NP_000305.3:p.Lys267_Asp268insHisGlnThrHisProThrGln