Canonical Allele Identifier: CA1139661606
Gene: PTEN HGNC NCBI

Linked Data

ClinVar Variation Id: 993089
ClinVar RCV Id: RCV001284060 RCV003619742 RCV003449833
dbSNP Id: rs1860552294
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Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.87958017_87958018insTT , CM000672.2:g.87958017_87958018insTT GRCh38
NC_000010.10:g.89717774_89717775insTT , CM000672.1:g.89717774_89717775insTT GRCh37
NC_000010.9:g.89707754_89707755insTT NCBI36
NG_007466.2:g.99579_99580insTT , LRG_311:g.99579_99580insTT

Transcript Alleles

HGVS Amino-acid Change
ENST00000700029.2:c.799_800insTT ENSP00000514759.2:p.Lys267IlefsTer?
ENST00000710265.1:c.799_800insTT ENSP00000518161.1:p.Lys267IlefsTer10
ENST00000472832.3:c.799_800insTT ENSP00000483066.2:p.Lys267IlefsTer10
ENST00000688158.2:n.1534_1535insTT
ENST00000688922.2:c.*629_*630insTT ENSP00000508742.2:n.*629_*630insTT
ENST00000700021.1:c.754_755insTT ENSP00000514757.1:p.Lys252IlefsTer10
ENST00000700022.1:c.*138_*139insTT ENSP00000514758.1:n.*138_*139insTT
ENST00000700023.1:n.1957_1958insTT
ENST00000700024.1:n.2191_2192insTT
ENST00000700025.1:n.1568_1569insTT
ENST00000700026.1:n.436_437insTT
ENST00000700029.1:c.633_634insTT
ENST00000706954.1:c.799_800insTT ENSP00000516674.1:p.Lys267IlefsTer10
ENST00000706955.1:c.*834_*835insTT ENSP00000516675.1:n.*834_*835insTT
ENST00000686459.1:c.*385_*386insTT ENSP00000508909.1:n.*385_*386insTT
ENST00000688158.1:c.*910_*911insTT ENSP00000509254.1:n.*910_*911insTT
ENST00000688308.1:c.799_800insTT ENSP00000508752.1:p.Lys267IlefsTer10
ENST00000688922.1:c.720_721insTT
ENST00000693560.1:c.1318_1319insTT ENSP00000509861.1:p.Lys440IlefsTer10
ENST00000371953.8:c.799_800insTT MANE Select ENSP00000361021.3:p.Lys267IlefsTer10
ENST00000371953.7:c.799_800insTT ENSP00000361021.3:p.Lys267IlefsTer10
ENST00000472832.2:c.226_227insTT ENSP00000483066.1:p.Lys76IlefsTer10
NM_000314.5:c.799_800insTT NP_000305.3:p.Lys267IlefsTer10
NM_000314.6:c.799_800insTT NP_000305.3:p.Lys267IlefsTer10
NM_001304717.2:c.1318_1319insTT NP_001291646.2:p.Lys440IlefsTer10
NM_001304718.1:c.208_209insTT NP_001291647.1:p.Lys70IlefsTer10
XM_006717926.2:c.754_755insTT XP_006717989.1:p.Lys252IlefsTer10
XM_011539981.1:c.799_800insTT XP_011538283.1:p.Lys267IlefsTer10
XM_011539982.1:c.703_704insTT XP_011538284.1:p.Lys235IlefsTer10
XR_945791.1:n.1369_1370insTT
NM_000314.7:c.799_800insTT NP_000305.3:p.Lys267IlefsTer10
NM_001304717.5:c.1318_1319insTT NP_001291646.4:p.Lys440IlefsTer10
NM_001304718.2:c.208_209insTT NP_001291647.1:p.Lys70IlefsTer10
NM_000314.8:c.799_800insTT MANE Select NP_000305.3:p.Lys267IlefsTer10
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