Canonical Allele Identifier: CA10578916
Gene: PTEN HGNC NCBI

Linked Data

ClinVar Variation Id: 229962
ClinVar RCV Id: RCV000219850
dbSNP Id: rs876658304
MyVariant Identifiers: chr10:g.89692974_89692977del (hg19) chr10:g.87933217_87933220del (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.87933217_87933220del , CM000672.2:g.87933217_87933220del GRCh38
NC_000010.10:g.89692974_89692977del , CM000672.1:g.89692974_89692977del GRCh37
NC_000010.9:g.89682954_89682957del NCBI36
NG_007466.2:g.74779_74782del , LRG_311:g.74779_74782del

Transcript Alleles

HGVS Amino-acid change
ENST00000700029.2:c.458_461del ENSP00000514759.2:p.Asp153AlafsTer5
ENST00000710265.1:c.458_461del ENSP00000518161.1:p.Asp153AlafsTer5
ENST00000472832.3:c.458_461del ENSP00000483066.2:p.Asp153AlafsTer5
ENST00000688158.2:n.1193_1196del
ENST00000688922.2:c.*288_*291del ENSP00000508742.2:n.*288_*291del
ENST00000700021.1:c.413_416del ENSP00000514757.1:p.Asp138AlafsTer5
ENST00000700022.1:c.458_461del ENSP00000514758.1:p.Asp153AlafsTer5
ENST00000700029.1:c.292_295del
ENST00000706954.1:c.458_461del ENSP00000516674.1:p.Asp153AlafsTer5
ENST00000706955.1:c.*493_*496del ENSP00000516675.1:n.*493_*496del
ENST00000686459.1:c.458_461del ENSP00000508909.1:p.Asp153AlafsTer5
ENST00000688158.1:c.*569_*572del ENSP00000509254.1:n.*569_*572del
ENST00000688308.1:c.458_461del ENSP00000508752.1:p.Asp153AlafsTer5
ENST00000688922.1:c.379_382del
ENST00000693560.1:c.977_980del ENSP00000509861.1:p.Asp326AlafsTer5
ENST00000371953.8:c.458_461del MANE Select ENSP00000361021.3:p.Asp153AlafsTer5
ENST00000371953.7:c.458_461del ENSP00000361021.3:p.Asp153AlafsTer5
ENST00000498703.1:n.284_287del
ENST00000610634.1:c.356_359del ENSP00000477517.1:p.Asp119AlafsTer5
NM_000314.5:c.458_461del NP_000305.3:p.Asp153AlafsTer5
NM_000314.6:c.458_461del NP_000305.3:p.Asp153AlafsTer5
NM_001304717.2:c.977_980del NP_001291646.2:p.Asp326AlafsTer5
NM_001304718.1:c.-293_-290del NP_001291647.1:n.-293_-290del
XM_006717926.2:c.413_416del XP_006717989.1:p.Asp138AlafsTer5
XM_011539981.1:c.458_461del XP_011538283.1:p.Asp153AlafsTer5
XM_011539982.1:c.362_365del XP_011538284.1:p.Asp121AlafsTer5
XR_945789.1:n.1170_1173del
XR_945790.1:n.1170_1173del
XR_945791.1:n.1170_1173del
NM_000314.7:c.458_461del NP_000305.3:p.Asp153AlafsTer5
NM_001304717.5:c.977_980del NP_001291646.4:p.Asp326AlafsTer5
NM_001304718.2:c.-293_-290del NP_001291647.1:n.-293_-290del
NM_000314.8:c.458_461del MANE Select NP_000305.3:p.Asp153AlafsTer5
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