Canonical Allele Identifier: CA059460
Gene: PTEN HGNC NCBI

Linked Data

ClinVar Variation Id: 142397
ClinVar RCV Id: RCV000131492 RCV000203983 RCV000254681 RCV000409649 RCV000588392 RCV001798452 RCV002272138 RCV004544298
dbSNP Id: rs587780544
ExAC: 10:89690790 ACTTTT / A
gnomAD v2: 10-89690790-ACTTTT-A
gnomAD v3: 10-87931033-ACTTTT-A
gnomAD v4: 10-87931033-ACTTTT-A
COSMIC: COSM27105
MyVariant Identifiers: chr10:g.89690796_89690800del (hg19) chr10:g.89690791_89690795del (hg19) chr10:g.87931039_87931043del (hg38) chr10:g.87931035_87931039del (hg38) chr10:g.87931034_87931038del (hg38)
PubMed: PMID:11120338 PMID:11156385 PMID:15211648 PMID:15589575 PMID:16287957 PMID:17526801 PMID:20600018 PMID:21194675 PMID:21659347 PMID:22261759 PMID:22995991 PMID:25186627 PMID:25669429 PMID:27443514 PMID:27978560 PMID:28677221
ERepo: CA059460/MONDO:0017623/003
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.87931039_87931043del , CM000672.2:g.87931039_87931043del GRCh38
NC_000010.10:g.89690796_89690800del , CM000672.1:g.89690796_89690800del GRCh37
NC_000010.9:g.89680776_89680780del NCBI36
NG_007466.2:g.72601_72605del , LRG_311:g.72601_72605del

Transcript Alleles

HGVS Amino-acid Change
ENST00000700029.2:c.210-7_210-3del ENSP00000514759.2:n.210-7_210-3del
ENST00000710265.1:c.210-7_210-3del ENSP00000518161.1:n.210-7_210-3del
ENST00000472832.3:c.210-7_210-3del ENSP00000483066.2:n.210-7_210-3del
ENST00000688158.2:n.945-7_945-3del
ENST00000688922.2:c.*40-7_*40-3del ENSP00000508742.2:n.*40-7_*40-3del
ENST00000700021.1:c.165-7_165-3del ENSP00000514757.1:n.165-7_165-3del
ENST00000700022.1:c.210-7_210-3del ENSP00000514758.1:n.210-7_210-3del
ENST00000700029.1:c.44-7_44-3del
ENST00000706954.1:c.210-7_210-3del ENSP00000516674.1:n.210-7_210-3del
ENST00000706955.1:c.*245-7_*245-3del ENSP00000516675.1:n.*245-7_*245-3del
ENST00000686459.1:c.210-7_210-3del ENSP00000508909.1:n.210-7_210-3del
ENST00000688158.1:c.*321-7_*321-3del ENSP00000509254.1:n.*321-7_*321-3del
ENST00000688308.1:c.210-7_210-3del ENSP00000508752.1:n.210-7_210-3del
ENST00000688922.1:c.131-7_131-3del
ENST00000693560.1:c.729-7_729-3del ENSP00000509861.1:n.729-7_729-3del
ENST00000371953.8:c.210-7_210-3del MANE Select ENSP00000361021.3:n.210-7_210-3del
ENST00000371953.7:c.210-7_210-3del ENSP00000361021.3:n.210-7_210-3del
ENST00000498703.1:n.36-7_36-3del
ENST00000610634.1:c.108-7_108-3del ENSP00000477517.1:n.108-7_108-3del
NM_000314.5:c.210-7_210-3del NP_000305.3:n.210-7_210-3del
NM_000314.6:c.210-7_210-3del NP_000305.3:n.210-7_210-3del
NM_001304717.2:c.729-7_729-3del NP_001291646.2:n.729-7_729-3del
NM_001304718.1:c.-541-7_-541-3del NP_001291647.1:n.-541-7_-541-3del
XM_006717926.2:c.165-7_165-3del XP_006717989.1:n.165-7_165-3del
XM_011539981.1:c.210-7_210-3del XP_011538283.1:n.210-7_210-3del
XM_011539982.1:c.114-7_114-3del XP_011538284.1:n.114-7_114-3del
XR_945789.1:n.922-7_922-3del
XR_945790.1:n.922-7_922-3del
XR_945791.1:n.922-7_922-3del
NM_000314.7:c.210-7_210-3del NP_000305.3:n.210-7_210-3del
NM_001304717.5:c.729-7_729-3del NP_001291646.4:n.729-7_729-3del
NM_001304718.2:c.-541-7_-541-3del NP_001291647.1:n.-541-7_-541-3del
NM_000314.8:c.210-7_210-3del MANE Select NP_000305.3:n.210-7_210-3del
Search 100 bp 5'
Search 100 bp 3'