Canonical Allele Identifier: CA000573
Gene: PTEN HGNC NCBI

Linked Data

ClinVar Variation Id: 140898
ClinVar RCV Id: RCV000129138
dbSNP Id: rs587781354
MyVariant Identifiers: chr10:g.89717747_89717748del (hg19) chr10:g.87957990_87957991del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.87957990_87957991del , CM000672.2:g.87957990_87957991del GRCh38
NC_000010.10:g.89717747_89717748del , CM000672.1:g.89717747_89717748del GRCh37
NC_000010.9:g.89707727_89707728del NCBI36
NG_007466.2:g.99552_99553del , LRG_311:g.99552_99553del

Transcript Alleles

HGVS Amino-acid Change
ENST00000700029.2:c.772_773del ENSP00000514759.2:p.Phe258ProfsTer?
ENST00000710265.1:c.772_773del ENSP00000518161.1:p.Phe258ProfsTer?
ENST00000472832.3:c.772_773del ENSP00000483066.2:p.Phe258ProfsTer?
ENST00000688158.2:n.1507_1508del
ENST00000688922.2:c.*602_*603del ENSP00000508742.2:n.*602_*603del
ENST00000700021.1:c.727_728del ENSP00000514757.1:p.Phe243ProfsTer?
ENST00000700022.1:c.*111_*112del ENSP00000514758.1:n.*111_*112del
ENST00000700023.1:n.1930_1931del
ENST00000700024.1:n.2164_2165del
ENST00000700025.1:n.1541_1542del
ENST00000700026.1:n.409_410del
ENST00000700029.1:c.606_607del
ENST00000706954.1:c.772_773del ENSP00000516674.1:p.Phe258ProfsTer?
ENST00000706955.1:c.*807_*808del ENSP00000516675.1:n.*807_*808del
ENST00000686459.1:c.*358_*359del ENSP00000508909.1:n.*358_*359del
ENST00000688158.1:c.*883_*884del ENSP00000509254.1:n.*883_*884del
ENST00000688308.1:c.772_773del ENSP00000508752.1:p.Phe258ProfsTer?
ENST00000688922.1:c.693_694del
ENST00000693560.1:c.1291_1292del ENSP00000509861.1:p.Phe431ProfsTer?
ENST00000371953.8:c.772_773del MANE Select ENSP00000361021.3:p.Phe258ProfsTer?
ENST00000371953.7:c.772_773del ENSP00000361021.3:p.Phe258ProfsTer?
ENST00000472832.2:c.199_200del ENSP00000483066.1:p.Phe67ProfsTer?
NM_000314.5:c.772_773del NP_000305.3:p.Phe258ProfsTer?
NM_000314.6:c.772_773del NP_000305.3:p.Phe258ProfsTer?
NM_001304717.2:c.1291_1292del NP_001291646.2:p.Phe431ProfsTer?
NM_001304718.1:c.181_182del NP_001291647.1:p.Phe61ProfsTer?
XM_006717926.2:c.727_728del XP_006717989.1:p.Phe243ProfsTer?
XM_011539981.1:c.772_773del XP_011538283.1:p.Phe258ProfsTer?
XM_011539982.1:c.676_677del XP_011538284.1:p.Phe226ProfsTer?
XR_945791.1:n.1342_1343del
NM_000314.7:c.772_773del NP_000305.3:p.Phe258ProfsTer?
NM_001304717.5:c.1291_1292del NP_001291646.4:p.Phe431ProfsTer?
NM_001304718.2:c.181_182del NP_001291647.1:p.Phe61ProfsTer?
NM_000314.8:c.772_773del MANE Select NP_000305.3:p.Phe258ProfsTer?
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