Canonical Allele Identifier: CA000571
Gene: PTEN HGNC NCBI

Linked Data

ClinVar Variation Id: 189452
ClinVar RCV Id: RCV000169845
dbSNP Id: rs786204904
MyVariant Identifiers: chr10:g.89717746_89717747del (hg19) chr10:g.87957989_87957990del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.87957989_87957990del , CM000672.2:g.87957989_87957990del GRCh38
NC_000010.10:g.89717746_89717747del , CM000672.1:g.89717746_89717747del GRCh37
NC_000010.9:g.89707726_89707727del NCBI36
NG_007466.2:g.99551_99552del , LRG_311:g.99551_99552del

Transcript Alleles

HGVS Amino-acid Change
ENST00000700029.2:c.771_772del ENSP00000514759.2:p.Phe258ProfsTer?
ENST00000710265.1:c.771_772del ENSP00000518161.1:p.Phe258ProfsTer?
ENST00000472832.3:c.771_772del ENSP00000483066.2:p.Phe258ProfsTer?
ENST00000688158.2:n.1506_1507del
ENST00000688922.2:c.*601_*602del ENSP00000508742.2:n.*601_*602del
ENST00000700021.1:c.726_727del ENSP00000514757.1:p.Phe243ProfsTer?
ENST00000700022.1:c.*110_*111del ENSP00000514758.1:n.*110_*111del
ENST00000700023.1:n.1929_1930del
ENST00000700024.1:n.2163_2164del
ENST00000700025.1:n.1540_1541del
ENST00000700026.1:n.408_409del
ENST00000700029.1:c.605_606del
ENST00000706954.1:c.771_772del ENSP00000516674.1:p.Phe258ProfsTer?
ENST00000706955.1:c.*806_*807del ENSP00000516675.1:n.*806_*807del
ENST00000686459.1:c.*357_*358del ENSP00000508909.1:n.*357_*358del
ENST00000688158.1:c.*882_*883del ENSP00000509254.1:n.*882_*883del
ENST00000688308.1:c.771_772del ENSP00000508752.1:p.Phe258ProfsTer?
ENST00000688922.1:c.692_693del
ENST00000693560.1:c.1290_1291del ENSP00000509861.1:p.Phe431ProfsTer?
ENST00000371953.8:c.771_772del MANE Select ENSP00000361021.3:p.Phe258ProfsTer?
ENST00000371953.7:c.771_772del ENSP00000361021.3:p.Phe258ProfsTer?
ENST00000472832.2:c.198_199del ENSP00000483066.1:p.Phe67ProfsTer?
NM_000314.5:c.771_772del NP_000305.3:p.Phe258ProfsTer?
NM_000314.6:c.771_772del NP_000305.3:p.Phe258ProfsTer?
NM_001304717.2:c.1290_1291del NP_001291646.2:p.Phe431ProfsTer?
NM_001304718.1:c.180_181del NP_001291647.1:p.Phe61ProfsTer?
XM_006717926.2:c.726_727del XP_006717989.1:p.Phe243ProfsTer?
XM_011539981.1:c.771_772del XP_011538283.1:p.Phe258ProfsTer?
XM_011539982.1:c.675_676del XP_011538284.1:p.Phe226ProfsTer?
XR_945791.1:n.1341_1342del
NM_000314.7:c.771_772del NP_000305.3:p.Phe258ProfsTer?
NM_001304717.5:c.1290_1291del NP_001291646.4:p.Phe431ProfsTer?
NM_001304718.2:c.180_181del NP_001291647.1:p.Phe61ProfsTer?
NM_000314.8:c.771_772del MANE Select NP_000305.3:p.Phe258ProfsTer?
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