Canonical Allele Identifier: CA16619067
Gene: PTEN HGNC NCBI

Linked Data

ClinVar Variation Id: 422965
ClinVar RCV Id: RCV000487015
dbSNP Id: rs1064796128
MyVariant Identifiers: chr10:g.89720793_89720794del (hg19) chr10:g.87961036_87961037del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.87961036_87961037del , CM000672.2:g.87961036_87961037del GRCh38
NC_000010.10:g.89720793_89720794del , CM000672.1:g.89720793_89720794del GRCh37
NC_000010.9:g.89710773_89710774del NCBI36
NG_007466.2:g.102598_102599del , LRG_311:g.102598_102599del

Transcript Alleles

HGVS Amino-acid change
ENST00000700029.2:c.1037_1038del ENSP00000514759.2:p.Tyr346SerfsTer9
ENST00000710265.1:c.944_945del ENSP00000518161.1:p.Tyr315SerfsTer9
ENST00000472832.3:c.944_945del ENSP00000483066.2:p.Tyr315SerfsTer9
ENST00000688158.2:n.1679_1680del
ENST00000688922.2:c.*774_*775del ENSP00000508742.2:n.*774_*775del
ENST00000700021.1:c.899_900del ENSP00000514757.1:p.Tyr300SerfsTer9
ENST00000700022.1:c.*283_*284del ENSP00000514758.1:n.*283_*284del
ENST00000700023.1:n.2102_2103del
ENST00000700024.1:n.2336_2337del
ENST00000700025.1:n.1713_1714del
ENST00000700026.1:n.581_582del
ENST00000706954.1:c.944_945del ENSP00000516674.1:p.Tyr315SerfsTer9
ENST00000706955.1:c.*979_*980del ENSP00000516675.1:n.*979_*980del
ENST00000686459.1:c.*530_*531del ENSP00000508909.1:n.*530_*531del
ENST00000688158.1:c.*1055_*1056del ENSP00000509254.1:n.*1055_*1056del
ENST00000688308.1:c.944_945del ENSP00000508752.1:p.Tyr315SerfsTer9
ENST00000688922.1:c.865_866del
ENST00000693560.1:c.1463_1464del ENSP00000509861.1:p.Tyr488SerfsTer9
ENST00000371953.8:c.944_945del MANE Select ENSP00000361021.3:p.Tyr315SerfsTer9
ENST00000371953.7:c.944_945del ENSP00000361021.3:p.Tyr315SerfsTer9
ENST00000472832.2:c.371_372del ENSP00000483066.1:p.Tyr124SerfsTer9
NM_000314.5:c.944_945del NP_000305.3:p.Tyr315SerfsTer9
NM_000314.6:c.944_945del NP_000305.3:p.Tyr315SerfsTer9
NM_001304717.2:c.1463_1464del NP_001291646.2:p.Tyr488SerfsTer9
NM_001304718.1:c.353_354del NP_001291647.1:p.Tyr118SerfsTer9
XM_006717926.2:c.899_900del XP_006717989.1:p.Tyr300SerfsTer9
XM_011539981.1:c.944_945del XP_011538283.1:p.Tyr315SerfsTer9
XM_011539982.1:c.848_849del XP_011538284.1:p.Tyr283SerfsTer9
XR_945791.1:n.1514_1515del
NM_000314.7:c.944_945del NP_000305.3:p.Tyr315SerfsTer9
NM_001304717.5:c.1463_1464del NP_001291646.4:p.Tyr488SerfsTer9
NM_001304718.2:c.353_354del NP_001291647.1:p.Tyr118SerfsTer9
NM_000314.8:c.944_945del MANE Select NP_000305.3:p.Tyr315SerfsTer9
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