Canonical Allele Identifier: CA2695200879
Gene: PTEN HGNC NCBI

Linked Data

ClinVar Variation Id: 2674288
ClinVar RCV Id: RCV003452484
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.87957939_87958004del , CM000672.2:g.87957939_87958004del GRCh38
NC_000010.10:g.89717696_89717761del , CM000672.1:g.89717696_89717761del GRCh37
NC_000010.9:g.89707676_89707741del NCBI36
NG_007466.2:g.99501_99566del , LRG_311:g.99501_99566del

Transcript Alleles

HGVS Amino-acid Change
ENST00000700029.2:c.721_786del ENSP00000514759.2:p.Phe241_Asn262del
ENST00000710265.1:c.721_786del ENSP00000518161.1:p.Phe241_Asn262del
ENST00000472832.3:c.721_786del ENSP00000483066.2:p.Phe241_Asn262del
ENST00000688158.2:n.1456_1521del
ENST00000688922.2:c.*551_*616del ENSP00000508742.2:n.*551_*616del
ENST00000700021.1:c.676_741del ENSP00000514757.1:p.Phe226_Asn247del
ENST00000700022.1:c.*60_*125del ENSP00000514758.1:n.*60_*125del
ENST00000700023.1:n.1879_1944del
ENST00000700024.1:n.2113_2178del
ENST00000700025.1:n.1490_1555del
ENST00000700026.1:n.358_423del
ENST00000700029.1:c.555_620del
ENST00000706954.1:c.721_786del ENSP00000516674.1:p.Phe241_Asn262del
ENST00000706955.1:c.*756_*821del ENSP00000516675.1:n.*756_*821del
ENST00000686459.1:c.*307_*372del ENSP00000508909.1:n.*307_*372del
ENST00000688158.1:c.*832_*897del ENSP00000509254.1:n.*832_*897del
ENST00000688308.1:c.721_786del ENSP00000508752.1:p.Phe241_Asn262del
ENST00000688922.1:c.642_707del
ENST00000693560.1:c.1240_1305del ENSP00000509861.1:p.Phe414_Asn435del
ENST00000371953.8:c.721_786del MANE Select ENSP00000361021.3:p.Phe241_Asn262del
ENST00000371953.7:c.721_786del ENSP00000361021.3:p.Phe241_Asn262del
ENST00000472832.2:c.148_213del ENSP00000483066.1:p.Phe50_Asn71del
NM_000314.5:c.721_786del NP_000305.3:p.Phe241_Asn262del
NM_000314.6:c.721_786del NP_000305.3:p.Phe241_Asn262del
NM_001304717.2:c.1240_1305del NP_001291646.2:p.Phe414_Asn435del
NM_001304718.1:c.130_195del NP_001291647.1:p.Phe44_Asn65del
XM_006717926.2:c.676_741del XP_006717989.1:p.Phe226_Asn247del
XM_011539981.1:c.721_786del XP_011538283.1:p.Phe241_Asn262del
XM_011539982.1:c.625_690del XP_011538284.1:p.Phe209_Asn230del
XR_945791.1:n.1291_1356del
NM_000314.7:c.721_786del NP_000305.3:p.Phe241_Asn262del
NM_001304717.5:c.1240_1305del NP_001291646.4:p.Phe414_Asn435del
NM_001304718.2:c.130_195del NP_001291647.1:p.Phe44_Asn65del
NM_000314.8:c.721_786del MANE Select NP_000305.3:p.Phe241_Asn262del
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