Canonical Allele Identifier: CA2695200921

Gene: PTEN

Linked Data

• ClinVar Variation Id: 2674355
• ClinVar RCV Id: RCV003452551

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.87952128_87952164del , CM000672.2:g.87952128_87952164del	GRCh38
NC_000010.10:g.89711885_89711921del , CM000672.1:g.89711885_89711921del	GRCh37
NC_000010.9:g.89701865_89701901del	NCBI36
NG_007466.2:g.93690_93726del , LRG_311:g.93690_93726del

Transcript Alleles

HGVS	Amino-acid change
ENST00000700029.2:c.503_539del	ENSP00000514759.2:p.Ile168ThrfsTer3
ENST00000710265.1:c.503_539del	ENSP00000518161.1:p.Ile168ThrfsTer3
ENST00000472832.3:c.503_539del	ENSP00000483066.2:p.Ile168ThrfsTer3
ENST00000688158.2:n.1238_1274del
ENST00000688922.2:c.*333_*369del	ENSP00000508742.2:n.*333_*369del
ENST00000700021.1:c.458_494del	ENSP00000514757.1:p.Ile153ThrfsTer3
ENST00000700022.1:c.493-5725_493-5689del	ENSP00000514758.1:n.493-5725_493-5689del
ENST00000700023.1:n.1661_1697del
ENST00000700024.1:n.1895_1931del
ENST00000700025.1:n.1272_1308del
ENST00000700029.1:c.337_373del
ENST00000706954.1:c.503_539del	ENSP00000516674.1:p.Ile168ThrfsTer3
ENST00000706955.1:c.*538_*574del	ENSP00000516675.1:n.*538_*574del
ENST00000686459.1:c.*89_*125del	ENSP00000508909.1:n.*89_*125del
ENST00000688158.1:c.*614_*650del	ENSP00000509254.1:n.*614_*650del
ENST00000688308.1:c.503_539del	ENSP00000508752.1:p.Ile168ThrfsTer3
ENST00000688922.1:c.424_460del
ENST00000693560.1:c.1022_1058del	ENSP00000509861.1:p.Ile341ThrfsTer3
ENST00000371953.8:c.503_539del MANE Select	ENSP00000361021.3:p.Ile168ThrfsTer3
ENST00000371953.7:c.503_539del	ENSP00000361021.3:p.Ile168ThrfsTer3
NM_000314.5:c.503_539del	NP_000305.3:p.Ile168ThrfsTer3
NM_000314.6:c.503_539del	NP_000305.3:p.Ile168ThrfsTer3
NM_001304717.2:c.1022_1058del	NP_001291646.2:p.Ile341ThrfsTer3
NM_001304718.1:c.-89_-53del	NP_001291647.1:n.-89_-53del
XM_006717926.2:c.458_494del	XP_006717989.1:p.Ile153ThrfsTer3
XM_011539981.1:c.503_539del	XP_011538283.1:p.Ile168ThrfsTer3
XM_011539982.1:c.407_443del	XP_011538284.1:p.Ile136ThrfsTer3
XR_945789.1:n.1374_1410del
XR_945790.1:n.1491_1527del
XR_945791.1:n.1205-5725_1205-5689del
NM_000314.7:c.503_539del	NP_000305.3:p.Ile168ThrfsTer3
NM_001304717.5:c.1022_1058del	NP_001291646.4:p.Ile341ThrfsTer3
NM_001304718.2:c.-89_-53del	NP_001291647.1:n.-89_-53del
NM_000314.8:c.503_539del MANE Select	NP_000305.3:p.Ile168ThrfsTer3