Canonical Allele Identifier: CA891834553

Gene: PTEN

Linked Data

• ClinVar Variation Id: 2587204
• ClinVar RCV Id: RCV003360732

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.87894030_87894031delinsAT , CM000672.2:g.87894030_87894031delinsAT	GRCh38
NC_000010.10:g.89653787_89653788delinsAT , CM000672.1:g.89653787_89653788delinsAT	GRCh37
NC_000010.9:g.89643767_89643768delinsAT	NCBI36
NG_007466.2:g.35592_35593delinsAT , LRG_311:g.35592_35593delinsAT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000700029.2:c.85_86delinsAT	ENSP00000514759.2:p.Tyr29Ile
ENST00000710265.1:c.85_86delinsAT	ENSP00000518161.1:p.Tyr29Ile
ENST00000472832.3:c.85_86delinsAT	ENSP00000483066.2:p.Tyr29Ile
ENST00000688158.2:n.899+13592_899+13593delinsAT
ENST00000688922.2:c.85_86delinsAT	ENSP00000508742.2:p.Tyr29Ile
ENST00000700021.1:c.85_86delinsAT	ENSP00000514757.1:p.Tyr29Ile
ENST00000700022.1:c.85_86delinsAT	ENSP00000514758.1:p.Tyr29Ile
ENST00000706954.1:c.85_86delinsAT	ENSP00000516674.1:p.Tyr29Ile
ENST00000706955.1:c.*120_*121delinsAT	ENSP00000516675.1:n.*120_*121delinsAT
ENST00000686459.1:c.85_86delinsAT	ENSP00000508909.1:p.Tyr29Ile
ENST00000688158.1:c.*275+13592_*275+13593delinsAT	ENSP00000509254.1:n.*275+13592_*275+13593delinsAT
ENST00000688308.1:c.85_86delinsAT	ENSP00000508752.1:p.Tyr29Ile
ENST00000693560.1:c.604_605delinsAT	ENSP00000509861.1:p.Tyr202Ile
ENST00000371953.8:c.85_86delinsAT MANE Select	ENSP00000361021.3:p.Tyr29Ile
ENST00000371953.7:c.85_86delinsAT	ENSP00000361021.3:p.Tyr29Ile
ENST00000462694.1:n.87_88delinsAT
ENST00000610634.1:c.-18_-17delinsAT	ENSP00000477517.1:n.-18_-17delinsAT
NM_000314.5:c.85_86delinsAT	NP_000305.3:p.Tyr29Ile
NM_000314.6:c.85_86delinsAT	NP_000305.3:p.Tyr29Ile
NM_001304717.2:c.604_605delinsAT	NP_001291646.2:p.Tyr202Ile
NM_001304718.1:c.-621_-620delinsAT	NP_001291647.1:n.-621_-620delinsAT
XM_006717926.2:c.85_86delinsAT	XP_006717989.1:p.Tyr29Ile
XM_011539981.1:c.85_86delinsAT	XP_011538283.1:p.Tyr29Ile
XM_011539982.1:c.68+13592_68+13593delinsAT	XP_011538284.1:n.68+13592_68+13593delinsAT
XR_945789.1:n.797_798delinsAT
XR_945790.1:n.797_798delinsAT
XR_945791.1:n.797_798delinsAT
NM_000314.7:c.85_86delinsAT	NP_000305.3:p.Tyr29Ile
NM_001304717.5:c.604_605delinsAT	NP_001291646.4:p.Tyr202Ile
NM_001304718.2:c.-621_-620delinsAT	NP_001291647.1:n.-621_-620delinsAT
NM_000314.8:c.85_86delinsAT MANE Select	NP_000305.3:p.Tyr29Ile