Canonical Allele Identifier: CA2582342716

Gene: PTEN

Linked Data

• ClinVar Variation Id: 2587205
• ClinVar RCV Id: RCV003360733

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.87957890_87957893del , CM000672.2:g.87957890_87957893del	GRCh38
NC_000010.10:g.89717647_89717650del , CM000672.1:g.89717647_89717650del	GRCh37
NC_000010.9:g.89707627_89707630del	NCBI36
NG_007466.2:g.99452_99455del , LRG_311:g.99452_99455del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000700029.2:c.672_675del	ENSP00000514759.2:p.Tyr225ProfsTer?
ENST00000710265.1:c.672_675del	ENSP00000518161.1:p.Tyr225ProfsTer?
ENST00000472832.3:c.672_675del	ENSP00000483066.2:p.Tyr225ProfsTer?
ENST00000688158.2:n.1407_1410del
ENST00000688922.2:c.*502_*505del	ENSP00000508742.2:n.*502_*505del
ENST00000700021.1:c.627_630del	ENSP00000514757.1:p.Tyr210ProfsTer?
ENST00000700022.1:c.*11_*14del	ENSP00000514758.1:n.*11_*14del
ENST00000700023.1:n.1830_1833del
ENST00000700024.1:n.2064_2067del
ENST00000700025.1:n.1441_1444del
ENST00000700026.1:n.309_312del
ENST00000700029.1:c.506_509del
ENST00000706954.1:c.672_675del	ENSP00000516674.1:p.Tyr225ProfsTer?
ENST00000706955.1:c.*707_*710del	ENSP00000516675.1:n.*707_*710del
ENST00000686459.1:c.*258_*261del	ENSP00000508909.1:n.*258_*261del
ENST00000688158.1:c.*783_*786del	ENSP00000509254.1:n.*783_*786del
ENST00000688308.1:c.672_675del	ENSP00000508752.1:p.Tyr225ProfsTer?
ENST00000688922.1:c.593_596del
ENST00000693560.1:c.1191_1194del	ENSP00000509861.1:p.Tyr398ProfsTer?
ENST00000371953.8:c.672_675del MANE Select	ENSP00000361021.3:p.Tyr225ProfsTer?
ENST00000371953.7:c.672_675del	ENSP00000361021.3:p.Tyr225ProfsTer?
ENST00000472832.2:c.99_102del	ENSP00000483066.1:p.Tyr34ProfsTer?
NM_000314.5:c.672_675del	NP_000305.3:p.Tyr225ProfsTer?
NM_000314.6:c.672_675del	NP_000305.3:p.Tyr225ProfsTer?
NM_001304717.2:c.1191_1194del	NP_001291646.2:p.Tyr398ProfsTer?
NM_001304718.1:c.81_84del	NP_001291647.1:p.Tyr28ProfsTer?
XM_006717926.2:c.627_630del	XP_006717989.1:p.Tyr210ProfsTer?
XM_011539981.1:c.672_675del	XP_011538283.1:p.Tyr225ProfsTer?
XM_011539982.1:c.576_579del	XP_011538284.1:p.Tyr193ProfsTer?
XR_945791.1:n.1242_1245del
NM_000314.7:c.672_675del	NP_000305.3:p.Tyr225ProfsTer?
NM_001304717.5:c.1191_1194del	NP_001291646.4:p.Tyr398ProfsTer?
NM_001304718.2:c.81_84del	NP_001291647.1:p.Tyr28ProfsTer?
NM_000314.8:c.672_675del MANE Select	NP_000305.3:p.Tyr225ProfsTer?