Canonical Allele Identifier: CA2697558636

Gene: PTEN

Linked Data

• ClinVar Variation Id: 2707184
• ClinVar RCV Id: RCV003510669

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.87957877_87957883del , CM000672.2:g.87957877_87957883del	GRCh38
NC_000010.10:g.89717634_89717640del , CM000672.1:g.89717634_89717640del	GRCh37
NC_000010.9:g.89707614_89707620del	NCBI36
NG_007466.2:g.99439_99445del , LRG_311:g.99439_99445del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000700029.2:c.659_665del	ENSP00000514759.2:p.Leu220ArgfsTer?
ENST00000710265.1:c.659_665del	ENSP00000518161.1:p.Leu220ArgfsTer?
ENST00000472832.3:c.659_665del	ENSP00000483066.2:p.Leu220ArgfsTer?
ENST00000688158.2:n.1394_1400del
ENST00000688922.2:c.*489_*495del	ENSP00000508742.2:n.*489_*495del
ENST00000700021.1:c.614_620del	ENSP00000514757.1:p.Leu205ArgfsTer?
ENST00000700022.1:c.517_*4del	ENSP00000514758.1:n.[c.517_*4del;Ter173GluextTer20]
ENST00000700023.1:n.1817_1823del
ENST00000700024.1:n.2051_2057del
ENST00000700025.1:n.1428_1434del
ENST00000700026.1:n.296_302del
ENST00000700029.1:c.493_499del
ENST00000706954.1:c.659_665del	ENSP00000516674.1:p.Leu220ArgfsTer?
ENST00000706955.1:c.*694_*700del	ENSP00000516675.1:n.*694_*700del
ENST00000686459.1:c.*245_*251del	ENSP00000508909.1:n.*245_*251del
ENST00000688158.1:c.*770_*776del	ENSP00000509254.1:n.*770_*776del
ENST00000688308.1:c.659_665del	ENSP00000508752.1:p.Leu220ArgfsTer?
ENST00000688922.1:c.580_586del
ENST00000693560.1:c.1178_1184del	ENSP00000509861.1:p.Leu393ArgfsTer?
ENST00000371953.8:c.659_665del MANE Select	ENSP00000361021.3:p.Leu220ArgfsTer?
ENST00000371953.7:c.659_665del	ENSP00000361021.3:p.Leu220ArgfsTer?
ENST00000472832.2:c.86_92del	ENSP00000483066.1:p.Leu29ArgfsTer?
NM_000314.5:c.659_665del	NP_000305.3:p.Leu220ArgfsTer?
NM_000314.6:c.659_665del	NP_000305.3:p.Leu220ArgfsTer?
NM_001304717.2:c.1178_1184del	NP_001291646.2:p.Leu393ArgfsTer?
NM_001304718.1:c.68_74del	NP_001291647.1:p.Leu23ArgfsTer?
XM_006717926.2:c.614_620del	XP_006717989.1:p.Leu205ArgfsTer?
XM_011539981.1:c.659_665del	XP_011538283.1:p.Leu220ArgfsTer?
XM_011539982.1:c.563_569del	XP_011538284.1:p.Leu188ArgfsTer?
XR_945791.1:n.1229_1235del
NM_000314.7:c.659_665del	NP_000305.3:p.Leu220ArgfsTer?
NM_001304717.5:c.1178_1184del	NP_001291646.4:p.Leu393ArgfsTer?
NM_001304718.2:c.68_74del	NP_001291647.1:p.Leu23ArgfsTer?
NM_000314.8:c.659_665del MANE Select	NP_000305.3:p.Leu220ArgfsTer?