Canonical Allele Identifier: CA1139661610

Gene: PTEN

Linked Data

• ClinVar Variation Id: 872240
• ClinVar RCV Id: RCV001092600
• dbSNP Id: rs1860627982

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.87961038_87961039del , CM000672.2:g.87961038_87961039del	GRCh38
NC_000010.10:g.89720795_89720796del , CM000672.1:g.89720795_89720796del	GRCh37
NC_000010.9:g.89710775_89710776del	NCBI36
NG_007466.2:g.102600_102601del , LRG_311:g.102600_102601del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000700029.2:c.1039_1040del	ENSP00000514759.2:p.Leu347SerfsTer8
ENST00000710265.1:c.946_947del	ENSP00000518161.1:p.Leu316SerfsTer8
ENST00000472832.3:c.946_947del	ENSP00000483066.2:p.Leu316SerfsTer8
ENST00000688158.2:n.1681_1682del
ENST00000688922.2:c.*776_*777del	ENSP00000508742.2:n.*776_*777del
ENST00000700021.1:c.901_902del	ENSP00000514757.1:p.Leu301SerfsTer8
ENST00000700022.1:c.*285_*286del	ENSP00000514758.1:n.*285_*286del
ENST00000700023.1:n.2104_2105del
ENST00000700024.1:n.2338_2339del
ENST00000700025.1:n.1715_1716del
ENST00000700026.1:n.583_584del
ENST00000706954.1:c.946_947del	ENSP00000516674.1:p.Leu316SerfsTer8
ENST00000706955.1:c.*981_*982del	ENSP00000516675.1:n.*981_*982del
ENST00000686459.1:c.*532_*533del	ENSP00000508909.1:n.*532_*533del
ENST00000688158.1:c.*1057_*1058del	ENSP00000509254.1:n.*1057_*1058del
ENST00000688308.1:c.946_947del	ENSP00000508752.1:p.Leu316SerfsTer8
ENST00000688922.1:c.867_868del
ENST00000693560.1:c.1465_1466del	ENSP00000509861.1:p.Leu489SerfsTer8
ENST00000371953.8:c.946_947del MANE Select	ENSP00000361021.3:p.Leu316SerfsTer8
ENST00000371953.7:c.946_947del	ENSP00000361021.3:p.Leu316SerfsTer8
ENST00000472832.2:c.373_374del	ENSP00000483066.1:p.Leu125SerfsTer8
NM_000314.5:c.946_947del	NP_000305.3:p.Leu316SerfsTer8
NM_000314.6:c.946_947del	NP_000305.3:p.Leu316SerfsTer8
NM_001304717.2:c.1465_1466del	NP_001291646.2:p.Leu489SerfsTer8
NM_001304718.1:c.355_356del	NP_001291647.1:p.Leu119SerfsTer8
XM_006717926.2:c.901_902del	XP_006717989.1:p.Leu301SerfsTer8
XM_011539981.1:c.946_947del	XP_011538283.1:p.Leu316SerfsTer8
XM_011539982.1:c.850_851del	XP_011538284.1:p.Leu284SerfsTer8
XR_945791.1:n.1516_1517del
NM_000314.7:c.946_947del	NP_000305.3:p.Leu316SerfsTer8
NM_001304717.5:c.1465_1466del	NP_001291646.4:p.Leu489SerfsTer8
NM_001304718.2:c.355_356del	NP_001291647.1:p.Leu119SerfsTer8
NM_000314.8:c.946_947del MANE Select	NP_000305.3:p.Leu316SerfsTer8