Canonical Allele Identifier: CA891836439

Gene: PTEN

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.87961038_87961039delinsAA , CM000672.2:g.87961038_87961039delinsAA	GRCh38
NC_000010.10:g.89720795_89720796delinsAA , CM000672.1:g.89720795_89720796delinsAA	GRCh37
NC_000010.9:g.89710775_89710776delinsAA	NCBI36
NG_007466.2:g.102600_102601delinsAA , LRG_311:g.102600_102601delinsAA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000700029.2:c.1039_1040delinsAA	ENSP00000514759.2:p.Leu347Lys
ENST00000710265.1:c.946_947delinsAA	ENSP00000518161.1:p.Leu316Lys
ENST00000472832.3:c.946_947delinsAA	ENSP00000483066.2:p.Leu316Lys
ENST00000688158.2:n.1681_1682delinsAA
ENST00000688922.2:c.*776_*777delinsAA	ENSP00000508742.2:n.*776_*777delinsAA
ENST00000700021.1:c.901_902delinsAA	ENSP00000514757.1:p.Leu301Lys
ENST00000700022.1:c.*285_*286delinsAA	ENSP00000514758.1:n.*285_*286delinsAA
ENST00000700023.1:n.2104_2105delinsAA
ENST00000700024.1:n.2338_2339delinsAA
ENST00000700025.1:n.1715_1716delinsAA
ENST00000700026.1:n.583_584delinsAA
ENST00000706954.1:c.946_947delinsAA	ENSP00000516674.1:p.Leu316Lys
ENST00000706955.1:c.*981_*982delinsAA	ENSP00000516675.1:n.*981_*982delinsAA
ENST00000686459.1:c.*532_*533delinsAA	ENSP00000508909.1:n.*532_*533delinsAA
ENST00000688158.1:c.*1057_*1058delinsAA	ENSP00000509254.1:n.*1057_*1058delinsAA
ENST00000688308.1:c.946_947delinsAA	ENSP00000508752.1:p.Leu316Lys
ENST00000688922.1:c.867_868delinsAA
ENST00000693560.1:c.1465_1466delinsAA	ENSP00000509861.1:p.Leu489Lys
ENST00000371953.8:c.946_947delinsAA MANE Select	ENSP00000361021.3:p.Leu316Lys
ENST00000371953.7:c.946_947delinsAA	ENSP00000361021.3:p.Leu316Lys
ENST00000472832.2:c.373_374delinsAA	ENSP00000483066.1:p.Leu125Lys
NM_000314.5:c.946_947delinsAA	NP_000305.3:p.Leu316Lys
NM_000314.6:c.946_947delinsAA	NP_000305.3:p.Leu316Lys
NM_001304717.2:c.1465_1466delinsAA	NP_001291646.2:p.Leu489Lys
NM_001304718.1:c.355_356delinsAA	NP_001291647.1:p.Leu119Lys
XM_006717926.2:c.901_902delinsAA	XP_006717989.1:p.Leu301Lys
XM_011539981.1:c.946_947delinsAA	XP_011538283.1:p.Leu316Lys
XM_011539982.1:c.850_851delinsAA	XP_011538284.1:p.Leu284Lys
XR_945791.1:n.1516_1517delinsAA
NM_000314.7:c.946_947delinsAA	NP_000305.3:p.Leu316Lys
NM_001304717.5:c.1465_1466delinsAA	NP_001291646.4:p.Leu489Lys
NM_001304718.2:c.355_356delinsAA	NP_001291647.1:p.Leu119Lys
NM_000314.8:c.946_947delinsAA MANE Select	NP_000305.3:p.Leu316Lys