Canonical Allele Identifier: CA2695200977

Gene: PTEN

Linked Data

• ClinVar Variation Id: 2673972
• ClinVar RCV Id: RCV003450578

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.87961102_87961106del , CM000672.2:g.87961102_87961106del	GRCh38
NC_000010.10:g.89720859_89720863del , CM000672.1:g.89720859_89720863del	GRCh37
NC_000010.9:g.89710839_89710843del	NCBI36
NG_007466.2:g.102664_102668del , LRG_311:g.102664_102668del

Transcript Alleles

HGVS	Amino-acid change
ENST00000700029.2:c.1103_1107del	ENSP00000514759.2:p.Phe368SerfsTer4
ENST00000710265.1:c.1010_1014del	ENSP00000518161.1:p.Phe337SerfsTer4
ENST00000472832.3:c.1010_1014del	ENSP00000483066.2:p.Phe337SerfsTer4
ENST00000688158.2:n.1745_1749del
ENST00000688922.2:c.*840_*844del	ENSP00000508742.2:n.*840_*844del
ENST00000700021.1:c.965_969del	ENSP00000514757.1:p.Phe322SerfsTer4
ENST00000700022.1:c.*349_*353del	ENSP00000514758.1:n.*349_*353del
ENST00000700023.1:n.2168_2172del
ENST00000700024.1:n.2402_2406del
ENST00000700025.1:n.1779_1783del
ENST00000700026.1:n.647_651del
ENST00000706954.1:c.1010_1014del	ENSP00000516674.1:p.Phe337SerfsTer4
ENST00000706955.1:c.*1045_*1049del	ENSP00000516675.1:n.*1045_*1049del
ENST00000686459.1:c.*596_*600del	ENSP00000508909.1:n.*596_*600del
ENST00000688158.1:c.*1121_*1125del	ENSP00000509254.1:n.*1121_*1125del
ENST00000688308.1:c.1010_1014del	ENSP00000508752.1:p.Phe337SerfsTer4
ENST00000688922.1:c.931_935del
ENST00000693560.1:c.1529_1533del	ENSP00000509861.1:p.Phe510SerfsTer4
ENST00000371953.8:c.1010_1014del MANE Select	ENSP00000361021.3:p.Phe337SerfsTer4
ENST00000371953.7:c.1010_1014del	ENSP00000361021.3:p.Phe337SerfsTer4
ENST00000472832.2:c.437_441del	ENSP00000483066.1:p.Phe146SerfsTer4
NM_000314.5:c.1010_1014del	NP_000305.3:p.Phe337SerfsTer4
NM_000314.6:c.1010_1014del	NP_000305.3:p.Phe337SerfsTer4
NM_001304717.2:c.1529_1533del	NP_001291646.2:p.Phe510SerfsTer4
NM_001304718.1:c.419_423del	NP_001291647.1:p.Phe140SerfsTer4
XM_006717926.2:c.965_969del	XP_006717989.1:p.Phe322SerfsTer4
XM_011539981.1:c.1010_1014del	XP_011538283.1:p.Phe337SerfsTer4
XM_011539982.1:c.914_918del	XP_011538284.1:p.Phe305SerfsTer4
XR_945791.1:n.1580_1584del
NM_000314.7:c.1010_1014del	NP_000305.3:p.Phe337SerfsTer4
NM_001304717.5:c.1529_1533del	NP_001291646.4:p.Phe510SerfsTer4
NM_001304718.2:c.419_423del	NP_001291647.1:p.Phe140SerfsTer4
NM_000314.8:c.1010_1014del MANE Select	NP_000305.3:p.Phe337SerfsTer4