Canonical Allele Identifier: CA2697558630

Gene: PTEN

Linked Data

• ClinVar Variation Id: 2762227
• ClinVar RCV Id: RCV003510178

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.87961072_87961073del , CM000672.2:g.87961072_87961073del	GRCh38
NC_000010.10:g.89720829_89720830del , CM000672.1:g.89720829_89720830del	GRCh37
NC_000010.9:g.89710809_89710810del	NCBI36
NG_007466.2:g.102634_102635del , LRG_311:g.102634_102635del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000700029.2:c.1073_1074del	ENSP00000514759.2:p.Lys358SerfsTer3
ENST00000710265.1:c.980_981del	ENSP00000518161.1:p.Lys327SerfsTer3
ENST00000472832.3:c.980_981del	ENSP00000483066.2:p.Lys327SerfsTer3
ENST00000688158.2:n.1715_1716del
ENST00000688922.2:c.*810_*811del	ENSP00000508742.2:n.*810_*811del
ENST00000700021.1:c.935_936del	ENSP00000514757.1:p.Lys312SerfsTer3
ENST00000700022.1:c.*319_*320del	ENSP00000514758.1:n.*319_*320del
ENST00000700023.1:n.2138_2139del
ENST00000700024.1:n.2372_2373del
ENST00000700025.1:n.1749_1750del
ENST00000700026.1:n.617_618del
ENST00000706954.1:c.980_981del	ENSP00000516674.1:p.Lys327SerfsTer3
ENST00000706955.1:c.*1015_*1016del	ENSP00000516675.1:n.*1015_*1016del
ENST00000686459.1:c.*566_*567del	ENSP00000508909.1:n.*566_*567del
ENST00000688158.1:c.*1091_*1092del	ENSP00000509254.1:n.*1091_*1092del
ENST00000688308.1:c.980_981del	ENSP00000508752.1:p.Lys327SerfsTer3
ENST00000688922.1:c.901_902del
ENST00000693560.1:c.1499_1500del	ENSP00000509861.1:p.Lys500SerfsTer3
ENST00000371953.8:c.980_981del MANE Select	ENSP00000361021.3:p.Lys327SerfsTer3
ENST00000371953.7:c.980_981del	ENSP00000361021.3:p.Lys327SerfsTer3
ENST00000472832.2:c.407_408del	ENSP00000483066.1:p.Lys136SerfsTer3
NM_000314.5:c.980_981del	NP_000305.3:p.Lys327SerfsTer3
NM_000314.6:c.980_981del	NP_000305.3:p.Lys327SerfsTer3
NM_001304717.2:c.1499_1500del	NP_001291646.2:p.Lys500SerfsTer3
NM_001304718.1:c.389_390del	NP_001291647.1:p.Lys130SerfsTer3
XM_006717926.2:c.935_936del	XP_006717989.1:p.Lys312SerfsTer3
XM_011539981.1:c.980_981del	XP_011538283.1:p.Lys327SerfsTer3
XM_011539982.1:c.884_885del	XP_011538284.1:p.Lys295SerfsTer3
XR_945791.1:n.1550_1551del
NM_000314.7:c.980_981del	NP_000305.3:p.Lys327SerfsTer3
NM_001304717.5:c.1499_1500del	NP_001291646.4:p.Lys500SerfsTer3
NM_001304718.2:c.389_390del	NP_001291647.1:p.Lys130SerfsTer3
NM_000314.8:c.980_981del MANE Select	NP_000305.3:p.Lys327SerfsTer3