Canonical Allele Identifier: CA2499220475

Gene: PTEN

Linked Data

• ClinVar Variation Id: 1067514
• ClinVar RCV Id: RCV001378807
• dbSNP Id: rs2132289992

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.87965399del , CM000672.2:g.87965399del	GRCh38
NC_000010.10:g.89725156del , CM000672.1:g.89725156del	GRCh37
NC_000010.9:g.89715136del	NCBI36
NG_007466.2:g.106961del , LRG_311:g.106961del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000700029.2:c.1232del	ENSP00000514759.2:p.Ser411LeufsTer?
ENST00000710265.1:c.*168del	ENSP00000518161.1:n.*168del
ENST00000688158.2:n.1874del
ENST00000688922.2:c.*969del	ENSP00000508742.2:n.*969del
ENST00000700021.1:c.1094del	ENSP00000514757.1:p.Ser365LeufsTer?
ENST00000700022.1:c.*478del	ENSP00000514758.1:n.*478del
ENST00000700023.1:n.2297del
ENST00000700024.1:n.2531del
ENST00000706954.1:c.1139del	ENSP00000516674.1:p.Ser380LeufsTer?
ENST00000706955.1:c.*1174del	ENSP00000516675.1:n.*1174del
ENST00000686459.1:c.*725del	ENSP00000508909.1:n.*725del
ENST00000688158.1:c.*1250del	ENSP00000509254.1:n.*1250del
ENST00000688308.1:c.1139del	ENSP00000508752.1:p.Ser380LeufsTer?
ENST00000688922.1:c.1060del
ENST00000693560.1:c.1658del	ENSP00000509861.1:p.Ser553LeufsTer?
ENST00000371953.8:c.1139del MANE Select	ENSP00000361021.3:p.Ser380LeufsTer?
ENST00000371953.7:c.1139del	ENSP00000361021.3:p.Ser380LeufsTer?
NM_000314.5:c.1139del	NP_000305.3:p.Ser380LeufsTer?
NM_000314.6:c.1139del	NP_000305.3:p.Ser380LeufsTer?
NM_001304717.2:c.1658del	NP_001291646.2:p.Ser553LeufsTer?
NM_001304718.1:c.548del	NP_001291647.1:p.Ser183LeufsTer?
XM_006717926.2:c.1094del	XP_006717989.1:p.Ser365LeufsTer?
XM_011539982.1:c.1043del	XP_011538284.1:p.Ser348LeufsTer?
XR_945791.1:n.1709del
NM_000314.7:c.1139del	NP_000305.3:p.Ser380LeufsTer?
NM_001304717.5:c.1658del	NP_001291646.4:p.Ser553LeufsTer?
NM_001304718.2:c.548del	NP_001291647.1:p.Ser183LeufsTer?
NM_000314.8:c.1139del MANE Select	NP_000305.3:p.Ser380LeufsTer?