Canonical Allele Identifier: CA2695200944

Gene: PTEN

Linked Data

• ClinVar Variation Id: 2674404
• ClinVar RCV Id: RCV003452600

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.87864538_87864548del , CM000672.2:g.87864538_87864548del	GRCh38
NC_000010.10:g.89624295_89624305del , CM000672.1:g.89624295_89624305del	GRCh37
NC_000010.9:g.89614275_89614285del	NCBI36
NG_007466.2:g.6100_6110del , LRG_311:g.6100_6110del
NG_033079.1:g.3891_3901del

Transcript Alleles

HGVS	Amino-acid change
ENST00000700029.2:c.69_79del	ENSP00000514759.2:p.Asp24TyrfsTer16
ENST00000710265.1:c.69_79del	ENSP00000518161.1:p.Asp24TyrfsTer16
ENST00000472832.3:c.69_79del	ENSP00000483066.2:p.Asp24TyrfsTer16
ENST00000688922.2:c.69_79del	ENSP00000508742.2:p.Asp24TyrfsTer16
ENST00000700021.1:c.69_79del	ENSP00000514757.1:p.Asp24TyrfsTer16
ENST00000700022.1:c.69_79del	ENSP00000514758.1:p.Asp24TyrfsTer16
ENST00000706954.1:c.69_79del	ENSP00000516674.1:p.Asp24TyrfsTer16
ENST00000706955.1:c.69_79del	ENSP00000516675.1:p.Asp24PhefsTer3
ENST00000686459.1:c.69_79del	ENSP00000508909.1:p.Asp24TyrfsTer16
ENST00000688158.1:c.69_79del	ENSP00000509254.1:p.Leu23PhefsTer9
ENST00000688308.1:c.69_79del	ENSP00000508752.1:p.Asp24TyrfsTer16
ENST00000693560.1:c.588_598del	ENSP00000509861.1:p.Asp197TyrfsTer16
ENST00000371953.8:c.69_79del MANE Select	ENSP00000361021.3:p.Asp24TyrfsTer16
ENST00000371953.7:c.69_79del	ENSP00000361021.3:p.Asp24TyrfsTer16
ENST00000462694.1:n.71_81del
ENST00000487939.1:n.90_100del
ENST00000610634.1:c.-34_-24del	ENSP00000477517.1:n.-34_-24del
ENST00000618586.1:n.38_48del
NM_000314.5:c.69_79del	NP_000305.3:p.Asp24TyrfsTer16
NM_000314.6:c.69_79del	NP_000305.3:p.Asp24TyrfsTer16
NM_001304717.2:c.588_598del	NP_001291646.2:p.Asp197TyrfsTer16
NM_001304718.1:c.-637_-627del	NP_001291647.1:n.-637_-627del
XM_006717926.2:c.69_79del	XP_006717989.1:p.Asp24TyrfsTer16
XM_011539981.1:c.69_79del	XP_011538283.1:p.Asp24TyrfsTer16
XR_945789.1:n.781_791del
XR_945790.1:n.781_791del
XR_945791.1:n.781_791del
NM_000314.7:c.69_79del	NP_000305.3:p.Asp24TyrfsTer16
NM_001304717.5:c.588_598del	NP_001291646.4:p.Asp197TyrfsTer16
NM_001304718.2:c.-637_-627del	NP_001291647.1:n.-637_-627del
NM_000314.8:c.69_79del MANE Select	NP_000305.3:p.Asp24TyrfsTer16