Canonical Allele Identifier: CA2695200909

Gene: PTEN

Linked Data

• ClinVar Variation Id: 2673961
• ClinVar RCV Id: RCV003450568

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.87961022delinsAA , CM000672.2:g.87961022delinsAA	GRCh38
NC_000010.10:g.89720779delinsAA , CM000672.1:g.89720779delinsAA	GRCh37
NC_000010.9:g.89710759delinsAA	NCBI36
NG_007466.2:g.102584delinsAA , LRG_311:g.102584delinsAA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000700029.2:c.1023delinsAA	ENSP00000514759.2:p.Asp341GlufsTer3
ENST00000710265.1:c.930delinsAA	ENSP00000518161.1:p.Asp310GlufsTer3
ENST00000472832.3:c.930delinsAA	ENSP00000483066.2:p.Asp310GlufsTer3
ENST00000688158.2:n.1665delinsAA
ENST00000688922.2:c.*760delinsAA	ENSP00000508742.2:n.*760delinsAA
ENST00000700021.1:c.885delinsAA	ENSP00000514757.1:p.Asp295GlufsTer3
ENST00000700022.1:c.*269delinsAA	ENSP00000514758.1:n.*269delinsAA
ENST00000700023.1:n.2088delinsAA
ENST00000700024.1:n.2322delinsAA
ENST00000700025.1:n.1699delinsAA
ENST00000700026.1:n.567delinsAA
ENST00000706954.1:c.930delinsAA	ENSP00000516674.1:p.Asp310GlufsTer3
ENST00000706955.1:c.*965delinsAA	ENSP00000516675.1:n.*965delinsAA
ENST00000686459.1:c.*516delinsAA	ENSP00000508909.1:n.*516delinsAA
ENST00000688158.1:c.*1041delinsAA	ENSP00000509254.1:n.*1041delinsAA
ENST00000688308.1:c.930delinsAA	ENSP00000508752.1:p.Asp310GlufsTer3
ENST00000688922.1:c.851delinsAA
ENST00000693560.1:c.1449delinsAA	ENSP00000509861.1:p.Asp483GlufsTer3
ENST00000371953.8:c.930delinsAA MANE Select	ENSP00000361021.3:p.Asp310GlufsTer3
ENST00000371953.7:c.930delinsAA	ENSP00000361021.3:p.Asp310GlufsTer3
ENST00000472832.2:c.357delinsAA	ENSP00000483066.1:p.Asp119GlufsTer3
NM_000314.5:c.930delinsAA	NP_000305.3:p.Asp310GlufsTer3
NM_000314.6:c.930delinsAA	NP_000305.3:p.Asp310GlufsTer3
NM_001304717.2:c.1449delinsAA	NP_001291646.2:p.Asp483GlufsTer3
NM_001304718.1:c.339delinsAA	NP_001291647.1:p.Asp113GlufsTer3
XM_006717926.2:c.885delinsAA	XP_006717989.1:p.Asp295GlufsTer3
XM_011539981.1:c.930delinsAA	XP_011538283.1:p.Asp310GlufsTer3
XM_011539982.1:c.834delinsAA	XP_011538284.1:p.Asp278GlufsTer3
XR_945791.1:n.1500delinsAA
NM_000314.7:c.930delinsAA	NP_000305.3:p.Asp310GlufsTer3
NM_001304717.5:c.1449delinsAA	NP_001291646.4:p.Asp483GlufsTer3
NM_001304718.2:c.339delinsAA	NP_001291647.1:p.Asp113GlufsTer3
NM_000314.8:c.930delinsAA MANE Select	NP_000305.3:p.Asp310GlufsTer3