Canonical Allele Identifier: CA2610049191

Gene: PTEN

Linked Data

• gnomAD v4: 10-87965440-GA-G

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.87965442del , CM000672.2:g.87965442del	GRCh38
NC_000010.10:g.89725199del , CM000672.1:g.89725199del	GRCh37
NC_000010.9:g.89715179del	NCBI36
NG_007466.2:g.107004del , LRG_311:g.107004del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000700029.2:c.1275del	ENSP00000514759.2:p.Asp426IlefsTer21
ENST00000710265.1:c.*211del	ENSP00000518161.1:n.*211del
ENST00000688158.2:n.1917del
ENST00000688922.2:c.*1012del	ENSP00000508742.2:n.*1012del
ENST00000700021.1:c.1137del	ENSP00000514757.1:p.Asp380IlefsTer21
ENST00000700022.1:c.*521del	ENSP00000514758.1:n.*521del
ENST00000700023.1:n.2340del
ENST00000700024.1:n.2574del
ENST00000706954.1:c.1182del	ENSP00000516674.1:p.Asp395IlefsTer21
ENST00000706955.1:c.*1217del	ENSP00000516675.1:n.*1217del
ENST00000686459.1:c.*768del	ENSP00000508909.1:n.*768del
ENST00000688158.1:c.*1293del	ENSP00000509254.1:n.*1293del
ENST00000688308.1:c.1182del	ENSP00000508752.1:p.Asp395IlefsTer21
ENST00000688922.1:c.1103del
ENST00000693560.1:c.1701del	ENSP00000509861.1:p.Asp568IlefsTer21
ENST00000371953.8:c.1182del MANE Select	ENSP00000361021.3:p.Asp395IlefsTer21
ENST00000371953.7:c.1182del	ENSP00000361021.3:p.Asp395IlefsTer21
NM_000314.5:c.1182del	NP_000305.3:p.Asp395IlefsTer21
NM_000314.6:c.1182del	NP_000305.3:p.Asp395IlefsTer21
NM_001304717.2:c.1701del	NP_001291646.2:p.Asp568IlefsTer21
NM_001304718.1:c.591del	NP_001291647.1:p.Asp198IlefsTer21
XM_006717926.2:c.1137del	XP_006717989.1:p.Asp380IlefsTer21
XM_011539982.1:c.1086del	XP_011538284.1:p.Asp363IlefsTer21
XR_945791.1:n.1752del
NM_000314.7:c.1182del	NP_000305.3:p.Asp395IlefsTer21
NM_001304717.5:c.1701del	NP_001291646.4:p.Asp568IlefsTer21
NM_001304718.2:c.591del	NP_001291647.1:p.Asp198IlefsTer21
NM_000314.8:c.1182del MANE Select	NP_000305.3:p.Asp395IlefsTer21