Canonical Allele Identifier: CA2695201001
Gene: PTEN HGNC NCBI

Linked Data

ClinVar Variation Id: 2674300
ClinVar RCV Id: RCV003452496

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.87933220_87933258del , CM000672.2:g.87933220_87933258del GRCh38
NC_000010.10:g.89692977_89693015del , CM000672.1:g.89692977_89693015del GRCh37
NC_000010.9:g.89682957_89682995del NCBI36
NG_007466.2:g.74782_74820del , LRG_311:g.74782_74820del

Transcript Alleles

HGVS Amino-acid Change
ENST00000700029.2:c.461_492+7del
ENST00000710265.1:c.461_492+7del
ENST00000472832.3:c.461_492+7del
ENST00000688158.2:n.1196_1227+7del
ENST00000688922.2:c.*291_*322+7del
ENST00000700021.1:c.416_447+7del
ENST00000700022.1:c.461_492+7del
ENST00000700029.1:c.295_326+7del
ENST00000706954.1:c.461_492+7del
ENST00000706955.1:c.*496_*527+7del
ENST00000686459.1:c.461_492+7del
ENST00000688158.1:c.*572_*603+7del
ENST00000688308.1:c.461_492+7del
ENST00000688922.1:c.382_413+7del
ENST00000693560.1:c.980_1011+7del
ENST00000371953.8:c.461_492+7del
ENST00000371953.7:c.461_492+7del
ENST00000498703.1:n.287_325del
ENST00000610634.1:c.359_390+7del
NM_000314.5:c.461_492+7del
NM_000314.6:c.461_492+7del
NM_001304717.2:c.980_1011+7del
NM_001304718.1:c.-290_-259+7del
XM_006717926.2:c.416_447+7del
XM_011539981.1:c.461_492+7del
XM_011539982.1:c.365_396+7del
XR_945789.1:n.1173_1204+7del
XR_945790.1:n.1173_1204+7del
XR_945791.1:n.1173_1204+7del
NM_000314.7:c.461_492+7del
NM_001304717.5:c.980_1011+7del
NM_001304718.2:c.-290_-259+7del
NM_000314.8:c.461_492+7del