Canonical Allele Identifier: CA2695200917
Gene: PTEN HGNC NCBI

Linked Data

ClinVar Variation Id: 2674293
ClinVar RCV Id: RCV003452489

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.87925477_87925543del , CM000672.2:g.87925477_87925543del GRCh38
NC_000010.10:g.89685234_89685300del , CM000672.1:g.89685234_89685300del GRCh37
NC_000010.9:g.89675214_89675280del NCBI36
NG_007466.2:g.67039_67105del , LRG_311:g.67039_67105del

Transcript Alleles

HGVS Amino-acid change
ENST00000700029.2:c.165-36_195del
ENST00000710265.1:c.165-36_195del
ENST00000472832.3:c.165-36_195del
ENST00000688158.2:n.900-36_930del
ENST00000688922.2:c.165-36_195del
ENST00000700021.1:c.165-5569_165-5503del ENSP00000514757.1:n.165-5569_165-5503del
ENST00000700022.1:c.165-36_195del
ENST00000706954.1:c.165-36_195del
ENST00000706955.1:c.*200-36_*230del
ENST00000686459.1:c.165-36_195del
ENST00000688158.1:c.*276-36_*306del
ENST00000688308.1:c.165-36_195del
ENST00000688922.1:c.34-36_64del
ENST00000693560.1:c.684-36_714del
ENST00000371953.8:c.165-36_195del
ENST00000371953.7:c.165-36_195del
ENST00000610634.1:c.63-36_93del
NM_000314.5:c.165-36_195del
NM_000314.6:c.165-36_195del
NM_001304717.2:c.684-36_714del
NM_001304718.1:c.-541-5569_-541-5503del NP_001291647.1:n.-541-5569_-541-5503del
XM_006717926.2:c.165-5569_165-5503del XP_006717989.1:n.165-5569_165-5503del
XM_011539981.1:c.165-36_195del
XM_011539982.1:c.69-36_99del
XR_945789.1:n.877-36_907del
XR_945790.1:n.877-36_907del
XR_945791.1:n.877-36_907del
NM_000314.7:c.165-36_195del
NM_001304717.5:c.684-36_714del
NM_001304718.2:c.-541-5569_-541-5503del NP_001291647.1:n.-541-5569_-541-5503del
NM_000314.8:c.165-36_195del