Canonical Allele Identifier: CA2580082148
Gene: PTEN HGNC NCBI

Linked Data

ClinVar Variation Id: 1744207
ClinVar RCV Id: RCV002342638

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.87952098_87952122del , CM000672.2:g.87952098_87952122del GRCh38
NC_000010.10:g.89711855_89711879del , CM000672.1:g.89711855_89711879del GRCh37
NC_000010.9:g.89701835_89701859del NCBI36
NG_007466.2:g.93660_93684del , LRG_311:g.93660_93684del

Transcript Alleles

HGVS Amino-acid Change
ENST00000700029.2:c.493-20_497del
ENST00000710265.1:c.493-20_497del
ENST00000472832.3:c.493-20_497del
ENST00000688158.2:n.1228-20_1232del
ENST00000688922.2:c.*323-20_*327del
ENST00000700021.1:c.448-20_452del
ENST00000700022.1:c.493-5755_493-5731del ENSP00000514758.1:n.493-5755_493-5731del
ENST00000700023.1:n.1651-20_1655del
ENST00000700024.1:n.1865_1889del
ENST00000700025.1:n.1242_1266del
ENST00000700029.1:c.327-20_331del
ENST00000706954.1:c.493-20_497del
ENST00000706955.1:c.*528-20_*532del
ENST00000686459.1:c.*79-20_*83del
ENST00000688158.1:c.*604-20_*608del
ENST00000688308.1:c.493-20_497del
ENST00000688922.1:c.414-20_418del
ENST00000693560.1:c.1012-20_1016del
ENST00000371953.8:c.493-20_497del
ENST00000371953.7:c.493-20_497del
NM_000314.5:c.493-20_497del
NM_000314.6:c.493-20_497del
NM_001304717.2:c.1012-20_1016del
NM_001304718.1:c.-99-20_-95del
XM_006717926.2:c.448-20_452del
XM_011539981.1:c.493-20_497del
XM_011539982.1:c.397-20_401del
XR_945789.1:n.1364-20_1368del
XR_945790.1:n.1481-20_1485del
XR_945791.1:n.1205-5755_1205-5731del
NM_000314.7:c.493-20_497del
NM_001304717.5:c.1012-20_1016del
NM_001304718.2:c.-99-20_-95del
NM_000314.8:c.493-20_497del