Canonical Allele Identifier: CA2580082154
Gene: PTEN HGNC NCBI

Linked Data

ClinVar Variation Id: 1723890
ClinVar RCV Id: RCV002306445

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.87952113_87952153del , CM000672.2:g.87952113_87952153del GRCh38
NC_000010.10:g.89711870_89711910del , CM000672.1:g.89711870_89711910del GRCh37
NC_000010.9:g.89701850_89701890del NCBI36
NG_007466.2:g.93675_93715del , LRG_311:g.93675_93715del

Transcript Alleles

HGVS Amino-acid change
ENST00000700029.2:c.493-5_528del
ENST00000710265.1:c.493-5_528del
ENST00000472832.3:c.493-5_528del
ENST00000688158.2:n.1228-5_1263del
ENST00000688922.2:c.*323-5_*358del
ENST00000700021.1:c.448-5_483del
ENST00000700022.1:c.493-5740_493-5700del ENSP00000514758.1:n.493-5740_493-5700del
ENST00000700023.1:n.1651-5_1686del
ENST00000700024.1:n.1880_1920del
ENST00000700025.1:n.1257_1297del
ENST00000700029.1:c.327-5_362del
ENST00000706954.1:c.493-5_528del
ENST00000706955.1:c.*528-5_*563del
ENST00000686459.1:c.*79-5_*114del
ENST00000688158.1:c.*604-5_*639del
ENST00000688308.1:c.493-5_528del
ENST00000688922.1:c.414-5_449del
ENST00000693560.1:c.1012-5_1047del
ENST00000371953.8:c.493-5_528del
ENST00000371953.7:c.493-5_528del
NM_000314.5:c.493-5_528del
NM_000314.6:c.493-5_528del
NM_001304717.2:c.1012-5_1047del
NM_001304718.1:c.-99-5_-64del
XM_006717926.2:c.448-5_483del
XM_011539981.1:c.493-5_528del
XM_011539982.1:c.397-5_432del
XR_945789.1:n.1364-5_1399del
XR_945790.1:n.1481-5_1516del
XR_945791.1:n.1205-5740_1205-5700del
NM_000314.7:c.493-5_528del
NM_001304717.5:c.1012-5_1047del
NM_001304718.2:c.-99-5_-64del
NM_000314.8:c.493-5_528del