Canonical Allele Identifier: CA211251887
Gene: PTEN HGNC NCBI

Linked Data

ClinVar Variation Id: 548858
ClinVar RCV Id: RCV000663022
dbSNP Id: rs1028746954

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.87960840_87960878del , CM000672.2:g.87960840_87960878del GRCh38
NC_000010.10:g.89720597_89720635del , CM000672.1:g.89720597_89720635del GRCh37
NC_000010.9:g.89710577_89710615del NCBI36
NG_007466.2:g.102402_102440del , LRG_311:g.102402_102440del

Transcript Alleles

HGVS Amino-acid change
ENST00000700029.2:c.895-54_895-16del ENSP00000514759.2:n.895-54_895-16del
ENST00000710265.1:c.802-54_802-16del ENSP00000518161.1:n.802-54_802-16del
ENST00000472832.3:c.802-54_802-16del ENSP00000483066.2:n.802-54_802-16del
ENST00000688158.2:n.1537-54_1537-16del
ENST00000688922.2:c.*632-54_*632-16del ENSP00000508742.2:n.*632-54_*632-16del
ENST00000700021.1:c.757-54_757-16del ENSP00000514757.1:n.757-54_757-16del
ENST00000700022.1:c.*141-54_*141-16del ENSP00000514758.1:n.*141-54_*141-16del
ENST00000700023.1:n.1960-54_1960-16del
ENST00000700024.1:n.2194-54_2194-16del
ENST00000700025.1:n.1571-54_1571-16del
ENST00000700026.1:n.439-54_439-16del
ENST00000700029.1:c.729-54_729-16del
ENST00000706954.1:c.802-54_802-16del ENSP00000516674.1:n.802-54_802-16del
ENST00000706955.1:c.*837-54_*837-16del ENSP00000516675.1:n.*837-54_*837-16del
ENST00000686459.1:c.*388-54_*388-16del ENSP00000508909.1:n.*388-54_*388-16del
ENST00000688158.1:c.*913-54_*913-16del ENSP00000509254.1:n.*913-54_*913-16del
ENST00000688308.1:c.802-54_802-16del ENSP00000508752.1:n.802-54_802-16del
ENST00000688922.1:c.723-54_723-16del
ENST00000693560.1:c.1321-54_1321-16del ENSP00000509861.1:n.1321-54_1321-16del
ENST00000371953.8:c.802-54_802-16del MANE Select ENSP00000361021.3:n.802-54_802-16del
ENST00000371953.7:c.802-54_802-16del ENSP00000361021.3:n.802-54_802-16del
ENST00000472832.2:c.229-54_229-16del ENSP00000483066.1:n.229-54_229-16del
NM_000314.5:c.802-54_802-16del NP_000305.3:n.802-54_802-16del
NM_000314.6:c.802-54_802-16del NP_000305.3:n.802-54_802-16del
NM_001304717.2:c.1321-54_1321-16del NP_001291646.2:n.1321-54_1321-16del
NM_001304718.1:c.211-54_211-16del NP_001291647.1:n.211-54_211-16del
XM_006717926.2:c.757-54_757-16del XP_006717989.1:n.757-54_757-16del
XM_011539981.1:c.802-54_802-16del XP_011538283.1:n.802-54_802-16del
XM_011539982.1:c.706-54_706-16del XP_011538284.1:n.706-54_706-16del
XR_945791.1:n.1372-54_1372-16del
NM_000314.7:c.802-54_802-16del NP_000305.3:n.802-54_802-16del
NM_001304717.5:c.1321-54_1321-16del NP_001291646.4:n.1321-54_1321-16del
NM_001304718.2:c.211-54_211-16del NP_001291647.1:n.211-54_211-16del
NM_000314.8:c.802-54_802-16del MANE Select NP_000305.3:n.802-54_802-16del