Canonical Allele Identifier: CA915947376
Gene: PTEN HGNC NCBI

Linked Data

ClinVar Variation Id: 827353
ClinVar RCV Id: RCV001026989
dbSNP Id: rs1589663644

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.87958013_87958020del , CM000672.2:g.87958013_87958020del GRCh38
NC_000010.10:g.89717770_89717777del , CM000672.1:g.89717770_89717777del GRCh37
NC_000010.9:g.89707750_89707757del NCBI36
NG_007466.2:g.99575_99582del , LRG_311:g.99575_99582del

Transcript Alleles

HGVS Amino-acid Change
ENST00000700029.2:c.795_801+1del
ENST00000710265.1:c.795_801+1del
ENST00000472832.3:c.795_801+1del
ENST00000688158.2:n.1530_1536+1del
ENST00000688922.2:c.*625_*631+1del
ENST00000700021.1:c.750_756+1del
ENST00000700022.1:c.*134_*140+1del
ENST00000700023.1:n.1953_1959+1del
ENST00000700024.1:n.2187_2193+1del
ENST00000700025.1:n.1564_1570+1del
ENST00000700026.1:n.432_438+1del
ENST00000700029.1:c.629_635+1del
ENST00000706954.1:c.795_801+1del
ENST00000706955.1:c.*830_*836+1del
ENST00000686459.1:c.*381_*387+1del
ENST00000688158.1:c.*906_*912+1del
ENST00000688308.1:c.795_801+1del
ENST00000688922.1:c.716_722+1del
ENST00000693560.1:c.1314_1320+1del
ENST00000371953.8:c.795_801+1del
ENST00000371953.7:c.795_801+1del
ENST00000472832.2:c.222_228+1del
NM_000314.5:c.795_801+1del
NM_000314.6:c.795_801+1del
NM_001304717.2:c.1314_1320+1del
NM_001304718.1:c.204_210+1del
XM_006717926.2:c.750_756+1del
XM_011539981.1:c.795_801+1del
XM_011539982.1:c.699_705+1del
XR_945791.1:n.1365_1371+1del
NM_000314.7:c.795_801+1del
NM_001304717.5:c.1314_1320+1del
NM_001304718.2:c.204_210+1del
NM_000314.8:c.795_801+1del