Canonical Allele Identifier: CA2580082181
Gene: PTEN HGNC NCBI

Linked Data

ClinVar Variation Id: 1768056
ClinVar RCV Id: RCV002376751

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.87863496_87863602del , CM000672.2:g.87863496_87863602del GRCh38
NC_000010.10:g.89623253_89623359del , CM000672.1:g.89623253_89623359del GRCh37
NC_000010.9:g.89613233_89613339del NCBI36
NG_007466.2:g.5059_5165del , LRG_311:g.5059_5165del
NG_033079.1:g.4841_4947del

Transcript Alleles

HGVS Amino-acid change
ENST00000706954.1:c.-17+854_-16-852del ENSP00000516674.1:n.-17+854_-16-852del
ENST00000688308.1:c.-17+383_-17+489del ENSP00000508752.1:n.-17+383_-17+489del
ENST00000693560.1:c.-454_-348del ENSP00000509861.1:n.-454_-348del
ENST00000371953.7:c.-974_-868del ENSP00000361021.3:n.-974_-868del
ENST00000610634.1:c.-1076_-970del ENSP00000477517.1:n.-1076_-970del
NM_000314.5:c.-973_-867del NP_000305.3:n.-973_-867del
NM_000314.6:c.-973_-867del NP_000305.3:n.-973_-867del
NM_001304717.2:c.-454_-348del NP_001291646.2:n.-454_-348del
NM_001304718.1:c.-1678_-1572del NP_001291647.1:n.-1678_-1572del