Canonical Allele Identifier: CA2580082145
Gene: PTEN HGNC NCBI

Linked Data

ClinVar Variation Id: 1771406
ClinVar RCV Id: RCV002396540

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.87863215_87864103del , CM000672.2:g.87863215_87864103del GRCh38
NC_000010.10:g.89622972_89623860del , CM000672.1:g.89622972_89623860del GRCh37
NC_000010.9:g.89612952_89613840del NCBI36
NG_007466.2:g.4778_5666del , LRG_311:g.4778_5666del
NG_033079.1:g.4335_5223del

Transcript Alleles

HGVS Amino-acid change
ENST00000706954.1:c.-17+573_-16-351del ENSP00000516674.1:n.-17+573_-16-351del
ENST00000688308.1:c.-17+102_-16-351del ENSP00000508752.1:n.-17+102_-16-351del
ENST00000371953.7:c.-1255_-367del ENSP00000361021.3:n.-1255_-367del