Canonical Allele Identifier: CA915947316
Gene: PTEN HGNC NCBI
MLDHR HGNC NCBI

Linked Data

ClinVar Variation Id: 822925
ClinVar RCV Id: RCV001018698
dbSNP Id: rs786204888
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.87863566_87863587del , CM000672.2:g.87863566_87863587del GRCh38
NC_000010.10:g.89623323_89623344del , CM000672.1:g.89623323_89623344del GRCh37
NC_000010.9:g.89613303_89613324del NCBI36
NG_007466.2:g.5129_5150del , LRG_311:g.5129_5150del
NG_033079.1:g.4854_4875del

Transcript Alleles

HGVS Amino-acid Change
ENST00000706954.1:c.-16-888_-16-867del (PTEN) ENSP00000516674.1:n.-16-888_-16-867del
ENST00000688308.1:c.-17+453_-17+474del (PTEN) ENSP00000508752.1:n.-17+453_-17+474del
ENST00000692337.1:c.8_29del (MLDHR) ENSP00000509326.1:p.Arg3GlnfsTer?
ENST00000693560.1:c.-384_-363del (PTEN) ENSP00000509861.1:n.-384_-363del
ENST00000371953.7:c.-904_-883del (PTEN) ENSP00000361021.3:n.-904_-883del
ENST00000610634.1:c.-1006_-985del (PTEN) ENSP00000477517.1:n.-1006_-985del
NM_000314.5:c.-903_-882del (PTEN) NP_000305.3:n.-903_-882del
NM_000314.6:c.-903_-882del (PTEN) NP_000305.3:n.-903_-882del
NM_001304717.2:c.-384_-363del (PTEN) NP_001291646.2:n.-384_-363del
NM_001304718.1:c.-1608_-1587del (PTEN) NP_001291647.1:n.-1608_-1587del
Search 100 bp 5'
Search 100 bp 3'