Canonical Allele Identifier: CA915947317
Gene: PTEN HGNC NCBI
MLDHR HGNC NCBI

Linked Data

ClinVar Variation Id: 822915
ClinVar RCV Id: RCV001018685 RCV003235447
dbSNP Id: rs1589594168
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Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.87863568del , CM000672.2:g.87863568del GRCh38
NC_000010.10:g.89623325del , CM000672.1:g.89623325del GRCh37
NC_000010.9:g.89613305del NCBI36
NG_007466.2:g.5131del , LRG_311:g.5131del
NG_033079.1:g.4872del

Transcript Alleles

HGVS Amino-acid Change
ENST00000706954.1:c.-16-886del (PTEN) ENSP00000516674.1:n.-16-886del
ENST00000688308.1:c.-17+455del (PTEN) ENSP00000508752.1:n.-17+455del
ENST00000692337.1:c.10del (MLDHR) ENSP00000509326.1:p.Asp4ThrfsTer?
ENST00000693560.1:c.-382del (PTEN) ENSP00000509861.1:n.-382del
ENST00000371953.7:c.-902del (PTEN) ENSP00000361021.3:n.-902del
ENST00000610634.1:c.-1004del (PTEN) ENSP00000477517.1:n.-1004del
NM_000314.5:c.-901del (PTEN) NP_000305.3:n.-901del
NM_000314.6:c.-901del (PTEN) NP_000305.3:n.-901del
NM_001304717.2:c.-382del (PTEN) NP_001291646.2:n.-382del
NM_001304718.1:c.-1606del (PTEN) NP_001291647.1:n.-1606del
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