Canonical Allele Identifier: CA658797503
Gene: PTEN HGNC NCBI
MLDHR HGNC NCBI

Linked Data

ClinVar Variation Id: 503747
ClinVar RCV Id: RCV000598709 RCV003117370
dbSNP Id: rs1554889944
MyVariant Identifiers: chr10:g.89623334del (hg19) chr10:g.87863577del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.87863577del , CM000672.2:g.87863577del GRCh38
NC_000010.10:g.89623334del , CM000672.1:g.89623334del GRCh37
NC_000010.9:g.89613314del NCBI36
NG_007466.2:g.5140del , LRG_311:g.5140del
NG_033079.1:g.4861del

Transcript Alleles

HGVS Amino-acid Change
ENST00000706954.1:c.-16-877del (PTEN) ENSP00000516674.1:n.-16-877del
ENST00000688308.1:c.-17+464del (PTEN) ENSP00000508752.1:n.-17+464del
ENST00000692337.1:c.19del (MLDHR) ENSP00000509326.1:p.Cys7AlafsTer?
ENST00000693560.1:c.-373del (PTEN) ENSP00000509861.1:n.-373del
ENST00000371953.7:c.-893del (PTEN) ENSP00000361021.3:n.-893del
ENST00000610634.1:c.-995del (PTEN) ENSP00000477517.1:n.-995del
NM_000314.5:c.-892del (PTEN) NP_000305.3:n.-892del
NM_000314.6:c.-892del (PTEN) NP_000305.3:n.-892del
NM_001304717.2:c.-373del (PTEN) NP_001291646.2:n.-373del
NM_001304718.1:c.-1597del (PTEN) NP_001291647.1:n.-1597del
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