Canonical Allele Identifier: CA2580082222
Gene: PTEN HGNC NCBI
MLDHR HGNC NCBI

Linked Data

ClinVar Variation Id: 1809572
ClinVar RCV Id: RCV002488672
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Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.87863610del , CM000672.2:g.87863610del GRCh38
NC_000010.10:g.89623367del , CM000672.1:g.89623367del GRCh37
NC_000010.9:g.89613347del NCBI36
NG_007466.2:g.5173del , LRG_311:g.5173del
NG_033079.1:g.4828del

Transcript Alleles

HGVS Amino-acid Change
ENST00000706954.1:c.-16-844del (PTEN) ENSP00000516674.1:n.-16-844del
ENST00000688308.1:c.-17+497del (PTEN) ENSP00000508752.1:n.-17+497del
ENST00000692337.1:c.52del (MLDHR) ENSP00000509326.1:p.Thr18ArgfsTer?
ENST00000693560.1:c.-340del (PTEN) ENSP00000509861.1:n.-340del
ENST00000371953.7:c.-860del (PTEN) ENSP00000361021.3:n.-860del
ENST00000610634.1:c.-962del (PTEN) ENSP00000477517.1:n.-962del
NM_000314.5:c.-859del (PTEN) NP_000305.3:n.-859del
NM_000314.6:c.-859del (PTEN) NP_000305.3:n.-859del
NM_001304717.2:c.-340del (PTEN) NP_001291646.2:n.-340del
NM_001304718.1:c.-1564del (PTEN) NP_001291647.1:n.-1564del
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