Canonical Allele Identifier: CA915947320
Gene: PTEN HGNC NCBI
MLDHR HGNC NCBI

Linked Data

ClinVar Variation Id: 822846
ClinVar RCV Id: RCV001018552
dbSNP Id: rs1589594181
gnomAD v4: 10-87863572-CTT-C
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Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.87863574_87863575del , CM000672.2:g.87863574_87863575del GRCh38
NC_000010.10:g.89623331_89623332del , CM000672.1:g.89623331_89623332del GRCh37
NC_000010.9:g.89613311_89613312del NCBI36
NG_007466.2:g.5137_5138del , LRG_311:g.5137_5138del
NG_033079.1:g.4864_4865del

Transcript Alleles

HGVS Amino-acid Change
ENST00000706954.1:c.-16-880_-16-879del (PTEN) ENSP00000516674.1:n.-16-880_-16-879del
ENST00000688308.1:c.-17+461_-17+462del (PTEN) ENSP00000508752.1:n.-17+461_-17+462del
ENST00000692337.1:c.16_17del (MLDHR) ENSP00000509326.1:p.Leu6MetfsTer?
ENST00000693560.1:c.-376_-375del (PTEN) ENSP00000509861.1:n.-376_-375del
ENST00000371953.7:c.-896_-895del (PTEN) ENSP00000361021.3:n.-896_-895del
ENST00000610634.1:c.-998_-997del (PTEN) ENSP00000477517.1:n.-998_-997del
NM_000314.5:c.-895_-894del (PTEN) NP_000305.3:n.-895_-894del
NM_000314.6:c.-895_-894del (PTEN) NP_000305.3:n.-895_-894del
NM_001304717.2:c.-376_-375del (PTEN) NP_001291646.2:n.-376_-375del
NM_001304718.1:c.-1600_-1599del (PTEN) NP_001291647.1:n.-1600_-1599del
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