Canonical Allele Identifier: CA2580082214
Gene: PTEN HGNC NCBI
MLDHR HGNC NCBI

Linked Data

ClinVar Variation Id: 1764108
ClinVar RCV Id: RCV002371177
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Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.87863607_87863622del , CM000672.2:g.87863607_87863622del GRCh38
NC_000010.10:g.89623364_89623379del , CM000672.1:g.89623364_89623379del GRCh37
NC_000010.9:g.89613344_89613359del NCBI36
NG_007466.2:g.5170_5185del , LRG_311:g.5170_5185del
NG_033079.1:g.4821_4836del

Transcript Alleles

HGVS Amino-acid Change
ENST00000706954.1:c.-16-847_-16-832del (PTEN) ENSP00000516674.1:n.-16-847_-16-832del
ENST00000688308.1:c.-17+494_-17+509del (PTEN) ENSP00000508752.1:n.-17+494_-17+509del
ENST00000692337.1:c.49_64del (MLDHR) ENSP00000509326.1:p.Gly17GlnfsTer?
ENST00000693560.1:c.-343_-328del (PTEN) ENSP00000509861.1:n.-343_-328del
ENST00000371953.7:c.-863_-848del (PTEN) ENSP00000361021.3:n.-863_-848del
ENST00000610634.1:c.-965_-950del (PTEN) ENSP00000477517.1:n.-965_-950del
NM_000314.5:c.-862_-847del (PTEN) NP_000305.3:n.-862_-847del
NM_000314.6:c.-862_-847del (PTEN) NP_000305.3:n.-862_-847del
NM_001304717.2:c.-343_-328del (PTEN) NP_001291646.2:n.-343_-328del
NM_001304718.1:c.-1567_-1552del (PTEN) NP_001291647.1:n.-1567_-1552del
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