Canonical Allele Identifier: CA2580082204
Gene: PTEN HGNC NCBI
MLDHR HGNC NCBI

Linked Data

ClinVar Variation Id: 1765658
ClinVar RCV Id: RCV002378545
gnomAD v4: 10-87863562-TG-T
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Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.87863564del , CM000672.2:g.87863564del GRCh38
NC_000010.10:g.89623321del , CM000672.1:g.89623321del GRCh37
NC_000010.9:g.89613301del NCBI36
NG_007466.2:g.5127del , LRG_311:g.5127del
NG_033079.1:g.4875del

Transcript Alleles

HGVS Amino-acid Change
ENST00000706954.1:c.-16-890del (PTEN) ENSP00000516674.1:n.-16-890del
ENST00000688308.1:c.-17+451del (PTEN) ENSP00000508752.1:n.-17+451del
ENST00000692337.1:c.6del (MLDHR) ENSP00000509326.1:p.Trp2CysfsTer?
ENST00000693560.1:c.-386del (PTEN) ENSP00000509861.1:n.-386del
ENST00000371953.7:c.-906del (PTEN) ENSP00000361021.3:n.-906del
ENST00000610634.1:c.-1008del (PTEN) ENSP00000477517.1:n.-1008del
NM_000314.5:c.-905del (PTEN) NP_000305.3:n.-905del
NM_000314.6:c.-905del (PTEN) NP_000305.3:n.-905del
NM_001304717.2:c.-386del (PTEN) NP_001291646.2:n.-386del
NM_001304718.1:c.-1610del (PTEN) NP_001291647.1:n.-1610del
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