Canonical Allele Identifier: CA669540625
Gene: PTEN HGNC NCBI
MLDHR HGNC NCBI

Linked Data

ClinVar Variation Id: 619909
ClinVar RCV Id: RCV000760053 RCV002370017
dbSNP Id: rs1348857174
gnomAD v3: 10-87863566-G-GGGACTCTTTATGCGCTGCGGCA
gnomAD v4: 10-87863566-G-GGGACTCTTTATGCGCTGCGGCA
MyVariant Identifiers: chr10:g.89623323_89623324insGGACTCTTTATGCGCTGCGGCA (hg19) chr10:g.87863566_87863567insGGACTCTTTATGCGCTGCGGCA (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.87863570_87863591dup , CM000672.2:g.87863570_87863591dup GRCh38
NC_000010.10:g.89623327_89623348dup , CM000672.1:g.89623327_89623348dup GRCh37
NC_000010.9:g.89613307_89613328dup NCBI36
NG_007466.2:g.5133_5154dup , LRG_311:g.5133_5154dup
NG_033079.1:g.4850_4871dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000706954.1:c.-16-884_-16-863dup (PTEN) ENSP00000516674.1:n.-16-884_-16-863dup
ENST00000688308.1:c.-17+457_-17+478dup (PTEN) ENSP00000508752.1:n.-17+457_-17+478dup
ENST00000692337.1:c.12_33dup (MLDHR) ENSP00000509326.1:p.Tyr12LeufsTer?
ENST00000693560.1:c.-380_-359dup (PTEN) ENSP00000509861.1:n.-380_-359dup
ENST00000371953.7:c.-900_-879dup (PTEN) ENSP00000361021.3:n.-900_-879dup
ENST00000610634.1:c.-1002_-981dup (PTEN) ENSP00000477517.1:n.-1002_-981dup
NM_000314.5:c.-899_-878dup (PTEN) NP_000305.3:n.-899_-878dup
NM_000314.6:c.-899_-878dup (PTEN) NP_000305.3:n.-899_-878dup
NM_001304717.2:c.-380_-359dup (PTEN) NP_001291646.2:n.-380_-359dup
NM_001304718.1:c.-1604_-1583dup (PTEN) NP_001291647.1:n.-1604_-1583dup
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