Canonical Allele Identifier: CA595073186
Gene: PTEN HGNC NCBI
MLDHR HGNC NCBI

Linked Data

dbSNP Id: rs1564800244
gnomAD v2: 10-89623322-C-CA
gnomAD v3: 10-87863565-C-CA
gnomAD v4: 10-87863565-C-CA
MyVariant Identifiers: chr10:g.89623322_89623323insA (hg19) chr10:g.87863565_87863566insA (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.87863565_87863566insA , CM000672.2:g.87863565_87863566insA GRCh38
NC_000010.10:g.89623322_89623323insA , CM000672.1:g.89623322_89623323insA GRCh37
NC_000010.9:g.89613302_89613303insA NCBI36
NG_007466.2:g.5128_5129insA , LRG_311:g.5128_5129insA
NG_033079.1:g.4872_4873insT

Transcript Alleles

HGVS Amino-acid Change
ENST00000706954.1:c.-16-889_-16-888insA (PTEN) ENSP00000516674.1:n.-16-889_-16-888insA
ENST00000688308.1:c.-17+452_-17+453insA (PTEN) ENSP00000508752.1:n.-17+452_-17+453insA
ENST00000692337.1:c.7_8insA (MLDHR) ENSP00000509326.1:p.Arg3GlnfsTer?
ENST00000693560.1:c.-385_-384insA (PTEN) ENSP00000509861.1:n.-385_-384insA
ENST00000371953.7:c.-905_-904insA (PTEN) ENSP00000361021.3:n.-905_-904insA
ENST00000610634.1:c.-1007_-1006insA (PTEN) ENSP00000477517.1:n.-1007_-1006insA
NM_000314.5:c.-904_-903insA (PTEN) NP_000305.3:n.-904_-903insA
NM_000314.6:c.-904_-903insA (PTEN) NP_000305.3:n.-904_-903insA
NM_001304717.2:c.-385_-384insA (PTEN) NP_001291646.2:n.-385_-384insA
NM_001304718.1:c.-1609_-1608insA (PTEN) NP_001291647.1:n.-1609_-1608insA
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