{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA891839844", "communityStandardTitle": [ "NM_000314.8(PTEN):c.740_741delinsCT (p.Leu247Ser)" ], "genomicAlleles": [ { "chromosome": "10", "coordinates": [ { "allele": "CT", "end": 87957959, "referenceAllele": "TA", "start": 87957957 } ], "hgvs": [ "NC_000010.11:g.87957958_87957959delinsCT", "CM000672.2:g.87957958_87957959delinsCT" ], "referenceGenome": "GRCh38", "referenceSequence": "http://reg.genome.network/refseq/RS000058" }, { "chromosome": "10", "coordinates": [ { "allele": "CT", "end": 89717716, "referenceAllele": "TA", "start": 89717714 } ], "hgvs": [ "NC_000010.10:g.89717715_89717716delinsCT", "CM000672.1:g.89717715_89717716delinsCT" ], "referenceGenome": "GRCh37", "referenceSequence": "http://reg.genome.network/refseq/RS000034" }, { "chromosome": "10", "coordinates": [ { "allele": "CT", "end": 89707696, "referenceAllele": "TA", "start": 89707694 } ], "hgvs": [ "NC_000010.9:g.89707695_89707696delinsCT" ], "referenceGenome": "NCBI36", "referenceSequence": "http://reg.genome.network/refseq/RS000010" }, { "coordinates": [ { "allele": "CT", "end": 99521, "referenceAllele": "TA", "start": 99519 } ], "hgvs": [ "NG_007466.2:g.99520_99521delinsCT", "LRG_311:g.99520_99521delinsCT" ], "referenceSequence": "http://reg.genome.network/refseq/RS000591" } ], "transcriptAlleles": [ { "coordinates": [ { "allele": "CT", "end": 1586, "referenceAllele": "TA", "start": 1584 } ], "gene": "http://reg.genome.network/gene/GN009588", "geneNCBI_id": 5728, "geneSymbol": "PTEN", "hgvs": [ "ENST00000700029.2:c.740_741delinsCT" ], "proteinEffect": { "hgvs": "ENSP00000514759.2:p.Leu247Ser", "hgvsWellDefined": "ENSP00000514759.2:p.Leu247Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS914478" }, { "coordinates": [ { "allele": "CT", "end": 1586, "referenceAllele": "TA", "start": 1584 } ], "gene": "http://reg.genome.network/gene/GN009588", "geneNCBI_id": 5728, "geneSymbol": "PTEN", "hgvs": [ "ENST00000710265.1:c.740_741delinsCT" ], "proteinEffect": { "hgvs": "ENSP00000518161.1:p.Leu247Ser", "hgvsWellDefined": "ENSP00000518161.1:p.Leu247Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS914503" }, { "coordinates": [ { "allele": "CT", "end": 882, "referenceAllele": "TA", "start": 880 } ], "gene": "http://reg.genome.network/gene/GN009588", "geneNCBI_id": 5728, "geneSymbol": "PTEN", "hgvs": [ "ENST00000472832.3:c.740_741delinsCT" ], "proteinEffect": { "hgvs": "ENSP00000483066.2:p.Leu247Ser", "hgvsWellDefined": "ENSP00000483066.2:p.Leu247Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS905199" }, { "coordinates": [ { "allele": "CT", "end": 1476, "referenceAllele": "TA", "start": 1474 } ], "gene": "http://reg.genome.network/gene/GN009588", "geneNCBI_id": 5728, "geneSymbol": "PTEN", "hgvs": [ "ENST00000688158.2:n.1475_1476delinsCT" ], "referenceSequence": "http://reg.genome.network/refseq/RS906571" }, { "coordinates": [ { "allele": "CT", "end": 934, "referenceAllele": "TA", "start": 932 } ], "gene": "http://reg.genome.network/gene/GN009588", "geneNCBI_id": 5728, "geneSymbol": "PTEN", "hgvs": [ "ENST00000688922.2:c.*570_*571delinsCT" ], "proteinEffect": { "hgvs": "ENSP00000508742.2:n.*570_*571delinsCT" }, "referenceSequence": "http://reg.genome.network/refseq/RS906576" }, { "coordinates": [ { "allele": "CT", "end": 1371, "referenceAllele": "TA", "start": 1369 } ], "gene": "http://reg.genome.network/gene/GN009588", "geneNCBI_id": 5728, "geneSymbol": "PTEN", "hgvs": [ "ENST00000700021.1:c.695_696delinsCT" ], "proteinEffect": { "hgvs": "ENSP00000514757.1:p.Leu232Ser", "hgvsWellDefined": "ENSP00000514757.1:p.Leu232Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS910887" }, { "coordinates": [ { "allele": "CT", "end": 990, "referenceAllele": "TA", "start": 988 } ], "gene": "http://reg.genome.network/gene/GN009588", "geneNCBI_id": 5728, "geneSymbol": "PTEN", "hgvs": [ "ENST00000700022.1:c.*79_*80delinsCT" ], "proteinEffect": { "hgvs": "ENSP00000514758.1:n.*79_*80delinsCT" }, "referenceSequence": "http://reg.genome.network/refseq/RS910888" }, { "coordinates": [ { "allele": "CT", "end": 1899, "referenceAllele": "TA", "start": 1897 } ], "gene": "http://reg.genome.network/gene/GN009588", "geneNCBI_id": 5728, "geneSymbol": "PTEN", "hgvs": [ "ENST00000700023.1:n.1898_1899delinsCT" ], "referenceSequence": "http://reg.genome.network/refseq/RS910889" }, { "coordinates": [ { "allele": "CT", "end": 2133, "referenceAllele": "TA", "start": 2131 } ], "gene": "http://reg.genome.network/gene/GN009588", "geneNCBI_id": 5728, "geneSymbol": "PTEN", "hgvs": [ "ENST00000700024.1:n.2132_2133delinsCT" ], "referenceSequence": "http://reg.genome.network/refseq/RS910890" }, { "coordinates": [ { "allele": "CT", "end": 1510, "referenceAllele": "TA", "start": 1508 } ], "gene": "http://reg.genome.network/gene/GN009588", "geneNCBI_id": 5728, "geneSymbol": "PTEN", "hgvs": [ "ENST00000700025.1:n.1509_1510delinsCT" ], "referenceSequence": "http://reg.genome.network/refseq/RS910891" }, { "coordinates": [ { "allele": "CT", "end": 378, "referenceAllele": "TA", "start": 376 } ], "gene": "http://reg.genome.network/gene/GN009588", "geneNCBI_id": 5728, "geneSymbol": "PTEN", "hgvs": [ "ENST00000700026.1:n.377_378delinsCT" ], "referenceSequence": "http://reg.genome.network/refseq/RS910892" }, { "coordinates": [ { "allele": "CT", "end": 575, "referenceAllele": "TA", "start": 573 } ], "gene": "http://reg.genome.network/gene/GN009588", "geneNCBI_id": 5728, "geneSymbol": "PTEN", "hgvs": [ "ENST00000700029.1:c.574_575delinsCT" ], "referenceSequence": "http://reg.genome.network/refseq/RS910893" }, { "coordinates": [ { "allele": "CT", "end": 837, "referenceAllele": "TA", "start": 835 } ], "gene": "http://reg.genome.network/gene/GN009588", "geneNCBI_id": 5728, "geneSymbol": "PTEN", "hgvs": [ "ENST00000706954.1:c.740_741delinsCT" ], "proteinEffect": { "hgvs": "ENSP00000516674.1:p.Leu247Ser", "hgvsWellDefined": "ENSP00000516674.1:p.Leu247Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS913291" }, { "coordinates": [ { "allele": "CT", "end": 1756, "referenceAllele": "TA", "start": 1754 } ], "gene": "http://reg.genome.network/gene/GN009588", "geneNCBI_id": 5728, "geneSymbol": "PTEN", "hgvs": [ "ENST00000706955.1:c.*775_*776delinsCT" ], "proteinEffect": { "hgvs": "ENSP00000516675.1:n.*775_*776delinsCT" }, "referenceSequence": "http://reg.genome.network/refseq/RS913292" }, { "coordinates": [ { "allele": "CT", "end": 1042, "referenceAllele": "TA", "start": 1040 } ], "gene": "http://reg.genome.network/gene/GN009588", "geneNCBI_id": 5728, "geneSymbol": "PTEN", "hgvs": [ "ENST00000686459.1:c.*326_*327delinsCT" ], "proteinEffect": { "hgvs": "ENSP00000508909.1:n.*326_*327delinsCT" }, "referenceSequence": "http://reg.genome.network/refseq/RS830588" }, { "coordinates": [ { "allele": "CT", "end": 1832, "referenceAllele": "TA", "start": 1830 } ], "gene": "http://reg.genome.network/gene/GN009588", "geneNCBI_id": 5728, "geneSymbol": "PTEN", "hgvs": [ "ENST00000688158.1:c.*851_*852delinsCT" ], "proteinEffect": { "hgvs": "ENSP00000509254.1:n.*851_*852delinsCT" }, "referenceSequence": "http://reg.genome.network/refseq/RS831470" }, { "coordinates": [ { "allele": "CT", "end": 1233, "referenceAllele": "TA", "start": 1231 } ], "gene": "http://reg.genome.network/gene/GN009588", "geneNCBI_id": 5728, "geneSymbol": "PTEN", "hgvs": [ "ENST00000688308.1:c.740_741delinsCT" ], "proteinEffect": { "hgvs": "ENSP00000508752.1:p.Leu247Ser", "hgvsWellDefined": "ENSP00000508752.1:p.Leu247Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS831553" }, { "coordinates": [ { "allele": "CT", "end": 662, "referenceAllele": "TA", "start": 660 } ], "gene": "http://reg.genome.network/gene/GN009588", "geneNCBI_id": 5728, "geneSymbol": "PTEN", "hgvs": [ "ENST00000688922.1:c.661_662delinsCT" ], "referenceSequence": "http://reg.genome.network/refseq/RS831892" }, { "coordinates": [ { "allele": "CT", "end": 1772, "referenceAllele": "TA", "start": 1770 } ], "gene": "http://reg.genome.network/gene/GN009588", "geneNCBI_id": 5728, "geneSymbol": "PTEN", "hgvs": [ "ENST00000693560.1:c.1259_1260delinsCT" ], "proteinEffect": { "hgvs": "ENSP00000509861.1:p.Leu420Ser", "hgvsWellDefined": "ENSP00000509861.1:p.Leu420Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS834309" }, { "coordinates": [ { "allele": "CT", "end": 1586, "referenceAllele": "TA", "start": 1584 } ], "gene": "http://reg.genome.network/gene/GN009588", "geneNCBI_id": 5728, "geneSymbol": "PTEN", "hgvs": [ "ENST00000371953.8:c.740_741delinsCT" ], "proteinEffect": { "hgvs": "ENSP00000361021.3:p.Leu247Ser", "hgvsWellDefined": "ENSP00000361021.3:p.Leu247Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS750898", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000371953.8:c.740_741delinsCT" }, "RefSeq": { "hgvs": "NM_000314.8:c.740_741delinsCT" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000361021.3:p.Leu247Ser" }, "RefSeq": { "hgvs": "NP_000305.3:p.Leu247Ser" } } } }, { "coordinates": [ { "allele": "CT", "end": 2098, "referenceAllele": "TA", "start": 2096 } ], "gene": "http://reg.genome.network/gene/GN009588", "geneNCBI_id": 5728, "geneSymbol": "PTEN", "hgvs": [ "ENST00000371953.7:c.740_741delinsCT" ], "proteinEffect": { "hgvs": "ENSP00000361021.3:p.Leu247Ser", "hgvsWellDefined": "ENSP00000361021.3:p.Leu247Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS247170" }, { "coordinates": [ { "allele": "CT", "end": 168, "referenceAllele": "TA", "start": 166 } ], "gene": "http://reg.genome.network/gene/GN009588", "geneNCBI_id": 5728, "geneSymbol": "PTEN", "hgvs": [ "ENST00000472832.2:c.167_168delinsCT" ], "proteinEffect": { "hgvs": "ENSP00000483066.1:p.Leu56Ser", "hgvsWellDefined": "ENSP00000483066.1:p.Leu56Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS314717" }, { "@id": "http://reg.genome.network/allele/PA645508390", "coordinates": [ { "allele": "CT", "end": 1772, "referenceAllele": "TA", "start": 1770 } ], "gene": "http://reg.genome.network/gene/GN009588", "geneNCBI_id": 5728, "geneSymbol": "PTEN", "hgvs": [ "NM_000314.5:c.740_741delinsCT" ], "proteinEffect": { "hgvs": "NP_000305.3:p.Leu247Ser", "hgvsWellDefined": "NP_000305.3:p.Leu247Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS006376" }, { "@id": "http://reg.genome.network/allele/PA645508390", "coordinates": [ { "allele": "CT", "end": 1772, "referenceAllele": "TA", "start": 1770 } ], "gene": "http://reg.genome.network/gene/GN009588", "geneNCBI_id": 5728, "geneSymbol": "PTEN", "hgvs": [ "NM_000314.6:c.740_741delinsCT" ], "proteinEffect": { "hgvs": "NP_000305.3:p.Leu247Ser", "hgvsWellDefined": "NP_000305.3:p.Leu247Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS006377" }, { "coordinates": [ { "allele": "CT", "end": 1772, "referenceAllele": "TA", "start": 1770 } ], "gene": "http://reg.genome.network/gene/GN009588", "geneNCBI_id": 5728, "geneSymbol": "PTEN", "hgvs": [ "NM_001304717.2:c.1259_1260delinsCT" ], "proteinEffect": { "hgvs": "NP_001291646.2:p.Leu420Ser", "hgvsWellDefined": "NP_001291646.2:p.Leu420Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS025775" }, { "@id": "http://reg.genome.network/allele/PA916020142", "coordinates": [ { "allele": "CT", "end": 1886, "referenceAllele": "TA", "start": 1884 } ], "gene": "http://reg.genome.network/gene/GN009588", "geneNCBI_id": 5728, "geneSymbol": "PTEN", "hgvs": [ "NM_001304718.1:c.149_150delinsCT" ], "proteinEffect": { "hgvs": "NP_001291647.1:p.Leu50Ser", "hgvsWellDefined": "NP_001291647.1:p.Leu50Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS025776" }, { "coordinates": [ { "allele": "CT", "end": 1408, "referenceAllele": "TA", "start": 1406 } ], "gene": "http://reg.genome.network/gene/GN009588", "geneNCBI_id": 5728, "geneSymbol": "PTEN", "hgvs": [ "XM_006717926.2:c.695_696delinsCT" ], "proteinEffect": { "hgvs": "XP_006717989.1:p.Leu232Ser", "hgvsWellDefined": "XP_006717989.1:p.Leu232Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS072385" }, { "coordinates": [ { "allele": "CT", "end": 1453, "referenceAllele": "TA", "start": 1451 } ], "gene": "http://reg.genome.network/gene/GN009588", "geneNCBI_id": 5728, "geneSymbol": "PTEN", "hgvs": [ "XM_011539981.1:c.740_741delinsCT" ], "proteinEffect": { "hgvs": "XP_011538283.1:p.Leu247Ser", "hgvsWellDefined": "XP_011538283.1:p.Leu247Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS106931" }, { "coordinates": [ { "allele": "CT", "end": 4425, "referenceAllele": "TA", "start": 4423 } ], "gene": "http://reg.genome.network/gene/GN009588", "geneNCBI_id": 5728, "geneSymbol": "PTEN", "hgvs": [ "XM_011539982.1:c.644_645delinsCT" ], "proteinEffect": { "hgvs": "XP_011538284.1:p.Leu215Ser", "hgvsWellDefined": "XP_011538284.1:p.Leu215Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS106932" }, { "coordinates": [ { "allele": "CT", "end": 1311, "referenceAllele": "TA", "start": 1309 } ], "gene": "http://reg.genome.network/gene/GN009588", "geneNCBI_id": 5728, "geneSymbol": "PTEN", "hgvs": [ "XR_945791.1:n.1310_1311delinsCT" ], "referenceSequence": "http://reg.genome.network/refseq/RS139424" }, { "@id": "http://reg.genome.network/allele/PA645508390", "coordinates": [ { "allele": "CT", "end": 1585, "referenceAllele": "TA", "start": 1583 } ], "gene": "http://reg.genome.network/gene/GN009588", "geneNCBI_id": 5728, "geneSymbol": "PTEN", "hgvs": [ "NM_000314.7:c.740_741delinsCT" ], "proteinEffect": { "hgvs": "NP_000305.3:p.Leu247Ser", "hgvsWellDefined": "NP_000305.3:p.Leu247Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS662397" }, { "@id": "http://reg.genome.network/allele/PA2826896898", "coordinates": [ { "allele": "CT", "end": 1585, "referenceAllele": "TA", "start": 1583 } ], "gene": "http://reg.genome.network/gene/GN009588", "geneNCBI_id": 5728, "geneSymbol": "PTEN", "hgvs": [ "NM_001304717.5:c.1259_1260delinsCT" ], "proteinEffect": { "hgvs": "NP_001291646.4:p.Leu420Ser", "hgvsWellDefined": "NP_001291646.4:p.Leu420Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS664314" }, { "@id": "http://reg.genome.network/allele/PA916020142", "coordinates": [ { "allele": "CT", "end": 1699, "referenceAllele": "TA", "start": 1697 } ], "gene": "http://reg.genome.network/gene/GN009588", "geneNCBI_id": 5728, "geneSymbol": "PTEN", "hgvs": [ "NM_001304718.2:c.149_150delinsCT" ], "proteinEffect": { "hgvs": "NP_001291647.1:p.Leu50Ser", "hgvsWellDefined": "NP_001291647.1:p.Leu50Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS664315" }, { "@id": "http://reg.genome.network/allele/PA645508390", "coordinates": [ { "allele": "CT", "end": 1586, "referenceAllele": "TA", "start": 1584 } ], "gene": "http://reg.genome.network/gene/GN009588", "geneNCBI_id": 5728, "geneSymbol": "PTEN", "hgvs": [ "NM_000314.8:c.740_741delinsCT" ], "proteinEffect": { "hgvs": "NP_000305.3:p.Leu247Ser", "hgvsWellDefined": "NP_000305.3:p.Leu247Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS674788", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000371953.8:c.740_741delinsCT" }, "RefSeq": { "hgvs": "NM_000314.8:c.740_741delinsCT" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000361021.3:p.Leu247Ser" }, "RefSeq": { "hgvs": "NP_000305.3:p.Leu247Ser" } } } } ], "type": "nucleotide" }