{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA1926173607",
  "communityStandardTitle": [
    "NM_000314.8(PTEN):c.1061C= (p.Pro354=)"
  ],
  "externalRecords": {
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/375709098",
        "rs": 375709098
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "10",
      "coordinates": [
        {
          "allele": "C",
          "end": 87965321,
          "referenceAllele": "C",
          "start": 87965320
        }
      ],
      "hgvs": [
        "NC_000010.11:g.87965321C=",
        "CM000672.2:g.87965321C="
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000058"
    },
    {
      "chromosome": "10",
      "coordinates": [
        {
          "allele": "C",
          "end": 89725078,
          "referenceAllele": "C",
          "start": 89725077
        }
      ],
      "hgvs": [
        "NC_000010.10:g.89725078C=",
        "CM000672.1:g.89725078C="
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000034"
    },
    {
      "chromosome": "10",
      "coordinates": [
        {
          "allele": "C",
          "end": 89715058,
          "referenceAllele": "C",
          "start": 89715057
        }
      ],
      "hgvs": [
        "NC_000010.9:g.89715058C="
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000010"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 106883,
          "referenceAllele": "C",
          "start": 106882
        }
      ],
      "hgvs": [
        "NG_007466.2:g.106883C=",
        "LRG_311:g.106883C="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS000591"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1999,
          "referenceAllele": "C",
          "start": 1998
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009588",
      "geneNCBI_id": 5728,
      "geneSymbol": "PTEN",
      "hgvs": [
        "ENST00000700029.2:c.1154C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000514759.2:p.Pro385="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914478"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1970,
          "referenceAllele": "C",
          "start": 1969
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009588",
      "geneNCBI_id": 5728,
      "geneSymbol": "PTEN",
      "hgvs": [
        "ENST00000710265.1:c.*90C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000518161.1:n.*90C="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914503"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1796,
          "referenceAllele": "C",
          "start": 1795
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009588",
      "geneNCBI_id": 5728,
      "geneSymbol": "PTEN",
      "hgvs": [
        "ENST00000688158.2:n.1796C="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS906571"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1254,
          "referenceAllele": "C",
          "start": 1253
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009588",
      "geneNCBI_id": 5728,
      "geneSymbol": "PTEN",
      "hgvs": [
        "ENST00000688922.2:c.*891C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000508742.2:n.*891C="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS906576"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1691,
          "referenceAllele": "C",
          "start": 1690
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009588",
      "geneNCBI_id": 5728,
      "geneSymbol": "PTEN",
      "hgvs": [
        "ENST00000700021.1:c.1016C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000514757.1:p.Pro339="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS910887"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1310,
          "referenceAllele": "C",
          "start": 1309
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009588",
      "geneNCBI_id": 5728,
      "geneSymbol": "PTEN",
      "hgvs": [
        "ENST00000700022.1:c.*400C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000514758.1:n.*400C="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS910888"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2219,
          "referenceAllele": "C",
          "start": 2218
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009588",
      "geneNCBI_id": 5728,
      "geneSymbol": "PTEN",
      "hgvs": [
        "ENST00000700023.1:n.2219C="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS910889"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2453,
          "referenceAllele": "C",
          "start": 2452
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009588",
      "geneNCBI_id": 5728,
      "geneSymbol": "PTEN",
      "hgvs": [
        "ENST00000700024.1:n.2453C="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS910890"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1157,
          "referenceAllele": "C",
          "start": 1156
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009588",
      "geneNCBI_id": 5728,
      "geneSymbol": "PTEN",
      "hgvs": [
        "ENST00000706954.1:c.1061C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000516674.1:p.Pro354="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS913291"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2076,
          "referenceAllele": "C",
          "start": 2075
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009588",
      "geneNCBI_id": 5728,
      "geneSymbol": "PTEN",
      "hgvs": [
        "ENST00000706955.1:c.*1096C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000516675.1:n.*1096C="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS913292"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1362,
          "referenceAllele": "C",
          "start": 1361
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009588",
      "geneNCBI_id": 5728,
      "geneSymbol": "PTEN",
      "hgvs": [
        "ENST00000686459.1:c.*647C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000508909.1:n.*647C="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS830588"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2152,
          "referenceAllele": "C",
          "start": 2151
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009588",
      "geneNCBI_id": 5728,
      "geneSymbol": "PTEN",
      "hgvs": [
        "ENST00000688158.1:c.*1172C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000509254.1:n.*1172C="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS831470"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1553,
          "referenceAllele": "C",
          "start": 1552
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009588",
      "geneNCBI_id": 5728,
      "geneSymbol": "PTEN",
      "hgvs": [
        "ENST00000688308.1:c.1061C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000508752.1:p.Pro354="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS831553"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 982,
          "referenceAllele": "C",
          "start": 981
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009588",
      "geneNCBI_id": 5728,
      "geneSymbol": "PTEN",
      "hgvs": [
        "ENST00000688922.1:c.982C="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS831892"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2092,
          "referenceAllele": "C",
          "start": 2091
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009588",
      "geneNCBI_id": 5728,
      "geneSymbol": "PTEN",
      "hgvs": [
        "ENST00000693560.1:c.1580C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000509861.1:p.Pro527="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS834309"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1906,
          "referenceAllele": "C",
          "start": 1905
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009588",
      "geneNCBI_id": 5728,
      "geneSymbol": "PTEN",
      "hgvs": [
        "ENST00000371953.8:c.1061C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000361021.3:p.Pro354="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS750898",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000371953.8:c.1061C="
          },
          "RefSeq": {
            "hgvs": "NM_000314.8:c.1061C="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000361021.3:p.Pro354="
          },
          "RefSeq": {
            "hgvs": "NP_000305.3:p.Pro354="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2418,
          "referenceAllele": "C",
          "start": 2417
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009588",
      "geneNCBI_id": 5728,
      "geneSymbol": "PTEN",
      "hgvs": [
        "ENST00000371953.7:c.1061C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000361021.3:p.Pro354="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247170"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825118971",
      "coordinates": [
        {
          "allele": "C",
          "end": 2092,
          "referenceAllele": "C",
          "start": 2091
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009588",
      "geneNCBI_id": 5728,
      "geneSymbol": "PTEN",
      "hgvs": [
        "NM_000314.5:c.1061C="
      ],
      "proteinEffect": {
        "hgvs": "NP_000305.3:p.Pro354="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006376"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825118971",
      "coordinates": [
        {
          "allele": "C",
          "end": 2092,
          "referenceAllele": "C",
          "start": 2091
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009588",
      "geneNCBI_id": 5728,
      "geneSymbol": "PTEN",
      "hgvs": [
        "NM_000314.6:c.1061C="
      ],
      "proteinEffect": {
        "hgvs": "NP_000305.3:p.Pro354="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006377"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3057236240",
      "coordinates": [
        {
          "allele": "C",
          "end": 2092,
          "referenceAllele": "C",
          "start": 2091
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009588",
      "geneNCBI_id": 5728,
      "geneSymbol": "PTEN",
      "hgvs": [
        "NM_001304717.2:c.1580C="
      ],
      "proteinEffect": {
        "hgvs": "NP_001291646.2:p.Pro527="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS025775"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826897462",
      "coordinates": [
        {
          "allele": "C",
          "end": 2206,
          "referenceAllele": "C",
          "start": 2205
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009588",
      "geneNCBI_id": 5728,
      "geneSymbol": "PTEN",
      "hgvs": [
        "NM_001304718.1:c.470C="
      ],
      "proteinEffect": {
        "hgvs": "NP_001291647.1:p.Pro157="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS025776"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1728,
          "referenceAllele": "C",
          "start": 1727
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009588",
      "geneNCBI_id": 5728,
      "geneSymbol": "PTEN",
      "hgvs": [
        "XM_006717926.2:c.1016C="
      ],
      "proteinEffect": {
        "hgvs": "XP_006717989.1:p.Pro339="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS072385"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 4745,
          "referenceAllele": "C",
          "start": 4744
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009588",
      "geneNCBI_id": 5728,
      "geneSymbol": "PTEN",
      "hgvs": [
        "XM_011539982.1:c.965C="
      ],
      "proteinEffect": {
        "hgvs": "XP_011538284.1:p.Pro322="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS106932"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1631,
          "referenceAllele": "C",
          "start": 1630
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009588",
      "geneNCBI_id": 5728,
      "geneSymbol": "PTEN",
      "hgvs": [
        "XR_945791.1:n.1631C="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS139424"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825118971",
      "coordinates": [
        {
          "allele": "C",
          "end": 1905,
          "referenceAllele": "C",
          "start": 1904
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009588",
      "geneNCBI_id": 5728,
      "geneSymbol": "PTEN",
      "hgvs": [
        "NM_000314.7:c.1061C="
      ],
      "proteinEffect": {
        "hgvs": "NP_000305.3:p.Pro354="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS662397"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826897089",
      "coordinates": [
        {
          "allele": "C",
          "end": 1905,
          "referenceAllele": "C",
          "start": 1904
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009588",
      "geneNCBI_id": 5728,
      "geneSymbol": "PTEN",
      "hgvs": [
        "NM_001304717.5:c.1580C="
      ],
      "proteinEffect": {
        "hgvs": "NP_001291646.4:p.Pro527="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS664314"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826897462",
      "coordinates": [
        {
          "allele": "C",
          "end": 2019,
          "referenceAllele": "C",
          "start": 2018
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009588",
      "geneNCBI_id": 5728,
      "geneSymbol": "PTEN",
      "hgvs": [
        "NM_001304718.2:c.470C="
      ],
      "proteinEffect": {
        "hgvs": "NP_001291647.1:p.Pro157="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS664315"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825118971",
      "coordinates": [
        {
          "allele": "C",
          "end": 1906,
          "referenceAllele": "C",
          "start": 1905
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009588",
      "geneNCBI_id": 5728,
      "geneSymbol": "PTEN",
      "hgvs": [
        "NM_000314.8:c.1061C="
      ],
      "proteinEffect": {
        "hgvs": "NP_000305.3:p.Pro354="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS674788",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000371953.8:c.1061C="
          },
          "RefSeq": {
            "hgvs": "NM_000314.8:c.1061C="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000361021.3:p.Pro354="
          },
          "RefSeq": {
            "hgvs": "NP_000305.3:p.Pro354="
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}