{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA1884225530",
  "communityStandardTitle": [
    "NM_019892.6(INPP5E):c.1361A= (p.Asp454=)"
  ],
  "externalRecords": {
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/1057517749",
        "rs": 1057517749
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "9",
      "coordinates": [
        {
          "allele": "T",
          "end": 136432505,
          "referenceAllele": "T",
          "start": 136432504
        }
      ],
      "hgvs": [
        "NC_000009.12:g.136432505T=",
        "CM000671.2:g.136432505T="
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000057"
    },
    {
      "chromosome": "9",
      "coordinates": [
        {
          "allele": "T",
          "end": 139326957,
          "referenceAllele": "T",
          "start": 139326956
        }
      ],
      "hgvs": [
        "NC_000009.11:g.139326957T=",
        "CM000671.1:g.139326957T="
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000033"
    },
    {
      "chromosome": "9",
      "coordinates": [
        {
          "allele": "T",
          "end": 138446778,
          "referenceAllele": "T",
          "start": 138446777
        }
      ],
      "hgvs": [
        "NC_000009.10:g.138446778T="
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000009"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 12300,
          "referenceAllele": "A",
          "start": 12299
        }
      ],
      "hgvs": [
        "NG_016126.1:g.12300A="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS002966"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1787,
          "referenceAllele": "A",
          "start": 1786
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021474",
      "geneNCBI_id": 56623,
      "geneSymbol": "INPP5E",
      "hgvs": [
        "ENST00000371712.4:c.1361A="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000360777.3:p.Asp454="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS750845",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000371712.4:c.1361A="
          },
          "RefSeq": {
            "hgvs": "NM_019892.6:c.1361A="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000360777.3:p.Asp454="
          },
          "RefSeq": {
            "hgvs": "NP_063945.2:p.Asp454="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1685,
          "referenceAllele": "A",
          "start": 1684
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021474",
      "geneNCBI_id": 56623,
      "geneSymbol": "INPP5E",
      "hgvs": [
        "ENST00000676019.1:c.1259A="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000501984.1:p.Asp420="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS775760"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1764,
          "referenceAllele": "A",
          "start": 1763
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021474",
      "geneNCBI_id": 56623,
      "geneSymbol": "INPP5E",
      "hgvs": [
        "ENST00000371712.3:c.1361A="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000360777.3:p.Asp454="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS268711"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3075626671",
      "coordinates": [
        {
          "allele": "A",
          "end": 1746,
          "referenceAllele": "A",
          "start": 1745
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021474",
      "geneNCBI_id": 56623,
      "geneSymbol": "INPP5E",
      "hgvs": [
        "NM_019892.4:c.1361A="
      ],
      "proteinEffect": {
        "hgvs": "NP_063945.2:p.Asp454="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS036167"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1798,
          "referenceAllele": "A",
          "start": 1797
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021474",
      "geneNCBI_id": 56623,
      "geneSymbol": "INPP5E",
      "hgvs": [
        "XM_005266094.2:c.1358A="
      ],
      "proteinEffect": {
        "hgvs": "XP_005266151.1:p.Asp453="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS064913"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1801,
          "referenceAllele": "A",
          "start": 1800
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021474",
      "geneNCBI_id": 56623,
      "geneSymbol": "INPP5E",
      "hgvs": [
        "XR_929828.1:n.1801A="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS125957"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1761,
          "referenceAllele": "A",
          "start": 1760
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021474",
      "geneNCBI_id": 56623,
      "geneSymbol": "INPP5E",
      "hgvs": [
        "NM_001318502.1:c.1358A="
      ],
      "proteinEffect": {
        "hgvs": "NP_001305431.1:p.Asp453="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS512916"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3075626671",
      "coordinates": [
        {
          "allele": "A",
          "end": 1764,
          "referenceAllele": "A",
          "start": 1763
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021474",
      "geneNCBI_id": 56623,
      "geneSymbol": "INPP5E",
      "hgvs": [
        "NM_019892.5:c.1361A="
      ],
      "proteinEffect": {
        "hgvs": "NP_063945.2:p.Asp454="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS525948"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1803,
          "referenceAllele": "A",
          "start": 1802
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021474",
      "geneNCBI_id": 56623,
      "geneSymbol": "INPP5E",
      "hgvs": [
        "XM_017014926.1:c.1361A="
      ],
      "proteinEffect": {
        "hgvs": "XP_016870415.1:p.Asp454="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS567771"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1803,
          "referenceAllele": "A",
          "start": 1802
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021474",
      "geneNCBI_id": 56623,
      "geneSymbol": "INPP5E",
      "hgvs": [
        "XR_929828.2:n.1803A="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS609305"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3075626671",
      "coordinates": [
        {
          "allele": "A",
          "end": 1787,
          "referenceAllele": "A",
          "start": 1786
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021474",
      "geneNCBI_id": 56623,
      "geneSymbol": "INPP5E",
      "hgvs": [
        "NM_019892.6:c.1361A="
      ],
      "proteinEffect": {
        "hgvs": "NP_063945.2:p.Asp454="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS669878",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000371712.4:c.1361A="
          },
          "RefSeq": {
            "hgvs": "NM_019892.6:c.1361A="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000360777.3:p.Asp454="
          },
          "RefSeq": {
            "hgvs": "NP_063945.2:p.Asp454="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1784,
          "referenceAllele": "A",
          "start": 1783
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021474",
      "geneNCBI_id": 56623,
      "geneSymbol": "INPP5E",
      "hgvs": [
        "NM_001318502.2:c.1358A="
      ],
      "proteinEffect": {
        "hgvs": "NP_001305431.1:p.Asp453="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS684545"
    }
  ],
  "type": "nucleotide"
}