{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA2038372478",
  "communityStandardTitle": [
    "NM_012064.4(MIP):c.526-2A="
  ],
  "externalRecords": {
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/1044812718",
        "rs": 1044812718
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "12",
      "coordinates": [
        {
          "allele": "T",
          "end": 56453154,
          "referenceAllele": "T",
          "start": 56453153
        }
      ],
      "hgvs": [
        "NC_000012.12:g.56453154T=",
        "CM000674.2:g.56453154T="
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000060"
    },
    {
      "chromosome": "12",
      "coordinates": [
        {
          "allele": "T",
          "end": 56846938,
          "referenceAllele": "T",
          "start": 56846937
        }
      ],
      "hgvs": [
        "NC_000012.11:g.56846938T=",
        "CM000674.1:g.56846938T="
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000036"
    },
    {
      "chromosome": "12",
      "coordinates": [
        {
          "allele": "T",
          "end": 55133205,
          "referenceAllele": "T",
          "start": 55133204
        }
      ],
      "hgvs": [
        "NC_000012.10:g.55133205T="
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000012"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 6498,
          "referenceAllele": "A",
          "start": 6497
        }
      ],
      "hgvs": [
        "NG_021397.1:g.6498A="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS003624"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 21013,
          "referenceAllele": "A",
          "start": 21012
        }
      ],
      "hgvs": [
        "NG_021397.2:g.21013A="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS706129"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 399,
          "endIntronDirection": "-",
          "endIntronOffset": 1,
          "referenceAllele": "A",
          "start": 399,
          "startIntronDirection": "-",
          "startIntronOffset": 2
        }
      ],
      "hgvs": [
        "ENST00000648304.1:c.*150-2A="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000497190.1:n.*150-2A="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS769897"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 658,
          "endIntronDirection": "-",
          "endIntronOffset": 1,
          "referenceAllele": "A",
          "start": 658,
          "startIntronDirection": "-",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007103",
      "geneNCBI_id": 4284,
      "geneSymbol": "MIP",
      "hgvs": [
        "ENST00000648442.1:n.659-2A="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS769983"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 414,
          "endIntronDirection": "-",
          "endIntronOffset": 1,
          "referenceAllele": "A",
          "start": 414,
          "startIntronDirection": "-",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007103",
      "geneNCBI_id": 4284,
      "geneSymbol": "MIP",
      "hgvs": [
        "ENST00000650166.1:n.415-2A="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS770973"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 569,
          "endIntronDirection": "-",
          "endIntronOffset": 1,
          "referenceAllele": "A",
          "start": 569,
          "startIntronDirection": "-",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007103",
      "geneNCBI_id": 4284,
      "geneSymbol": "MIP",
      "hgvs": [
        "ENST00000652304.1:c.526-2A="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000498622.1:n.526-2A="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS772135",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000652304.1:c.526-2A="
          },
          "RefSeq": {
            "hgvs": "NM_012064.4:c.526-2A="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000498622.1:n.526-2A="
          },
          "RefSeq": {
            "hgvs": "NP_036196.1:n.526-2A="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 554,
          "endIntronDirection": "-",
          "endIntronOffset": 1,
          "referenceAllele": "A",
          "start": 554,
          "startIntronDirection": "-",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007103",
      "geneNCBI_id": 4284,
      "geneSymbol": "MIP",
      "hgvs": [
        "ENST00000257979.4:c.526-2A="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000257979.4:n.526-2A="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS250331"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 481,
          "endIntronDirection": "-",
          "endIntronOffset": 1,
          "referenceAllele": "A",
          "start": 481,
          "startIntronDirection": "-",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007103",
      "geneNCBI_id": 4284,
      "geneSymbol": "MIP",
      "hgvs": [
        "ENST00000555551.1:n.482-2A="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS371525"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 563,
          "endIntronDirection": "-",
          "endIntronOffset": 1,
          "referenceAllele": "A",
          "start": 563,
          "startIntronDirection": "-",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007103",
      "geneNCBI_id": 4284,
      "geneSymbol": "MIP",
      "hgvs": [
        "NM_012064.3:c.526-2A="
      ],
      "proteinEffect": {
        "hgvs": "NP_036196.1:n.526-2A="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS032279"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 380,
          "endIntronDirection": "-",
          "endIntronOffset": 1,
          "referenceAllele": "A",
          "start": 380,
          "startIntronDirection": "-",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007103",
      "geneNCBI_id": 4284,
      "geneSymbol": "MIP",
      "hgvs": [
        "XM_011538354.1:c.241-2A="
      ],
      "proteinEffect": {
        "hgvs": "XP_011536656.1:n.241-2A="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS105311"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 569,
          "endIntronDirection": "-",
          "endIntronOffset": 1,
          "referenceAllele": "A",
          "start": 569,
          "startIntronDirection": "-",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007103",
      "geneNCBI_id": 4284,
      "geneSymbol": "MIP",
      "hgvs": [
        "NM_012064.4:c.526-2A="
      ],
      "proteinEffect": {
        "hgvs": "NP_036196.1:n.526-2A="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS525489",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000652304.1:c.526-2A="
          },
          "RefSeq": {
            "hgvs": "NM_012064.4:c.526-2A="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000498622.1:n.526-2A="
          },
          "RefSeq": {
            "hgvs": "NP_036196.1:n.526-2A="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 304,
          "endIntronDirection": "-",
          "endIntronOffset": 1,
          "referenceAllele": "A",
          "start": 304,
          "startIntronDirection": "-",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007103",
      "geneNCBI_id": 4284,
      "geneSymbol": "MIP",
      "hgvs": [
        "XM_017019306.1:c.169-2A="
      ],
      "proteinEffect": {
        "hgvs": "XP_016874795.1:n.169-2A="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS571043"
    }
  ],
  "type": "nucleotide"
}