{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA2404495373",
  "communityStandardTitle": [
    "NM_001039141.3(TRIOBP):c.5488-2A="
  ],
  "externalRecords": {
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/776720591",
        "rs": 776720591
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "22",
      "coordinates": [
        {
          "allele": "A",
          "end": 37755099,
          "referenceAllele": "A",
          "start": 37755098
        }
      ],
      "hgvs": [
        "NC_000022.11:g.37755099A=",
        "CM000684.2:g.37755099A="
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000070"
    },
    {
      "chromosome": "22",
      "coordinates": [
        {
          "allele": "A",
          "end": 38151106,
          "referenceAllele": "A",
          "start": 38151105
        }
      ],
      "hgvs": [
        "NC_000022.10:g.38151106A=",
        "CM000684.1:g.38151106A="
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000046"
    },
    {
      "chromosome": "22",
      "coordinates": [
        {
          "allele": "A",
          "end": 36481052,
          "referenceAllele": "A",
          "start": 36481051
        }
      ],
      "hgvs": [
        "NC_000022.9:g.36481052A="
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000022"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 63112,
          "referenceAllele": "A",
          "start": 63111
        }
      ],
      "hgvs": [
        "NG_012857.1:g.63112A="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS002588"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 348,
          "endIntronDirection": "-",
          "endIntronOffset": 1,
          "referenceAllele": "A",
          "start": 348,
          "startIntronDirection": "-",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017009",
      "geneNCBI_id": 11078,
      "geneSymbol": "TRIOBP",
      "hgvs": [
        "ENST00000407319.7:c.349-2A="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000383913.2:n.349-2A="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS754191"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 5698,
          "endIntronDirection": "-",
          "endIntronOffset": 1,
          "referenceAllele": "A",
          "start": 5698,
          "startIntronDirection": "-",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017009",
      "geneNCBI_id": 11078,
      "geneSymbol": "TRIOBP",
      "hgvs": [
        "ENST00000644935.1:c.5488-2A="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000496394.1:n.5488-2A="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS768083",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000644935.1:c.5488-2A="
          },
          "RefSeq": {
            "hgvs": "NM_001039141.3:c.5488-2A="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000496394.1:n.5488-2A="
          },
          "RefSeq": {
            "hgvs": "NP_001034230.1:n.5488-2A="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 103,
          "endIntronDirection": "-",
          "endIntronOffset": 1,
          "referenceAllele": "A",
          "start": 103,
          "startIntronDirection": "-",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017009",
      "geneNCBI_id": 11078,
      "geneSymbol": "TRIOBP",
      "hgvs": [
        "ENST00000331103.5:n.104-2A="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS259346"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 5421,
          "endIntronDirection": "-",
          "endIntronOffset": 1,
          "referenceAllele": "A",
          "start": 5421,
          "startIntronDirection": "-",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017009",
      "geneNCBI_id": 11078,
      "geneSymbol": "TRIOBP",
      "hgvs": [
        "ENST00000344404.10:c.*4971-2A="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000340312.6:n.*4971-2A="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS261965"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 353,
          "endIntronDirection": "-",
          "endIntronOffset": 1,
          "referenceAllele": "A",
          "start": 353,
          "startIntronDirection": "-",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017009",
      "geneNCBI_id": 11078,
      "geneSymbol": "TRIOBP",
      "hgvs": [
        "ENST00000403663.6:c.349-2A="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000386026.2:n.349-2A="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS279866"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 5742,
          "endIntronDirection": "-",
          "endIntronOffset": 1,
          "referenceAllele": "A",
          "start": 5742,
          "startIntronDirection": "-",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017009",
      "geneNCBI_id": 11078,
      "geneSymbol": "TRIOBP",
      "hgvs": [
        "ENST00000406386.7:c.5488-2A="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000384312.3:n.5488-2A="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS280618"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 358,
          "endIntronDirection": "-",
          "endIntronOffset": 1,
          "referenceAllele": "A",
          "start": 358,
          "startIntronDirection": "-",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017009",
      "geneNCBI_id": 11078,
      "geneSymbol": "TRIOBP",
      "hgvs": [
        "ENST00000407319.6:c.349-2A="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000383913.2:n.349-2A="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS280888"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 353,
          "endIntronDirection": "-",
          "endIntronOffset": 1,
          "referenceAllele": "A",
          "start": 353,
          "startIntronDirection": "-",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017009",
      "geneNCBI_id": 11078,
      "geneSymbol": "TRIOBP",
      "hgvs": [
        "ENST00000413051.2:c.354-2A="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000400680.2:n.354-2A="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS282884"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 284,
          "endIntronDirection": "-",
          "endIntronOffset": 1,
          "referenceAllele": "A",
          "start": 284,
          "startIntronDirection": "-",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017009",
      "geneNCBI_id": 11078,
      "geneSymbol": "TRIOBP",
      "hgvs": [
        "ENST00000417857.1:c.136-2A="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000387881.1:n.136-2A="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS285119"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 369,
          "endIntronDirection": "-",
          "endIntronOffset": 1,
          "referenceAllele": "A",
          "start": 369,
          "startIntronDirection": "-",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017009",
      "geneNCBI_id": 11078,
      "geneSymbol": "TRIOBP",
      "hgvs": [
        "ENST00000418339.5:c.226-2A="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000396946.1:n.226-2A="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS285358"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 208,
          "endIntronDirection": "-",
          "endIntronOffset": 1,
          "referenceAllele": "A",
          "start": 208,
          "startIntronDirection": "-",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017009",
      "geneNCBI_id": 11078,
      "geneSymbol": "TRIOBP",
      "hgvs": [
        "ENST00000428075.5:c.209-2A="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS290022"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 471,
          "endIntronDirection": "-",
          "endIntronOffset": 1,
          "referenceAllele": "A",
          "start": 471,
          "startIntronDirection": "-",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017009",
      "geneNCBI_id": 11078,
      "geneSymbol": "TRIOBP",
      "hgvs": [
        "ENST00000452519.5:c.136-2A="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000407542.1:n.136-2A="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS301662"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 5758,
          "endIntronDirection": "-",
          "endIntronOffset": 1,
          "referenceAllele": "A",
          "start": 5758,
          "startIntronDirection": "-",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017009",
      "geneNCBI_id": 11078,
      "geneSymbol": "TRIOBP",
      "hgvs": [
        "NM_001039141.2:c.5488-2A="
      ],
      "proteinEffect": {
        "hgvs": "NP_001034230.1:n.5488-2A="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS009337"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 352,
          "endIntronDirection": "-",
          "endIntronOffset": 1,
          "referenceAllele": "A",
          "start": 352,
          "startIntronDirection": "-",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017009",
      "geneNCBI_id": 11078,
      "geneSymbol": "TRIOBP",
      "hgvs": [
        "NM_007032.5:c.349-2A="
      ],
      "proteinEffect": {
        "hgvs": "NP_008963.3:n.349-2A="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS031988"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 352,
          "endIntronDirection": "-",
          "endIntronOffset": 1,
          "referenceAllele": "A",
          "start": 352,
          "startIntronDirection": "-",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017009",
      "geneNCBI_id": 11078,
      "geneSymbol": "TRIOBP",
      "hgvs": [
        "NM_138632.2:c.349-2A="
      ],
      "proteinEffect": {
        "hgvs": "NP_619538.2:n.349-2A="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS040810"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 5698,
          "endIntronDirection": "-",
          "endIntronOffset": 1,
          "referenceAllele": "A",
          "start": 5698,
          "startIntronDirection": "-",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017009",
      "geneNCBI_id": 11078,
      "geneSymbol": "TRIOBP",
      "hgvs": [
        "NM_001039141.3:c.5488-2A="
      ],
      "proteinEffect": {
        "hgvs": "NP_001034230.1:n.5488-2A="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS663106",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000644935.1:c.5488-2A="
          },
          "RefSeq": {
            "hgvs": "NM_001039141.3:c.5488-2A="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000496394.1:n.5488-2A="
          },
          "RefSeq": {
            "hgvs": "NP_001034230.1:n.5488-2A="
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}