{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA919823806",
  "communityStandardTitle": [
    "NM_001045.6(SLC6A4):c.343+47_343+48insGGTGGGCTGGGTGGGCTGGGTGGGCTGGGTGGGCTGGGTGGGCTGGGTGGGCTGGGTGGGCTGGGTGGGCTGGGTGGGCTGGGTGGGCTGGGTGGGCTGGTGGGCTG"
  ],
  "externalRecords": {
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/57098334",
        "rs": 57098334
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "17",
      "coordinates": [
        {
          "allele": "AGCCCACCCAGCCCACCCAGCCCACCCAGCCCACCCAGCCCACCCAGCCCACCCAGCCCACCCAGCCCACCCAGCCCACCCAGCCCACCCAGCCCACCCAGCCCACC",
          "end": 30221577,
          "referenceAllele": "",
          "start": 30221577
        }
      ],
      "hgvs": [
        "NC_000017.11:g.30221577_30221578insAGCCCACCCAGCCCACCCAGCCCACCCAGCCCACCCAGCCCACCCAGCCCACCCAGCCCACCCAGCCCACCCAGCCCACCCAGCCCACCCAGCCCACCCAGCCCACC",
        "CM000679.2:g.30221577_30221578insAGCCCACCCAGCCCACCCAGCCCACCCAGCCCACCCAGCCCACCCAGCCCACCCAGCCCACCCAGCCCACCCAGCCCACCCAGCCCACCCAGCCCACCCAGCCCACC"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000065"
    },
    {
      "chromosome": "17",
      "coordinates": [
        {
          "allele": "AGCCCACCCAGCCCACCCAGCCCACCCAGCCCACCCAGCCCACCCAGCCCACCCAGCCCACCCAGCCCACCCAGCCCACCCAGCCCACCCAGCCCACCCAGCCCACC",
          "end": 28548595,
          "referenceAllele": "",
          "start": 28548595
        }
      ],
      "hgvs": [
        "NC_000017.10:g.28548595_28548596insAGCCCACCCAGCCCACCCAGCCCACCCAGCCCACCCAGCCCACCCAGCCCACCCAGCCCACCCAGCCCACCCAGCCCACCCAGCCCACCCAGCCCACCCAGCCCACC",
        "CM000679.1:g.28548595_28548596insAGCCCACCCAGCCCACCCAGCCCACCCAGCCCACCCAGCCCACCCAGCCCACCCAGCCCACCCAGCCCACCCAGCCCACCCAGCCCACCCAGCCCACCCAGCCCACC"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000041"
    },
    {
      "chromosome": "17",
      "coordinates": [
        {
          "allele": "AGCCCACCCAGCCCACCCAGCCCACCCAGCCCACCCAGCCCACCCAGCCCACCCAGCCCACCCAGCCCACCCAGCCCACCCAGCCCACCCAGCCCACCCAGCCCACC",
          "end": 25572721,
          "referenceAllele": "",
          "start": 25572721
        }
      ],
      "hgvs": [
        "NC_000017.9:g.25572721_25572722insAGCCCACCCAGCCCACCCAGCCCACCCAGCCCACCCAGCCCACCCAGCCCACCCAGCCCACCCAGCCCACCCAGCCCACCCAGCCCACCCAGCCCACCCAGCCCACC"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000017"
    },
    {
      "coordinates": [
        {
          "allele": "GGTGGGCTGGGTGGGCTGGGTGGGCTGGGTGGGCTGGGTGGGCTGGGTGGGCTGGGTGGGCTGGGTGGGCTGGGTGGGCTGGGTGGGCTGGGTGGGCTGGTGGGCTG",
          "end": 19368,
          "referenceAllele": "",
          "start": 19368
        }
      ],
      "hgvs": [
        "NG_011747.2:g.19368_19369insGGTGGGCTGGGTGGGCTGGGTGGGCTGGGTGGGCTGGGTGGGCTGGGTGGGCTGGGTGGGCTGGGTGGGCTGGGTGGGCTGGGTGGGCTGGGTGGGCTGGTGGGCTG"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001945"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "GGTGGGCTGGGTGGGCTGGGTGGGCTGGGTGGGCTGGGTGGGCTGGGTGGGCTGGGTGGGCTGGGTGGGCTGGGTGGGCTGGGTGGGCTGGGTGGGCTGGTGGGCTG",
          "end": 648,
          "endIntronDirection": "+",
          "endIntronOffset": 47,
          "referenceAllele": "",
          "start": 648,
          "startIntronDirection": "+",
          "startIntronOffset": 47
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011050",
      "geneNCBI_id": 6532,
      "geneSymbol": "SLC6A4",
      "hgvs": [
        "ENST00000650711.1:c.343+47_343+48insGGTGGGCTGGGTGGGCTGGGTGGGCTGGGTGGGCTGGGTGGGCTGGGTGGGCTGGGTGGGCTGGGTGGGCTGGGTGGGCTGGGTGGGCTGGGTGGGCTGGTGGGCTG"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000498537.1:n.343+47_343+48insGGTGGGCTGGGTGGGCTGGGTGGGCTGGGTGGGCTGGGTGGGCTGGGTGGGCTGGGTGGGCTGGGTGGGCTGGGTGGGCTGGGTGGGCTGGGTGGGCTGGTGGGCTG"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS771266",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000650711.1:c.343+47_343+48insGGTGGGCTGGGTGGGCTGGGTGGGCTGGGTGGGCTGGGTGGGCTGGGTGGGCTGGGTGGGCTGGGTGGGCTGGGTGGGCTGGGTGGGCTGGGTGGGCTGGTGGGCTG"
          },
          "RefSeq": {
            "hgvs": "NM_001045.6:c.343+47_343+48insGGTGGGCTGGGTGGGCTGGGTGGGCTGGGTGGGCTGGGTGGGCTGGGTGGGCTGGGTGGGCTGGGTGGGCTGGGTGGGCTGGGTGGGCTGGGTGGGCTGGTGGGCTG"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000498537.1:n.343+47_343+48insGGTGGGCTGGGTGGGCTGGGTGGGCTGGGTGGGCTGGGTGGGCTGGGTGGGCTGGGTGGGCTGGGTGGGCTGGGTGGGCTGGGTGGGCTGGGTGGGCTGGTGGGCTG"
          },
          "RefSeq": {
            "hgvs": "NP_001036.1:n.343+47_343+48insGGTGGGCTGGGTGGGCTGGGTGGGCTGGGTGGGCTGGGTGGGCTGGGTGGGCTGGGTGGGCTGGGTGGGCTGGGTGGGCTGGGTGGGCTGGGTGGGCTGGTGGGCTG"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "GGTGGGCTGGGTGGGCTGGGTGGGCTGGGTGGGCTGGGTGGGCTGGGTGGGCTGGGTGGGCTGGGTGGGCTGGGTGGGCTGGGTGGGCTGGGTGGGCTGGTGGGCTG",
          "end": 919,
          "endIntronDirection": "+",
          "endIntronOffset": 47,
          "referenceAllele": "",
          "start": 919,
          "startIntronDirection": "+",
          "startIntronOffset": 47
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011050",
      "geneNCBI_id": 6532,
      "geneSymbol": "SLC6A4",
      "hgvs": [
        "ENST00000261707.7:c.343+47_343+48insGGTGGGCTGGGTGGGCTGGGTGGGCTGGGTGGGCTGGGTGGGCTGGGTGGGCTGGGTGGGCTGGGTGGGCTGGGTGGGCTGGGTGGGCTGGGTGGGCTGGTGGGCTG"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000261707.3:n.343+47_343+48insGGTGGGCTGGGTGGGCTGGGTGGGCTGGGTGGGCTGGGTGGGCTGGGTGGGCTGGGTGGGCTGGGTGGGCTGGGTGGGCTGGGTGGGCTGGGTGGGCTGGTGGGCTG"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS250818"
    },
    {
      "coordinates": [
        {
          "allele": "GGTGGGCTGGGTGGGCTGGGTGGGCTGGGTGGGCTGGGTGGGCTGGGTGGGCTGGGTGGGCTGGGTGGGCTGGGTGGGCTGGGTGGGCTGGGTGGGCTGGTGGGCTG",
          "end": 649,
          "endIntronDirection": "+",
          "endIntronOffset": 47,
          "referenceAllele": "",
          "start": 649,
          "startIntronDirection": "+",
          "startIntronOffset": 47
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011050",
      "geneNCBI_id": 6532,
      "geneSymbol": "SLC6A4",
      "hgvs": [
        "ENST00000394821.2:c.343+47_343+48insGGTGGGCTGGGTGGGCTGGGTGGGCTGGGTGGGCTGGGTGGGCTGGGTGGGCTGGGTGGGCTGGGTGGGCTGGGTGGGCTGGGTGGGCTGGGTGGGCTGGTGGGCTG"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000378298.2:n.343+47_343+48insGGTGGGCTGGGTGGGCTGGGTGGGCTGGGTGGGCTGGGTGGGCTGGGTGGGCTGGGTGGGCTGGGTGGGCTGGGTGGGCTGGGTGGGCTGGGTGGGCTGGTGGGCTG"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS276361"
    },
    {
      "coordinates": [
        {
          "allele": "GGTGGGCTGGGTGGGCTGGGTGGGCTGGGTGGGCTGGGTGGGCTGGGTGGGCTGGGTGGGCTGGGTGGGCTGGGTGGGCTGGGTGGGCTGGGTGGGCTGGTGGGCTG",
          "end": 856,
          "endIntronDirection": "+",
          "endIntronOffset": 47,
          "referenceAllele": "",
          "start": 856,
          "startIntronDirection": "+",
          "startIntronOffset": 47
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011050",
      "geneNCBI_id": 6532,
      "geneSymbol": "SLC6A4",
      "hgvs": [
        "ENST00000401766.6:c.343+47_343+48insGGTGGGCTGGGTGGGCTGGGTGGGCTGGGTGGGCTGGGTGGGCTGGGTGGGCTGGGTGGGCTGGGTGGGCTGGGTGGGCTGGGTGGGCTGGGTGGGCTGGTGGGCTG"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000385822.2:n.343+47_343+48insGGTGGGCTGGGTGGGCTGGGTGGGCTGGGTGGGCTGGGTGGGCTGGGTGGGCTGGGTGGGCTGGGTGGGCTGGGTGGGCTGGGTGGGCTGGGTGGGCTGGTGGGCTG"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS279321"
    },
    {
      "coordinates": [
        {
          "allele": "GGTGGGCTGGGTGGGCTGGGTGGGCTGGGTGGGCTGGGTGGGCTGGGTGGGCTGGGTGGGCTGGGTGGGCTGGGTGGGCTGGGTGGGCTGGGTGGGCTGGTGGGCTG",
          "end": 919,
          "endIntronDirection": "+",
          "endIntronOffset": 47,
          "referenceAllele": "",
          "start": 919,
          "startIntronDirection": "+",
          "startIntronOffset": 47
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011050",
      "geneNCBI_id": 6532,
      "geneSymbol": "SLC6A4",
      "hgvs": [
        "NM_001045.5:c.343+47_343+48insGGTGGGCTGGGTGGGCTGGGTGGGCTGGGTGGGCTGGGTGGGCTGGGTGGGCTGGGTGGGCTGGGTGGGCTGGGTGGGCTGGGTGGGCTGGGTGGGCTGGTGGGCTG"
      ],
      "proteinEffect": {
        "hgvs": "NP_001036.1:n.343+47_343+48insGGTGGGCTGGGTGGGCTGGGTGGGCTGGGTGGGCTGGGTGGGCTGGGTGGGCTGGGTGGGCTGGGTGGGCTGGGTGGGCTGGGTGGGCTGGGTGGGCTGGTGGGCTG"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS009842"
    },
    {
      "coordinates": [
        {
          "allele": "GGTGGGCTGGGTGGGCTGGGTGGGCTGGGTGGGCTGGGTGGGCTGGGTGGGCTGGGTGGGCTGGGTGGGCTGGGTGGGCTGGGTGGGCTGGGTGGGCTGGTGGGCTG",
          "end": 648,
          "endIntronDirection": "+",
          "endIntronOffset": 47,
          "referenceAllele": "",
          "start": 648,
          "startIntronDirection": "+",
          "startIntronOffset": 47
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011050",
      "geneNCBI_id": 6532,
      "geneSymbol": "SLC6A4",
      "hgvs": [
        "NM_001045.6:c.343+47_343+48insGGTGGGCTGGGTGGGCTGGGTGGGCTGGGTGGGCTGGGTGGGCTGGGTGGGCTGGGTGGGCTGGGTGGGCTGGGTGGGCTGGGTGGGCTGGGTGGGCTGGTGGGCTG"
      ],
      "proteinEffect": {
        "hgvs": "NP_001036.1:n.343+47_343+48insGGTGGGCTGGGTGGGCTGGGTGGGCTGGGTGGGCTGGGTGGGCTGGGTGGGCTGGGTGGGCTGGGTGGGCTGGGTGGGCTGGGTGGGCTGGGTGGGCTGGTGGGCTG"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS663205",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000650711.1:c.343+47_343+48insGGTGGGCTGGGTGGGCTGGGTGGGCTGGGTGGGCTGGGTGGGCTGGGTGGGCTGGGTGGGCTGGGTGGGCTGGGTGGGCTGGGTGGGCTGGGTGGGCTGGTGGGCTG"
          },
          "RefSeq": {
            "hgvs": "NM_001045.6:c.343+47_343+48insGGTGGGCTGGGTGGGCTGGGTGGGCTGGGTGGGCTGGGTGGGCTGGGTGGGCTGGGTGGGCTGGGTGGGCTGGGTGGGCTGGGTGGGCTGGGTGGGCTGGTGGGCTG"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000498537.1:n.343+47_343+48insGGTGGGCTGGGTGGGCTGGGTGGGCTGGGTGGGCTGGGTGGGCTGGGTGGGCTGGGTGGGCTGGGTGGGCTGGGTGGGCTGGGTGGGCTGGGTGGGCTGGTGGGCTG"
          },
          "RefSeq": {
            "hgvs": "NP_001036.1:n.343+47_343+48insGGTGGGCTGGGTGGGCTGGGTGGGCTGGGTGGGCTGGGTGGGCTGGGTGGGCTGGGTGGGCTGGGTGGGCTGGGTGGGCTGGGTGGGCTGGGTGGGCTGGTGGGCTG"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}