{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA3044554875",
  "communityStandardTitle": [
    "NM_003061.3(SLIT1):c.198-4295T>A"
  ],
  "externalRecords": {
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/2784917",
        "rs": 2784917
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "10",
      "coordinates": [
        {
          "allele": "T",
          "end": 97169185,
          "referenceAllele": "A",
          "start": 97169184
        }
      ],
      "hgvs": [
        "NC_000010.11:g.97169185A>T",
        "CM000672.2:g.97169185A>T"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000058"
    },
    {
      "chromosome": "10",
      "coordinates": [
        {
          "allele": "T",
          "end": 98928942,
          "referenceAllele": "A",
          "start": 98928941
        }
      ],
      "hgvs": [
        "NC_000010.10:g.98928942A>T",
        "CM000672.1:g.98928942A>T"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000034"
    },
    {
      "chromosome": "10",
      "coordinates": [
        {
          "allele": "T",
          "end": 98918932,
          "referenceAllele": "A",
          "start": 98918931
        }
      ],
      "hgvs": [
        "NC_000010.9:g.98918932A>T"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000010"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 482,
          "endIntronDirection": "-",
          "endIntronOffset": 4294,
          "referenceAllele": "T",
          "start": 482,
          "startIntronDirection": "-",
          "startIntronOffset": 4295
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011085",
      "geneNCBI_id": 6585,
      "geneSymbol": "SLIT1",
      "hgvs": [
        "ENST00000266058.9:c.198-4295T>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000266058.4:n.198-4295T>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS742918",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000266058.9:c.198-4295T>A"
          },
          "RefSeq": {
            "hgvs": "NM_003061.3:c.198-4295T>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000266058.4:n.198-4295T>A"
          },
          "RefSeq": {
            "hgvs": "NP_003052.2:n.198-4295T>A"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 443,
          "endIntronDirection": "-",
          "endIntronOffset": 4294,
          "referenceAllele": "T",
          "start": 443,
          "startIntronDirection": "-",
          "startIntronOffset": 4295
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011085",
      "geneNCBI_id": 6585,
      "geneSymbol": "SLIT1",
      "hgvs": [
        "ENST00000266058.8:c.198-4295T>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000266058.4:n.198-4295T>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS251873"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 146,
          "endIntronDirection": "-",
          "endIntronOffset": 4294,
          "referenceAllele": "T",
          "start": 146,
          "startIntronDirection": "-",
          "startIntronOffset": 4295
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011085",
      "geneNCBI_id": 6585,
      "geneSymbol": "SLIT1",
      "hgvs": [
        "ENST00000314867.9:c.147-4295T>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000315005.5:n.147-4295T>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS257023"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 443,
          "endIntronDirection": "-",
          "endIntronOffset": 4294,
          "referenceAllele": "T",
          "start": 443,
          "startIntronDirection": "-",
          "startIntronOffset": 4295
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011085",
      "geneNCBI_id": 6585,
      "geneSymbol": "SLIT1",
      "hgvs": [
        "ENST00000371041.3:c.198-4295T>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000360080.3:n.198-4295T>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS268385"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 281,
          "endIntronDirection": "-",
          "endIntronOffset": 4294,
          "referenceAllele": "T",
          "start": 281,
          "startIntronDirection": "-",
          "startIntronOffset": 4295
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011085",
      "geneNCBI_id": 6585,
      "geneSymbol": "SLIT1",
      "hgvs": [
        "ENST00000371070.8:c.198-4295T>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000360109.4:n.198-4295T>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS268395"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 376,
          "endIntronDirection": "-",
          "endIntronOffset": 4294,
          "referenceAllele": "T",
          "start": 376,
          "startIntronDirection": "-",
          "startIntronOffset": 4295
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011085",
      "geneNCBI_id": 6585,
      "geneSymbol": "SLIT1",
      "hgvs": [
        "ENST00000456008.2:n.377-4295T>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS303297"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1484,
          "endIntronDirection": "-",
          "endIntronOffset": 4294,
          "referenceAllele": "T",
          "start": 1484,
          "startIntronDirection": "-",
          "startIntronOffset": 4295
        }
      ],
      "gene": "http://reg.genome.network/gene/GN048348",
      "geneNCBI_id": 100533184,
      "geneSymbol": "ARHGAP19-SLIT1",
      "hgvs": [
        "ENST00000479633.2:c.1475-4295T>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000473567.1:n.1475-4295T>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS319960"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 449,
          "endIntronDirection": "-",
          "endIntronOffset": 4294,
          "referenceAllele": "T",
          "start": 449,
          "startIntronDirection": "-",
          "startIntronOffset": 4295
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011085",
      "geneNCBI_id": 6585,
      "geneSymbol": "SLIT1",
      "hgvs": [
        "NM_003061.2:c.198-4295T>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_003052.2:n.198-4295T>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS028340"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1520,
          "endIntronDirection": "-",
          "endIntronOffset": 4294,
          "referenceAllele": "T",
          "start": 1520,
          "startIntronDirection": "-",
          "startIntronOffset": 4295
        }
      ],
      "gene": "http://reg.genome.network/gene/GN048348",
      "geneNCBI_id": 100533184,
      "geneSymbol": "ARHGAP19-SLIT1",
      "hgvs": [
        "NR_037909.1:n.1521-4295T>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS050190"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 482,
          "endIntronDirection": "-",
          "endIntronOffset": 4294,
          "referenceAllele": "T",
          "start": 482,
          "startIntronDirection": "-",
          "startIntronOffset": 4295
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011085",
      "geneNCBI_id": 6585,
      "geneSymbol": "SLIT1",
      "hgvs": [
        "NM_003061.3:c.198-4295T>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_003052.2:n.198-4295T>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS665855",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000266058.9:c.198-4295T>A"
          },
          "RefSeq": {
            "hgvs": "NM_003061.3:c.198-4295T>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000266058.4:n.198-4295T>A"
          },
          "RefSeq": {
            "hgvs": "NP_003052.2:n.198-4295T>A"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}