{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA218987235",
  "communityStandardTitle": [
    "NM_006157.5(NELL1):c.1786+9019T>C"
  ],
  "externalRecords": {
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr11:g.21565079T>C?assembly=hg19",
        "id": "chr11:g.21565079T>C"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr11:g.21543533T>C?assembly=hg38",
        "id": "chr11:g.21543533T>C"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/12279250",
        "rs": 12279250
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/11-21565079-T-C?dataset=gnomad_r2_1",
        "id": "11-21565079-T-C",
        "variant": "11:21565079 T / C"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/11-21543533-T-C?dataset=gnomad_r3",
        "id": "11-21543533-T-C",
        "variant": "11:21543533 T / C"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/11-21543533-T-C?dataset=gnomad_r4",
        "id": "11-21543533-T-C",
        "variant": "11:21543533 T / C"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "11",
      "coordinates": [
        {
          "allele": "C",
          "end": 21543533,
          "referenceAllele": "T",
          "start": 21543532
        }
      ],
      "hgvs": [
        "NC_000011.10:g.21543533T>C",
        "CM000673.2:g.21543533T>C"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000059"
    },
    {
      "chromosome": "11",
      "coordinates": [
        {
          "allele": "C",
          "end": 21565079,
          "referenceAllele": "T",
          "start": 21565078
        }
      ],
      "hgvs": [
        "NC_000011.9:g.21565079T>C",
        "CM000673.1:g.21565079T>C"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000035"
    },
    {
      "chromosome": "11",
      "coordinates": [
        {
          "allele": "C",
          "end": 21521655,
          "referenceAllele": "T",
          "start": 21521654
        }
      ],
      "hgvs": [
        "NC_000011.8:g.21521655T>C"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000011"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 878983,
          "referenceAllele": "T",
          "start": 878982
        }
      ],
      "hgvs": [
        "NG_047064.1:g.878983T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS616589"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1924,
          "endIntronDirection": "+",
          "endIntronOffset": 9019,
          "referenceAllele": "T",
          "start": 1924,
          "startIntronDirection": "+",
          "startIntronOffset": 9018
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007750",
      "geneNCBI_id": 4745,
      "geneSymbol": "NELL1",
      "hgvs": [
        "ENST00000357134.10:c.1786+9019T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000349654.5:n.1786+9019T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS748894",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000357134.10:c.1786+9019T>C"
          },
          "RefSeq": {
            "hgvs": "NM_006157.5:c.1786+9019T>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000349654.5:n.1786+9019T>C"
          },
          "RefSeq": {
            "hgvs": "NP_006148.2:n.1786+9019T>C"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2023,
          "endIntronDirection": "+",
          "endIntronOffset": 9019,
          "referenceAllele": "T",
          "start": 2023,
          "startIntronDirection": "+",
          "startIntronOffset": 9018
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007750",
      "geneNCBI_id": 4745,
      "geneSymbol": "NELL1",
      "hgvs": [
        "ENST00000298925.9:c.1870+9019T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000298925.5:n.1870+9019T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS254652"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1788,
          "endIntronDirection": "+",
          "endIntronOffset": 9019,
          "referenceAllele": "T",
          "start": 1788,
          "startIntronDirection": "+",
          "startIntronOffset": 9018
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007750",
      "geneNCBI_id": 4745,
      "geneSymbol": "NELL1",
      "hgvs": [
        "ENST00000325319.9:c.1615+9019T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000317837.5:n.1615+9019T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS258474"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1938,
          "endIntronDirection": "+",
          "endIntronOffset": 9019,
          "referenceAllele": "T",
          "start": 1938,
          "startIntronDirection": "+",
          "startIntronOffset": 9018
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007750",
      "geneNCBI_id": 4745,
      "geneSymbol": "NELL1",
      "hgvs": [
        "ENST00000357134.9:c.1786+9019T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000349654.5:n.1786+9019T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS263994"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1140,
          "endIntronDirection": "+",
          "endIntronOffset": 9019,
          "referenceAllele": "T",
          "start": 1140,
          "startIntronDirection": "+",
          "startIntronOffset": 9018
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007750",
      "geneNCBI_id": 4745,
      "geneSymbol": "NELL1",
      "hgvs": [
        "ENST00000529218.5:n.1140+9019T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS354640"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1708,
          "endIntronDirection": "-",
          "endIntronOffset": 16655,
          "referenceAllele": "T",
          "start": 1708,
          "startIntronDirection": "-",
          "startIntronOffset": 16656
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007750",
      "geneNCBI_id": 4745,
      "geneSymbol": "NELL1",
      "hgvs": [
        "ENST00000532434.5:c.1646-16656T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000437170.1:n.1646-16656T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS357366"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1667,
          "endIntronDirection": "+",
          "endIntronOffset": 9019,
          "referenceAllele": "T",
          "start": 1667,
          "startIntronDirection": "+",
          "startIntronOffset": 9018
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007750",
      "geneNCBI_id": 4745,
      "geneSymbol": "NELL1",
      "hgvs": [
        "ENST00000619031.4:c.1066+9019T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000479479.1:n.1066+9019T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS404193"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2043,
          "endIntronDirection": "+",
          "endIntronOffset": 9019,
          "referenceAllele": "T",
          "start": 2043,
          "startIntronDirection": "+",
          "startIntronOffset": 9018
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007750",
      "geneNCBI_id": 4745,
      "geneSymbol": "NELL1",
      "hgvs": [
        "NM_001288713.1:c.1870+9019T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001275642.1:n.1870+9019T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS023546"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1788,
          "endIntronDirection": "+",
          "endIntronOffset": 9019,
          "referenceAllele": "T",
          "start": 1788,
          "startIntronDirection": "+",
          "startIntronOffset": 9018
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007750",
      "geneNCBI_id": 4745,
      "geneSymbol": "NELL1",
      "hgvs": [
        "NM_001288714.1:c.1615+9019T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001275643.1:n.1615+9019T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS023547"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1959,
          "endIntronDirection": "+",
          "endIntronOffset": 9019,
          "referenceAllele": "T",
          "start": 1959,
          "startIntronDirection": "+",
          "startIntronOffset": 9018
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007750",
      "geneNCBI_id": 4745,
      "geneSymbol": "NELL1",
      "hgvs": [
        "NM_006157.4:c.1786+9019T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_006148.2:n.1786+9019T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS031186"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1818,
          "endIntronDirection": "-",
          "endIntronOffset": 16655,
          "referenceAllele": "T",
          "start": 1818,
          "startIntronDirection": "-",
          "startIntronOffset": 16656
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007750",
      "geneNCBI_id": 4745,
      "geneSymbol": "NELL1",
      "hgvs": [
        "NM_201551.2:c.1646-16656T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_963845.1:n.1646-16656T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS045057"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 843,
          "endIntronDirection": "+",
          "endIntronOffset": 9019,
          "referenceAllele": "T",
          "start": 843,
          "startIntronDirection": "+",
          "startIntronOffset": 9018
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007750",
      "geneNCBI_id": 4745,
      "geneSymbol": "NELL1",
      "hgvs": [
        "XM_011520119.1:c.829+9019T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011518421.1:n.829+9019T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS087288"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1924,
          "endIntronDirection": "+",
          "endIntronOffset": 9019,
          "referenceAllele": "T",
          "start": 1924,
          "startIntronDirection": "+",
          "startIntronOffset": 9018
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007750",
      "geneNCBI_id": 4745,
      "geneSymbol": "NELL1",
      "hgvs": [
        "NM_006157.5:c.1786+9019T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_006148.2:n.1786+9019T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS696626",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000357134.10:c.1786+9019T>C"
          },
          "RefSeq": {
            "hgvs": "NM_006157.5:c.1786+9019T>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000349654.5:n.1786+9019T>C"
          },
          "RefSeq": {
            "hgvs": "NP_006148.2:n.1786+9019T>C"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}