{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA3165433191",
  "communityStandardTitle": [
    "NM_017617.5(NOTCH1):c.2014+1G="
  ],
  "externalRecords": {
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/515726232",
        "rs": 515726232
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "9",
      "coordinates": [
        {
          "allele": "C",
          "end": 136515289,
          "referenceAllele": "C",
          "start": 136515288
        }
      ],
      "hgvs": [
        "NC_000009.12:g.136515289C=",
        "CM000671.2:g.136515289C="
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000057"
    },
    {
      "chromosome": "9",
      "coordinates": [
        {
          "allele": "C",
          "end": 139409741,
          "referenceAllele": "C",
          "start": 139409740
        }
      ],
      "hgvs": [
        "NC_000009.11:g.139409741C=",
        "CM000671.1:g.139409741C="
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000033"
    },
    {
      "chromosome": "9",
      "coordinates": [
        {
          "allele": "C",
          "end": 138529562,
          "referenceAllele": "C",
          "start": 138529561
        }
      ],
      "hgvs": [
        "NC_000009.10:g.138529562C="
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000009"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 35498,
          "referenceAllele": "G",
          "start": 35497
        }
      ],
      "hgvs": [
        "NG_007458.1:g.35498G="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS000584"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2276,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 2276,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007881",
      "geneNCBI_id": 4851,
      "geneSymbol": "NOTCH1",
      "hgvs": [
        "ENST00000651671.1:c.2014+1G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000498587.1:n.2014+1G="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS771797",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000651671.1:c.2014+1G="
          },
          "RefSeq": {
            "hgvs": "NM_017617.5:c.2014+1G="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000498587.1:n.2014+1G="
          },
          "RefSeq": {
            "hgvs": "NP_060087.3:n.2014+1G="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2276,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 2276,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007881",
      "geneNCBI_id": 4851,
      "geneSymbol": "NOTCH1",
      "hgvs": [
        "ENST00000679595.1:c.2014+1G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000506241.1:n.2014+1G="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS779223"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2111,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 2111,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007881",
      "geneNCBI_id": 4851,
      "geneSymbol": "NOTCH1",
      "hgvs": [
        "ENST00000680133.1:c.1900+1G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000505319.1:n.1900+1G="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS779754"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2276,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 2276,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007881",
      "geneNCBI_id": 4851,
      "geneSymbol": "NOTCH1",
      "hgvs": [
        "ENST00000680218.1:c.2014+1G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000505339.1:n.2014+1G="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS779838"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2162,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 2162,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007881",
      "geneNCBI_id": 4851,
      "geneSymbol": "NOTCH1",
      "hgvs": [
        "ENST00000680668.1:c.1900+1G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000506336.1:n.1900+1G="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS780283"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2249,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 2249,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007881",
      "geneNCBI_id": 4851,
      "geneSymbol": "NOTCH1",
      "hgvs": [
        "ENST00000680924.1:c.2014+1G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000506031.1:n.2014+1G="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS780538"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2276,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 2276,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007881",
      "geneNCBI_id": 4851,
      "geneSymbol": "NOTCH1",
      "hgvs": [
        "ENST00000681135.1:c.2014+1G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000506636.1:n.2014+1G="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS780747"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1674,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 1674,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007881",
      "geneNCBI_id": 4851,
      "geneSymbol": "NOTCH1",
      "hgvs": [
        "ENST00000681454.1:c.*1250+1G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000505763.1:n.*1250+1G="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS781061"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2090,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 2090,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007881",
      "geneNCBI_id": 4851,
      "geneSymbol": "NOTCH1",
      "hgvs": [
        "ENST00000277541.6:c.2014+1G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000277541.6:n.2014+1G="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS252749"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2014,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 2014,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007881",
      "geneNCBI_id": 4851,
      "geneSymbol": "NOTCH1",
      "hgvs": [
        "NM_017617.3:c.2014+1G="
      ],
      "proteinEffect": {
        "hgvs": "NP_060087.3:n.2014+1G="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS035047"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1334,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 1334,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007881",
      "geneNCBI_id": 4851,
      "geneSymbol": "NOTCH1",
      "hgvs": [
        "XM_011518717.1:c.1315+1G="
      ],
      "proteinEffect": {
        "hgvs": "XP_011517019.1:n.1315+1G="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS085891"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2276,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 2276,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007881",
      "geneNCBI_id": 4851,
      "geneSymbol": "NOTCH1",
      "hgvs": [
        "NM_017617.5:c.2014+1G="
      ],
      "proteinEffect": {
        "hgvs": "NP_060087.3:n.2014+1G="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS525815",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000651671.1:c.2014+1G="
          },
          "RefSeq": {
            "hgvs": "NM_017617.5:c.2014+1G="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000498587.1:n.2014+1G="
          },
          "RefSeq": {
            "hgvs": "NP_060087.3:n.2014+1G="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1306,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 1306,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007881",
      "geneNCBI_id": 4851,
      "geneSymbol": "NOTCH1",
      "hgvs": [
        "XM_011518717.2:c.1291+1G="
      ],
      "proteinEffect": {
        "hgvs": "XP_011517019.2:n.1291+1G="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS545044"
    }
  ],
  "type": "nucleotide"
}