{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA3169231609",
  "communityStandardTitle": [
    "NM_017617.5(NOTCH1):c.4854C= (p.Pro1618=)"
  ],
  "externalRecords": {
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/2133336406",
        "rs": 2133336406
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "9",
      "coordinates": [
        {
          "allele": "G",
          "end": 136504837,
          "referenceAllele": "G",
          "start": 136504836
        }
      ],
      "hgvs": [
        "NC_000009.12:g.136504837G=",
        "CM000671.2:g.136504837G="
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000057"
    },
    {
      "chromosome": "9",
      "coordinates": [
        {
          "allele": "G",
          "end": 139399289,
          "referenceAllele": "G",
          "start": 139399288
        }
      ],
      "hgvs": [
        "NC_000009.11:g.139399289G=",
        "CM000671.1:g.139399289G="
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000033"
    },
    {
      "chromosome": "9",
      "coordinates": [
        {
          "allele": "G",
          "end": 138519110,
          "referenceAllele": "G",
          "start": 138519109
        }
      ],
      "hgvs": [
        "NC_000009.10:g.138519110G="
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000009"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 45950,
          "referenceAllele": "C",
          "start": 45949
        }
      ],
      "hgvs": [
        "NG_007458.1:g.45950C="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS000584"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2661,
          "referenceAllele": "C",
          "start": 2660
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007881",
      "geneNCBI_id": 4851,
      "geneSymbol": "NOTCH1",
      "hgvs": [
        "ENST00000645828.1:n.2661C="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS768563"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 5116,
          "referenceAllele": "C",
          "start": 5115
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007881",
      "geneNCBI_id": 4851,
      "geneSymbol": "NOTCH1",
      "hgvs": [
        "ENST00000651671.1:c.4854C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000498587.1:p.Pro1618="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS771797",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000651671.1:c.4854C="
          },
          "RefSeq": {
            "hgvs": "NM_017617.5:c.4854C="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000498587.1:p.Pro1618="
          },
          "RefSeq": {
            "hgvs": "NP_060087.3:p.Pro1618="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 5116,
          "referenceAllele": "C",
          "start": 5115
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007881",
      "geneNCBI_id": 4851,
      "geneSymbol": "NOTCH1",
      "hgvs": [
        "ENST00000679595.1:c.4854C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000506241.1:p.Pro1618="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS779223"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 4951,
          "referenceAllele": "C",
          "start": 4950
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007881",
      "geneNCBI_id": 4851,
      "geneSymbol": "NOTCH1",
      "hgvs": [
        "ENST00000680133.1:c.4740C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000505319.1:p.Pro1580="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS779754"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 4996,
          "referenceAllele": "C",
          "start": 4995
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007881",
      "geneNCBI_id": 4851,
      "geneSymbol": "NOTCH1",
      "hgvs": [
        "ENST00000680218.1:c.4734C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000505339.1:p.Pro1578="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS779838"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 5002,
          "referenceAllele": "C",
          "start": 5001
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007881",
      "geneNCBI_id": 4851,
      "geneSymbol": "NOTCH1",
      "hgvs": [
        "ENST00000680668.1:c.4740C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000506336.1:p.Pro1580="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS780283"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2543,
          "referenceAllele": "C",
          "start": 2542
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007881",
      "geneNCBI_id": 4851,
      "geneSymbol": "NOTCH1",
      "hgvs": [
        "ENST00000680778.1:c.2451C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000506033.1:p.Pro817="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS780393"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 5084,
          "referenceAllele": "C",
          "start": 5083
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007881",
      "geneNCBI_id": 4851,
      "geneSymbol": "NOTCH1",
      "hgvs": [
        "ENST00000680924.1:c.*2254C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000506031.1:n.*2254C="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS780538"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 5197,
          "referenceAllele": "C",
          "start": 5196
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007881",
      "geneNCBI_id": 4851,
      "geneSymbol": "NOTCH1",
      "hgvs": [
        "ENST00000681135.1:c.*2463C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000506636.1:n.*2463C="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS780747"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1667,
          "referenceAllele": "C",
          "start": 1666
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007881",
      "geneNCBI_id": 4851,
      "geneSymbol": "NOTCH1",
      "hgvs": [
        "ENST00000681298.1:n.1667C="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS780909"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 4514,
          "referenceAllele": "C",
          "start": 4513
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007881",
      "geneNCBI_id": 4851,
      "geneSymbol": "NOTCH1",
      "hgvs": [
        "ENST00000681454.1:c.*4090C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000505763.1:n.*4090C="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS781061"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 4930,
          "referenceAllele": "C",
          "start": 4929
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007881",
      "geneNCBI_id": 4851,
      "geneSymbol": "NOTCH1",
      "hgvs": [
        "ENST00000277541.6:c.4854C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000277541.6:p.Pro1618="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS252749"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 9,
          "referenceAllele": "C",
          "start": 8
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007881",
      "geneNCBI_id": 4851,
      "geneSymbol": "NOTCH1",
      "hgvs": [
        "ENST00000494783.1:n.9C="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS331629"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3076171481",
      "coordinates": [
        {
          "allele": "C",
          "end": 4854,
          "referenceAllele": "C",
          "start": 4853
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007881",
      "geneNCBI_id": 4851,
      "geneSymbol": "NOTCH1",
      "hgvs": [
        "NM_017617.3:c.4854C="
      ],
      "proteinEffect": {
        "hgvs": "NP_060087.3:p.Pro1618="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS035047"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 4174,
          "referenceAllele": "C",
          "start": 4173
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007881",
      "geneNCBI_id": 4851,
      "geneSymbol": "NOTCH1",
      "hgvs": [
        "XM_011518717.1:c.4155C="
      ],
      "proteinEffect": {
        "hgvs": "XP_011517019.1:p.Pro1385="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS085891"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3076171481",
      "coordinates": [
        {
          "allele": "C",
          "end": 5116,
          "referenceAllele": "C",
          "start": 5115
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007881",
      "geneNCBI_id": 4851,
      "geneSymbol": "NOTCH1",
      "hgvs": [
        "NM_017617.5:c.4854C="
      ],
      "proteinEffect": {
        "hgvs": "NP_060087.3:p.Pro1618="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS525815",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000651671.1:c.4854C="
          },
          "RefSeq": {
            "hgvs": "NM_017617.5:c.4854C="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000498587.1:p.Pro1618="
          },
          "RefSeq": {
            "hgvs": "NP_060087.3:p.Pro1618="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 4146,
          "referenceAllele": "C",
          "start": 4145
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007881",
      "geneNCBI_id": 4851,
      "geneSymbol": "NOTCH1",
      "hgvs": [
        "XM_011518717.2:c.4131C="
      ],
      "proteinEffect": {
        "hgvs": "XP_011517019.2:p.Pro1377="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS545044"
    }
  ],
  "type": "nucleotide"
}