{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA2017048951",
  "communityStandardTitle": [
    "NM_004064.5(CDKN1B):c.*9-737G="
  ],
  "externalRecords": {
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/34329",
        "rs": 34329
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "12",
      "coordinates": [
        {
          "allele": "G",
          "end": 12720299,
          "referenceAllele": "G",
          "start": 12720298
        }
      ],
      "hgvs": [
        "NC_000012.12:g.12720299G=",
        "CM000674.2:g.12720299G="
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000060"
    },
    {
      "chromosome": "12",
      "coordinates": [
        {
          "allele": "G",
          "end": 12873233,
          "referenceAllele": "G",
          "start": 12873232
        }
      ],
      "hgvs": [
        "NC_000012.11:g.12873233G=",
        "CM000674.1:g.12873233G="
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000036"
    },
    {
      "chromosome": "12",
      "coordinates": [
        {
          "allele": "G",
          "end": 12764500,
          "referenceAllele": "G",
          "start": 12764499
        }
      ],
      "hgvs": [
        "NC_000012.10:g.12764500G="
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000012"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 7932,
          "referenceAllele": "G",
          "start": 7931
        }
      ],
      "hgvs": [
        "NG_016341.1:g.7932G="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS003108"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2422,
          "referenceAllele": "G",
          "start": 2421
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001785",
      "geneNCBI_id": 1027,
      "geneSymbol": "CDKN1B",
      "hgvs": [
        "ENST00000614874.2:c.*1353G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000507272.1:n.*1353G="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS826463"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1760,
          "endIntronDirection": "-",
          "endIntronOffset": 736,
          "referenceAllele": "G",
          "start": 1760,
          "startIntronDirection": "-",
          "startIntronOffset": 737
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001785",
      "geneNCBI_id": 1027,
      "geneSymbol": "CDKN1B",
      "hgvs": [
        "ENST00000682620.1:n.1761-737G="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS827609"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 714,
          "endIntronDirection": "-",
          "endIntronOffset": 736,
          "referenceAllele": "G",
          "start": 714,
          "startIntronDirection": "-",
          "startIntronOffset": 737
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001785",
      "geneNCBI_id": 1027,
      "geneSymbol": "CDKN1B",
      "hgvs": [
        "ENST00000684771.1:n.715-737G="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS829721"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1077,
          "endIntronDirection": "-",
          "endIntronOffset": 736,
          "referenceAllele": "G",
          "start": 1077,
          "startIntronDirection": "-",
          "startIntronOffset": 737
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001785",
      "geneNCBI_id": 1027,
      "geneSymbol": "CDKN1B",
      "hgvs": [
        "ENST00000228872.9:c.*9-737G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000228872.4:n.*9-737G="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS740767",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000228872.9:c.*9-737G="
          },
          "RefSeq": {
            "hgvs": "NM_004064.5:c.*9-737G="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000228872.4:n.*9-737G="
          },
          "RefSeq": {
            "hgvs": "NP_004055.1:n.*9-737G="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1321,
          "endIntronDirection": "-",
          "endIntronOffset": 736,
          "referenceAllele": "G",
          "start": 1321,
          "startIntronDirection": "-",
          "startIntronOffset": 737
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001785",
      "geneNCBI_id": 1027,
      "geneSymbol": "CDKN1B",
      "hgvs": [
        "ENST00000228872.8:c.*9-737G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000228872.4:n.*9-737G="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS248650"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 493,
          "endIntronDirection": "-",
          "endIntronOffset": 765,
          "referenceAllele": "G",
          "start": 493,
          "startIntronDirection": "-",
          "startIntronOffset": 766
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001785",
      "geneNCBI_id": 1027,
      "geneSymbol": "CDKN1B",
      "hgvs": [
        "ENST00000396340.1:c.476-766G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000379629.1:n.476-766G="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS277224"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 323,
          "endIntronDirection": "-",
          "endIntronOffset": 736,
          "referenceAllele": "G",
          "start": 323,
          "startIntronDirection": "-",
          "startIntronOffset": 737
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001785",
      "geneNCBI_id": 1027,
      "geneSymbol": "CDKN1B",
      "hgvs": [
        "ENST00000442489.1:c.324-737G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000407597.1:n.324-737G="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS296894"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 284,
          "endIntronDirection": "-",
          "endIntronOffset": 736,
          "referenceAllele": "G",
          "start": 284,
          "startIntronDirection": "-",
          "startIntronOffset": 737
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001785",
      "geneNCBI_id": 1027,
      "geneSymbol": "CDKN1B",
      "hgvs": [
        "ENST00000477087.1:n.285-737G="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS317985"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1175,
          "endIntronDirection": "-",
          "endIntronOffset": 736,
          "referenceAllele": "G",
          "start": 1175,
          "startIntronDirection": "-",
          "startIntronOffset": 737
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001785",
      "geneNCBI_id": 1027,
      "geneSymbol": "CDKN1B",
      "hgvs": [
        "NM_004064.4:c.*9-737G="
      ],
      "proteinEffect": {
        "hgvs": "NP_004055.1:n.*9-737G="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS029254"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1077,
          "endIntronDirection": "-",
          "endIntronOffset": 736,
          "referenceAllele": "G",
          "start": 1077,
          "startIntronDirection": "-",
          "startIntronOffset": 737
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001785",
      "geneNCBI_id": 1027,
      "geneSymbol": "CDKN1B",
      "hgvs": [
        "NM_004064.5:c.*9-737G="
      ],
      "proteinEffect": {
        "hgvs": "NP_004055.1:n.*9-737G="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS727472",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000228872.9:c.*9-737G="
          },
          "RefSeq": {
            "hgvs": "NM_004064.5:c.*9-737G="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000228872.4:n.*9-737G="
          },
          "RefSeq": {
            "hgvs": "NP_004055.1:n.*9-737G="
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}