{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA2617687869",
  "communityStandardTitle": [
    "NM_004064.5(CDKN1B):c.*72C>T"
  ],
  "externalRecords": {
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/763422475",
        "rs": 763422475
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/12-12721099-C-T?dataset=gnomad_r4",
        "id": "12-12721099-C-T",
        "variant": "12:12721099 C / T"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "12",
      "coordinates": [
        {
          "allele": "T",
          "end": 12721099,
          "referenceAllele": "C",
          "start": 12721098
        }
      ],
      "hgvs": [
        "NC_000012.12:g.12721099C>T",
        "CM000674.2:g.12721099C>T"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000060"
    },
    {
      "chromosome": "12",
      "coordinates": [
        {
          "allele": "T",
          "end": 12874033,
          "referenceAllele": "C",
          "start": 12874032
        }
      ],
      "hgvs": [
        "NC_000012.11:g.12874033C>T",
        "CM000674.1:g.12874033C>T"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000036"
    },
    {
      "chromosome": "12",
      "coordinates": [
        {
          "allele": "T",
          "end": 12765300,
          "referenceAllele": "C",
          "start": 12765299
        }
      ],
      "hgvs": [
        "NC_000012.10:g.12765300C>T"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000012"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 8732,
          "referenceAllele": "C",
          "start": 8731
        }
      ],
      "hgvs": [
        "NG_016341.1:g.8732C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS003108"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3222,
          "referenceAllele": "C",
          "start": 3221
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001785",
      "geneNCBI_id": 1027,
      "geneSymbol": "CDKN1B",
      "hgvs": [
        "ENST00000614874.2:c.*2153C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000507272.1:n.*2153C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS826463"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1824,
          "referenceAllele": "C",
          "start": 1823
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001785",
      "geneNCBI_id": 1027,
      "geneSymbol": "CDKN1B",
      "hgvs": [
        "ENST00000682620.1:n.1824C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS827609"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 778,
          "referenceAllele": "C",
          "start": 777
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001785",
      "geneNCBI_id": 1027,
      "geneSymbol": "CDKN1B",
      "hgvs": [
        "ENST00000684771.1:n.778C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS829721"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1141,
          "referenceAllele": "C",
          "start": 1140
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001785",
      "geneNCBI_id": 1027,
      "geneSymbol": "CDKN1B",
      "hgvs": [
        "ENST00000228872.9:c.*72C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000228872.4:n.*72C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS740767",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000228872.9:c.*72C>T"
          },
          "RefSeq": {
            "hgvs": "NM_004064.5:c.*72C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000228872.4:n.*72C>T"
          },
          "RefSeq": {
            "hgvs": "NP_004055.1:n.*72C>T"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1385,
          "referenceAllele": "C",
          "start": 1384
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001785",
      "geneNCBI_id": 1027,
      "geneSymbol": "CDKN1B",
      "hgvs": [
        "ENST00000228872.8:c.*72C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000228872.4:n.*72C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS248650"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 528,
          "referenceAllele": "C",
          "start": 527
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001785",
      "geneNCBI_id": 1027,
      "geneSymbol": "CDKN1B",
      "hgvs": [
        "ENST00000396340.1:c.510C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000379629.1:p.Tyr170="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS277224"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 387,
          "referenceAllele": "C",
          "start": 386
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001785",
      "geneNCBI_id": 1027,
      "geneSymbol": "CDKN1B",
      "hgvs": [
        "ENST00000442489.1:c.387C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000407597.1:n.387C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS296894"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 348,
          "referenceAllele": "C",
          "start": 347
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001785",
      "geneNCBI_id": 1027,
      "geneSymbol": "CDKN1B",
      "hgvs": [
        "ENST00000477087.1:n.348C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS317985"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1239,
          "referenceAllele": "C",
          "start": 1238
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001785",
      "geneNCBI_id": 1027,
      "geneSymbol": "CDKN1B",
      "hgvs": [
        "NM_004064.4:c.*72C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_004055.1:n.*72C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS029254"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1141,
          "referenceAllele": "C",
          "start": 1140
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001785",
      "geneNCBI_id": 1027,
      "geneSymbol": "CDKN1B",
      "hgvs": [
        "NM_004064.5:c.*72C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_004055.1:n.*72C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS727472",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000228872.9:c.*72C>T"
          },
          "RefSeq": {
            "hgvs": "NM_004064.5:c.*72C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000228872.4:n.*72C>T"
          },
          "RefSeq": {
            "hgvs": "NP_004055.1:n.*72C>T"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}