{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA2200471809",
  "communityStandardTitle": [
    "NM_002570.5(PCSK6):c.2181-221A>T"
  ],
  "externalRecords": {
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/7182874",
        "rs": 7182874
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "15",
      "coordinates": [
        {
          "allele": "A",
          "end": 101325267,
          "referenceAllele": "T",
          "start": 101325266
        }
      ],
      "hgvs": [
        "NC_000015.10:g.101325267T>A",
        "CM000677.2:g.101325267T>A"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000063"
    },
    {
      "chromosome": "15",
      "coordinates": [
        {
          "allele": "A",
          "end": 101865472,
          "referenceAllele": "T",
          "start": 101865471
        }
      ],
      "hgvs": [
        "NC_000015.9:g.101865472T>A",
        "CM000677.1:g.101865472T>A"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000039"
    },
    {
      "chromosome": "15",
      "coordinates": [
        {
          "allele": "A",
          "end": 99682995,
          "referenceAllele": "T",
          "start": 99682994
        }
      ],
      "hgvs": [
        "NC_000015.8:g.99682995T>A"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000015"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 204936,
          "referenceAllele": "A",
          "start": 204935
        }
      ],
      "hgvs": [
        "NG_030047.3:g.204936A>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS004866"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 204936,
          "referenceAllele": "A",
          "start": 204935
        }
      ],
      "hgvs": [
        "NG_030047.4:g.204936A>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS733351"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2217,
          "endIntronDirection": "-",
          "endIntronOffset": 220,
          "referenceAllele": "A",
          "start": 2217,
          "startIntronDirection": "-",
          "startIntronOffset": 221
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008569",
      "geneNCBI_id": 5046,
      "geneSymbol": "PCSK6",
      "hgvs": [
        "ENST00000611716.5:c.2181-221A>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000482760.1:n.2181-221A>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS761839",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000611716.5:c.2181-221A>T"
          },
          "RefSeq": {
            "hgvs": "NM_002570.5:c.2181-221A>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000482760.1:n.2181-221A>T"
          },
          "RefSeq": {
            "hgvs": "NP_002561.1:n.2181-221A>T"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 797,
          "endIntronDirection": "-",
          "endIntronOffset": 220,
          "referenceAllele": "A",
          "start": 797,
          "startIntronDirection": "-",
          "startIntronOffset": 221
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008569",
      "geneNCBI_id": 5046,
      "geneSymbol": "PCSK6",
      "hgvs": [
        "ENST00000676598.1:n.798-221A>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS776276"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1148,
          "endIntronDirection": "-",
          "endIntronOffset": 220,
          "referenceAllele": "A",
          "start": 1148,
          "startIntronDirection": "-",
          "startIntronOffset": 221
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008569",
      "geneNCBI_id": 5046,
      "geneSymbol": "PCSK6",
      "hgvs": [
        "ENST00000677364.1:c.1149-221A>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000503544.1:n.1149-221A>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS777027"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2215,
          "endIntronDirection": "-",
          "endIntronOffset": 220,
          "referenceAllele": "A",
          "start": 2215,
          "startIntronDirection": "-",
          "startIntronOffset": 221
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008569",
      "geneNCBI_id": 5046,
      "geneSymbol": "PCSK6",
      "hgvs": [
        "ENST00000677528.1:c.2142-221A>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000503660.1:n.2142-221A>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS777189"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3397,
          "referenceAllele": "A",
          "start": 3396
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008569",
      "geneNCBI_id": 5046,
      "geneSymbol": "PCSK6",
      "hgvs": [
        "ENST00000677962.1:n.3397A>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS777614"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1192,
          "endIntronDirection": "-",
          "endIntronOffset": 220,
          "referenceAllele": "A",
          "start": 1192,
          "startIntronDirection": "-",
          "startIntronOffset": 221
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008569",
      "geneNCBI_id": 5046,
      "geneSymbol": "PCSK6",
      "hgvs": [
        "ENST00000679007.1:n.1193-221A>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS778642"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1664,
          "endIntronDirection": "-",
          "endIntronOffset": 220,
          "referenceAllele": "A",
          "start": 1664,
          "startIntronDirection": "-",
          "startIntronOffset": 221
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008569",
      "geneNCBI_id": 5046,
      "geneSymbol": "PCSK6",
      "hgvs": [
        "ENST00000398185.6:c.1665-221A>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000381246.2:n.1665-221A>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS278169"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 123,
          "endIntronDirection": "-",
          "endIntronOffset": 11761,
          "referenceAllele": "A",
          "start": 123,
          "startIntronDirection": "-",
          "startIntronOffset": 11762
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008569",
      "geneNCBI_id": 5046,
      "geneSymbol": "PCSK6",
      "hgvs": [
        "ENST00000557794.5:n.124-11762A>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS373313"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 286,
          "endIntronDirection": "+",
          "endIntronOffset": 6384,
          "referenceAllele": "A",
          "start": 286,
          "startIntronDirection": "+",
          "startIntronOffset": 6383
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008569",
      "geneNCBI_id": 5046,
      "geneSymbol": "PCSK6",
      "hgvs": [
        "ENST00000558951.5:c.286+6384A>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000453771.1:n.286+6384A>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS374189"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 271,
          "endIntronDirection": "-",
          "endIntronOffset": 220,
          "referenceAllele": "A",
          "start": 271,
          "startIntronDirection": "-",
          "startIntronOffset": 221
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008569",
      "geneNCBI_id": 5046,
      "geneSymbol": "PCSK6",
      "hgvs": [
        "ENST00000559605.1:c.272-221A>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS374715"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2349,
          "endIntronDirection": "-",
          "endIntronOffset": 220,
          "referenceAllele": "A",
          "start": 2349,
          "startIntronDirection": "-",
          "startIntronOffset": 221
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008569",
      "geneNCBI_id": 5046,
      "geneSymbol": "PCSK6",
      "hgvs": [
        "ENST00000611716.4:c.2181-221A>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000482760.1:n.2181-221A>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS400978"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2215,
          "endIntronDirection": "-",
          "endIntronOffset": 220,
          "referenceAllele": "A",
          "start": 2215,
          "startIntronDirection": "-",
          "startIntronOffset": 221
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008569",
      "geneNCBI_id": 5046,
      "geneSymbol": "PCSK6",
      "hgvs": [
        "ENST00000618548.4:c.2142-221A>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000479496.1:n.2142-221A>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS403981"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2215,
          "endIntronDirection": "-",
          "endIntronOffset": 220,
          "referenceAllele": "A",
          "start": 2215,
          "startIntronDirection": "-",
          "startIntronOffset": 221
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008569",
      "geneNCBI_id": 5046,
      "geneSymbol": "PCSK6",
      "hgvs": [
        "ENST00000619160.4:c.2142-221A>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000482831.1:n.2142-221A>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS404254"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2254,
          "endIntronDirection": "-",
          "endIntronOffset": 220,
          "referenceAllele": "A",
          "start": 2254,
          "startIntronDirection": "-",
          "startIntronOffset": 221
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008569",
      "geneNCBI_id": 5046,
      "geneSymbol": "PCSK6",
      "hgvs": [
        "ENST00000622483.4:c.2181-221A>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000481556.1:n.2181-221A>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS405747"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 347,
          "endIntronDirection": "-",
          "endIntronOffset": 220,
          "referenceAllele": "A",
          "start": 347,
          "startIntronDirection": "-",
          "startIntronOffset": 221
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008569",
      "geneNCBI_id": 5046,
      "geneSymbol": "PCSK6",
      "hgvs": [
        "ENST00000632686.1:c.198-221A>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000487813.1:n.198-221A>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS407603"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2272,
          "endIntronDirection": "-",
          "endIntronOffset": 220,
          "referenceAllele": "A",
          "start": 2272,
          "startIntronDirection": "-",
          "startIntronOffset": 221
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008569",
      "geneNCBI_id": 5046,
      "geneSymbol": "PCSK6",
      "hgvs": [
        "NM_001291309.1:c.1959-221A>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001278238.1:n.1959-221A>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS024184"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2494,
          "endIntronDirection": "-",
          "endIntronOffset": 220,
          "referenceAllele": "A",
          "start": 2494,
          "startIntronDirection": "-",
          "startIntronOffset": 221
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008569",
      "geneNCBI_id": 5046,
      "geneSymbol": "PCSK6",
      "hgvs": [
        "NM_002570.4:c.2181-221A>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_002561.1:n.2181-221A>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS027870"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2455,
          "endIntronDirection": "-",
          "endIntronOffset": 220,
          "referenceAllele": "A",
          "start": 2455,
          "startIntronDirection": "-",
          "startIntronOffset": 221
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008569",
      "geneNCBI_id": 5046,
      "geneSymbol": "PCSK6",
      "hgvs": [
        "NM_138319.3:c.2142-221A>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_612192.1:n.2142-221A>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS040636"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2217,
          "endIntronDirection": "-",
          "endIntronOffset": 220,
          "referenceAllele": "A",
          "start": 2217,
          "startIntronDirection": "-",
          "startIntronOffset": 221
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008569",
      "geneNCBI_id": 5046,
      "geneSymbol": "PCSK6",
      "hgvs": [
        "NM_002570.5:c.2181-221A>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_002561.1:n.2181-221A>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS665598",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000611716.5:c.2181-221A>T"
          },
          "RefSeq": {
            "hgvs": "NM_002570.5:c.2181-221A>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000482760.1:n.2181-221A>T"
          },
          "RefSeq": {
            "hgvs": "NP_002561.1:n.2181-221A>T"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1995,
          "endIntronDirection": "-",
          "endIntronOffset": 220,
          "referenceAllele": "A",
          "start": 1995,
          "startIntronDirection": "-",
          "startIntronOffset": 221
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008569",
      "geneNCBI_id": 5046,
      "geneSymbol": "PCSK6",
      "hgvs": [
        "NM_001291309.2:c.1959-221A>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001278238.1:n.1959-221A>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS716681"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2178,
          "endIntronDirection": "-",
          "endIntronOffset": 220,
          "referenceAllele": "A",
          "start": 2178,
          "startIntronDirection": "-",
          "startIntronOffset": 221
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008569",
      "geneNCBI_id": 5046,
      "geneSymbol": "PCSK6",
      "hgvs": [
        "NM_138319.4:c.2142-221A>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_612192.1:n.2142-221A>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS729139"
    }
  ],
  "type": "nucleotide"
}