{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA2036432511",
  "communityStandardTitle": [
    "NM_001320198.2(KRT86):c.1204G= (p.Glu402=)"
  ],
  "externalRecords": {
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/60687604",
        "rs": 60687604
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "12",
      "coordinates": [
        {
          "allele": "G",
          "end": 52306237,
          "referenceAllele": "G",
          "start": 52306236
        }
      ],
      "hgvs": [
        "NC_000012.12:g.52306237G=",
        "CM000674.2:g.52306237G="
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000060"
    },
    {
      "chromosome": "12",
      "coordinates": [
        {
          "allele": "G",
          "end": 52700021,
          "referenceAllele": "G",
          "start": 52700020
        }
      ],
      "hgvs": [
        "NC_000012.11:g.52700021G=",
        "CM000674.1:g.52700021G="
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000036"
    },
    {
      "chromosome": "12",
      "coordinates": [
        {
          "allele": "G",
          "end": 50986288,
          "referenceAllele": "G",
          "start": 50986287
        }
      ],
      "hgvs": [
        "NC_000012.10:g.50986288G="
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000012"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 9373,
          "referenceAllele": "G",
          "start": 9372
        }
      ],
      "hgvs": [
        "NG_008086.1:g.9373G="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS000831"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 36593,
          "referenceAllele": "G",
          "start": 36592
        }
      ],
      "hgvs": [
        "NG_008086.2:g.36593G="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS616090"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1412,
          "referenceAllele": "G",
          "start": 1411
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006463",
      "geneNCBI_id": 3892,
      "geneSymbol": "KRT86",
      "hgvs": [
        "ENST00000423955.7:c.1204G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000444533.1:p.Glu402="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS755005",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000423955.7:c.1204G="
          },
          "RefSeq": {
            "hgvs": "NM_001320198.2:c.1204G="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000444533.1:p.Glu402="
          },
          "RefSeq": {
            "hgvs": "NP_001307127.1:p.Glu402="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1256,
          "referenceAllele": "G",
          "start": 1255
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006463",
      "geneNCBI_id": 3892,
      "geneSymbol": "KRT86",
      "hgvs": [
        "ENST00000293525.5:c.1204G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000293525.5:p.Glu402="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS253888"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1382,
          "referenceAllele": "G",
          "start": 1381
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006463",
      "geneNCBI_id": 3892,
      "geneSymbol": "KRT86",
      "hgvs": [
        "ENST00000423955.6:c.1204G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000444533.1:p.Glu402="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS288018"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1256,
          "referenceAllele": "G",
          "start": 1255
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006463",
      "geneNCBI_id": 3892,
      "geneSymbol": "KRT86",
      "hgvs": [
        "NM_002284.3:c.1204G="
      ],
      "proteinEffect": {
        "hgvs": "NP_002275.1:p.Glu402="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS027604"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1524,
          "referenceAllele": "G",
          "start": 1523
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006463",
      "geneNCBI_id": 3892,
      "geneSymbol": "KRT86",
      "hgvs": [
        "XM_005268866.3:c.1435G="
      ],
      "proteinEffect": {
        "hgvs": "XP_005268923.1:p.Glu479="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS065912"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 200,
          "endIntronDirection": "+",
          "endIntronOffset": 1974,
          "referenceAllele": "C",
          "start": 200,
          "startIntronDirection": "+",
          "startIntronOffset": 1973
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006458",
      "geneNCBI_id": 3887,
      "geneSymbol": "KRT81",
      "hgvs": [
        "XM_011538334.1:c.-212+1974C="
      ],
      "proteinEffect": {
        "hgvs": "XP_011536636.1:n.-212+1974C="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS105291"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1522,
          "referenceAllele": "G",
          "start": 1521
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006463",
      "geneNCBI_id": 3892,
      "geneSymbol": "KRT86",
      "hgvs": [
        "XM_011538336.1:c.1204G="
      ],
      "proteinEffect": {
        "hgvs": "XP_011536638.1:p.Glu402="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS105293"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1408,
          "referenceAllele": "G",
          "start": 1407
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006463",
      "geneNCBI_id": 3892,
      "geneSymbol": "KRT86",
      "hgvs": [
        "XM_011538337.1:c.1204G="
      ],
      "proteinEffect": {
        "hgvs": "XP_011536639.1:p.Glu402="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS105294"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1434,
          "referenceAllele": "G",
          "start": 1433
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006463",
      "geneNCBI_id": 3892,
      "geneSymbol": "KRT86",
      "hgvs": [
        "XM_011538338.1:c.1204G="
      ],
      "proteinEffect": {
        "hgvs": "XP_011536640.1:p.Glu402="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS105295"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3079278843",
      "coordinates": [
        {
          "allele": "G",
          "end": 1412,
          "referenceAllele": "G",
          "start": 1411
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006463",
      "geneNCBI_id": 3892,
      "geneSymbol": "KRT86",
      "hgvs": [
        "NM_001320198.1:c.1204G="
      ],
      "proteinEffect": {
        "hgvs": "NP_001307127.1:p.Glu402="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS513493"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 5648,
          "referenceAllele": "G",
          "start": 5647
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006463",
      "geneNCBI_id": 3892,
      "geneSymbol": "KRT86",
      "hgvs": [
        "XM_005268866.4:c.1435G="
      ],
      "proteinEffect": {
        "hgvs": "XP_005268923.1:p.Glu479="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS536667"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1497,
          "referenceAllele": "G",
          "start": 1496
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006463",
      "geneNCBI_id": 3892,
      "geneSymbol": "KRT86",
      "hgvs": [
        "XM_017019296.1:c.1204G="
      ],
      "proteinEffect": {
        "hgvs": "XP_016874785.1:p.Glu402="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS571036"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3079278843",
      "coordinates": [
        {
          "allele": "G",
          "end": 1412,
          "referenceAllele": "G",
          "start": 1411
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006463",
      "geneNCBI_id": 3892,
      "geneSymbol": "KRT86",
      "hgvs": [
        "NM_001320198.2:c.1204G="
      ],
      "proteinEffect": {
        "hgvs": "NP_001307127.1:p.Glu402="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS684858",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000423955.7:c.1204G="
          },
          "RefSeq": {
            "hgvs": "NM_001320198.2:c.1204G="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000444533.1:p.Glu402="
          },
          "RefSeq": {
            "hgvs": "NP_001307127.1:p.Glu402="
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}