{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA1519924970",
  "communityStandardTitle": [
    "NM_000892.5(KLKB1):c.1643G= (p.Cys548=)"
  ],
  "externalRecords": {
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/121964951",
        "rs": 121964951
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "4",
      "coordinates": [
        {
          "allele": "G",
          "end": 186257283,
          "referenceAllele": "G",
          "start": 186257282
        }
      ],
      "hgvs": [
        "NC_000004.12:g.186257283G=",
        "CM000666.2:g.186257283G="
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000052"
    },
    {
      "chromosome": "4",
      "coordinates": [
        {
          "allele": "G",
          "end": 187178437,
          "referenceAllele": "G",
          "start": 187178436
        }
      ],
      "hgvs": [
        "NC_000004.11:g.187178437G=",
        "CM000666.1:g.187178437G="
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000028"
    },
    {
      "chromosome": "4",
      "coordinates": [
        {
          "allele": "G",
          "end": 187415431,
          "referenceAllele": "G",
          "start": 187415430
        }
      ],
      "hgvs": [
        "NC_000004.10:g.187415431G="
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000004"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 53305,
          "referenceAllele": "G",
          "start": 53304
        }
      ],
      "hgvs": [
        "NG_012095.2:g.53305G="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS002179"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1725,
          "referenceAllele": "G",
          "start": 1724
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006371",
      "geneNCBI_id": 3818,
      "geneSymbol": "KLKB1",
      "hgvs": [
        "ENST00000264690.11:c.1643G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000264690.6:p.Cys548="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS742712",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000264690.11:c.1643G="
          },
          "RefSeq": {
            "hgvs": "NM_000892.5:c.1643G="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000264690.6:p.Cys548="
          },
          "RefSeq": {
            "hgvs": "NP_000883.2:p.Cys548="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1830,
          "referenceAllele": "G",
          "start": 1829
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006371",
      "geneNCBI_id": 3818,
      "geneSymbol": "KLKB1",
      "hgvs": [
        "ENST00000264690.10:c.1643G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000264690.6:p.Cys548="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS251560"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1704,
          "referenceAllele": "G",
          "start": 1703
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006371",
      "geneNCBI_id": 3818,
      "geneSymbol": "KLKB1",
      "hgvs": [
        "ENST00000511406.5:n.1704G="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS341682"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1786,
          "referenceAllele": "G",
          "start": 1785
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006371",
      "geneNCBI_id": 3818,
      "geneSymbol": "KLKB1",
      "hgvs": [
        "ENST00000511608.5:c.1786G="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS341835"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1725,
          "endIntronDirection": "-",
          "endIntronOffset": 737,
          "referenceAllele": "G",
          "start": 1725,
          "startIntronDirection": "-",
          "startIntronOffset": 738
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006371",
      "geneNCBI_id": 3818,
      "geneSymbol": "KLKB1",
      "hgvs": [
        "ENST00000513864.2:c.1472-738G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000424469.2:n.1472-738G="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS343495"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3069888258",
      "coordinates": [
        {
          "allele": "G",
          "end": 1714,
          "referenceAllele": "G",
          "start": 1713
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006371",
      "geneNCBI_id": 3818,
      "geneSymbol": "KLKB1",
      "hgvs": [
        "NM_000892.3:c.1643G="
      ],
      "proteinEffect": {
        "hgvs": "NP_000883.2:p.Cys548="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006919"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1747,
          "referenceAllele": "G",
          "start": 1746
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006371",
      "geneNCBI_id": 3818,
      "geneSymbol": "KLKB1",
      "hgvs": [
        "XM_011531930.1:c.1676G="
      ],
      "proteinEffect": {
        "hgvs": "XP_011530232.1:p.Cys559="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS098960"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 5632,
          "referenceAllele": "G",
          "start": 5631
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006371",
      "geneNCBI_id": 3818,
      "geneSymbol": "KLKB1",
      "hgvs": [
        "XM_011531931.1:c.1676G="
      ],
      "proteinEffect": {
        "hgvs": "XP_011530233.1:p.Cys559="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS098961"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 5768,
          "referenceAllele": "G",
          "start": 5767
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006371",
      "geneNCBI_id": 3818,
      "geneSymbol": "KLKB1",
      "hgvs": [
        "XM_011531932.1:c.1562G="
      ],
      "proteinEffect": {
        "hgvs": "XP_011530234.1:p.Cys521="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS098962"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 5582,
          "referenceAllele": "G",
          "start": 5581
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006371",
      "geneNCBI_id": 3818,
      "geneSymbol": "KLKB1",
      "hgvs": [
        "XM_011531933.1:c.1562G="
      ],
      "proteinEffect": {
        "hgvs": "XP_011530235.1:p.Cys521="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS098963"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1669,
          "referenceAllele": "G",
          "start": 1668
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006371",
      "geneNCBI_id": 3818,
      "geneSymbol": "KLKB1",
      "hgvs": [
        "XM_011531934.1:c.1037G="
      ],
      "proteinEffect": {
        "hgvs": "XP_011530236.1:p.Cys346="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS098964"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3069888258",
      "coordinates": [
        {
          "allele": "G",
          "end": 1761,
          "referenceAllele": "G",
          "start": 1760
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006371",
      "geneNCBI_id": 3818,
      "geneSymbol": "KLKB1",
      "hgvs": [
        "NM_000892.4:c.1643G="
      ],
      "proteinEffect": {
        "hgvs": "NP_000883.2:p.Cys548="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS510866"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1772,
          "endIntronDirection": "-",
          "endIntronOffset": 737,
          "referenceAllele": "G",
          "start": 1772,
          "startIntronDirection": "-",
          "startIntronOffset": 738
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006371",
      "geneNCBI_id": 3818,
      "geneSymbol": "KLKB1",
      "hgvs": [
        "NM_001318394.1:c.1472-738G="
      ],
      "proteinEffect": {
        "hgvs": "NP_001305323.1:n.1472-738G="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS512879"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1792,
          "referenceAllele": "G",
          "start": 1791
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006371",
      "geneNCBI_id": 3818,
      "geneSymbol": "KLKB1",
      "hgvs": [
        "NM_001318396.1:c.1037G="
      ],
      "proteinEffect": {
        "hgvs": "NP_001305325.1:p.Cys346="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS512881"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1747,
          "referenceAllele": "G",
          "start": 1746
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006371",
      "geneNCBI_id": 3818,
      "geneSymbol": "KLKB1",
      "hgvs": [
        "XM_011531930.2:c.1676G="
      ],
      "proteinEffect": {
        "hgvs": "XP_011530232.1:p.Cys559="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS550624"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2511,
          "referenceAllele": "G",
          "start": 2510
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006371",
      "geneNCBI_id": 3818,
      "geneSymbol": "KLKB1",
      "hgvs": [
        "XM_017008181.1:c.1676G="
      ],
      "proteinEffect": {
        "hgvs": "XP_016863670.1:p.Cys559="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS562736"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1689,
          "endIntronDirection": "-",
          "endIntronOffset": 737,
          "referenceAllele": "G",
          "start": 1689,
          "startIntronDirection": "-",
          "startIntronOffset": 738
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006371",
      "geneNCBI_id": 3818,
      "geneSymbol": "KLKB1",
      "hgvs": [
        "XM_017008182.1:c.1619-738G="
      ],
      "proteinEffect": {
        "hgvs": "XP_016863671.1:n.1619-738G="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS562737"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1656,
          "endIntronDirection": "-",
          "endIntronOffset": 737,
          "referenceAllele": "G",
          "start": 1656,
          "startIntronDirection": "-",
          "startIntronOffset": 738
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006371",
      "geneNCBI_id": 3818,
      "geneSymbol": "KLKB1",
      "hgvs": [
        "XM_017008183.1:c.1586-738G="
      ],
      "proteinEffect": {
        "hgvs": "XP_016863672.1:n.1586-738G="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS562738"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1163,
          "referenceAllele": "G",
          "start": 1162
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006371",
      "geneNCBI_id": 3818,
      "geneSymbol": "KLKB1",
      "hgvs": [
        "XM_017008184.1:c.1037G="
      ],
      "proteinEffect": {
        "hgvs": "XP_016863673.1:p.Cys346="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS562739"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3069888258",
      "coordinates": [
        {
          "allele": "G",
          "end": 1725,
          "referenceAllele": "G",
          "start": 1724
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006371",
      "geneNCBI_id": 3818,
      "geneSymbol": "KLKB1",
      "hgvs": [
        "NM_000892.5:c.1643G="
      ],
      "proteinEffect": {
        "hgvs": "NP_000883.2:p.Cys548="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS662632",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000264690.11:c.1643G="
          },
          "RefSeq": {
            "hgvs": "NM_000892.5:c.1643G="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000264690.6:p.Cys548="
          },
          "RefSeq": {
            "hgvs": "NP_000883.2:p.Cys548="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1736,
          "endIntronDirection": "-",
          "endIntronOffset": 737,
          "referenceAllele": "G",
          "start": 1736,
          "startIntronDirection": "-",
          "startIntronOffset": 738
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006371",
      "geneNCBI_id": 3818,
      "geneSymbol": "KLKB1",
      "hgvs": [
        "NM_001318394.2:c.1472-738G="
      ],
      "proteinEffect": {
        "hgvs": "NP_001305323.1:n.1472-738G="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS684517"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1756,
          "referenceAllele": "G",
          "start": 1755
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006371",
      "geneNCBI_id": 3818,
      "geneSymbol": "KLKB1",
      "hgvs": [
        "NM_001318396.2:c.1037G="
      ],
      "proteinEffect": {
        "hgvs": "NP_001305325.1:p.Cys346="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS684519"
    }
  ],
  "type": "nucleotide"
}