{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA1882678620",
  "communityStandardTitle": [
    "NM_139027.6(ADAMTS13):c.2944G= (p.Gly982=)"
  ],
  "externalRecords": {
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/36222275",
        "rs": 36222275
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "9",
      "coordinates": [
        {
          "allele": "G",
          "end": 133449865,
          "referenceAllele": "G",
          "start": 133449864
        }
      ],
      "hgvs": [
        "NC_000009.12:g.133449865G=",
        "CM000671.2:g.133449865G="
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000057"
    },
    {
      "chromosome": "9",
      "coordinates": [
        {
          "allele": "G",
          "end": 135304807,
          "referenceAllele": "G",
          "start": 135304806
        }
      ],
      "hgvs": [
        "NC_000009.10:g.135304807G="
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000009"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 40527,
          "referenceAllele": "G",
          "start": 40526
        }
      ],
      "hgvs": [
        "NG_011934.2:g.40527G=",
        "LRG_544:g.40527G="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS002061"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3021,
          "referenceAllele": "G",
          "start": 3020
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001366",
      "geneNCBI_id": 11093,
      "geneSymbol": "ADAMTS13",
      "hgvs": [
        "ENST00000355699.7:c.2944G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000347927.2:p.Gly982="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS748708",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000355699.7:c.2944G="
          },
          "RefSeq": {
            "hgvs": "NM_139027.6:c.2944G="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000347927.2:p.Gly982="
          },
          "RefSeq": {
            "hgvs": "NP_620596.2:p.Gly982="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3064,
          "referenceAllele": "G",
          "start": 3063
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001366",
      "geneNCBI_id": 11093,
      "geneSymbol": "ADAMTS13",
      "hgvs": [
        "ENST00000355699.6:c.2944G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000347927.2:p.Gly982="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS263520"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2971,
          "referenceAllele": "G",
          "start": 2970
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001366",
      "geneNCBI_id": 11093,
      "geneSymbol": "ADAMTS13",
      "hgvs": [
        "ENST00000356589.6:c.2851G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000348997.2:p.Gly951="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS263811"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2936,
          "referenceAllele": "G",
          "start": 2935
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001366",
      "geneNCBI_id": 11093,
      "geneSymbol": "ADAMTS13",
      "hgvs": [
        "ENST00000371916.5:c.*413G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000360984.2:n.*413G="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS268820"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3388,
          "referenceAllele": "G",
          "start": 3387
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001366",
      "geneNCBI_id": 11093,
      "geneSymbol": "ADAMTS13",
      "hgvs": [
        "ENST00000371929.7:c.2944G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000360997.3:p.Gly982="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS268829"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1760,
          "referenceAllele": "G",
          "start": 1759
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001366",
      "geneNCBI_id": 11093,
      "geneSymbol": "ADAMTS13",
      "hgvs": [
        "ENST00000485925.5:n.1760G="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS324843"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2931,
          "referenceAllele": "G",
          "start": 2930
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001366",
      "geneNCBI_id": 11093,
      "geneSymbol": "ADAMTS13",
      "hgvs": [
        "ENST00000495234.5:c.*1776G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000435274.1:n.*1776G="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS331974"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3388,
          "referenceAllele": "G",
          "start": 3387
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001366",
      "geneNCBI_id": 11093,
      "geneSymbol": "ADAMTS13",
      "hgvs": [
        "NM_139025.4:c.2944G=",
        "LRG_544t1:c.2944G="
      ],
      "proteinEffect": {
        "hgvs": "NP_620594.1:p.Gly982="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS040955"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3295,
          "referenceAllele": "G",
          "start": 3294
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001366",
      "geneNCBI_id": 11093,
      "geneSymbol": "ADAMTS13",
      "hgvs": [
        "NM_139026.4:c.2851G="
      ],
      "proteinEffect": {
        "hgvs": "NP_620595.1:p.Gly951="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS040956"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3075616373",
      "coordinates": [
        {
          "allele": "G",
          "end": 3388,
          "referenceAllele": "G",
          "start": 3387
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001366",
      "geneNCBI_id": 11093,
      "geneSymbol": "ADAMTS13",
      "hgvs": [
        "NM_139027.4:c.2944G="
      ],
      "proteinEffect": {
        "hgvs": "NP_620596.2:p.Gly982="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS040957"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1779,
          "referenceAllele": "G",
          "start": 1778
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001366",
      "geneNCBI_id": 11093,
      "geneSymbol": "ADAMTS13",
      "hgvs": [
        "NR_024514.2:n.1779G="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS047021"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2861,
          "referenceAllele": "G",
          "start": 2860
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001366",
      "geneNCBI_id": 11093,
      "geneSymbol": "ADAMTS13",
      "hgvs": [
        "XM_011518174.1:c.2554G="
      ],
      "proteinEffect": {
        "hgvs": "XP_011516476.1:p.Gly852="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS085350"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 4169,
          "referenceAllele": "G",
          "start": 4168
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001366",
      "geneNCBI_id": 11093,
      "geneSymbol": "ADAMTS13",
      "hgvs": [
        "XM_011518175.1:c.2944G="
      ],
      "proteinEffect": {
        "hgvs": "XP_011516477.1:p.Gly982="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS085351"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2040,
          "referenceAllele": "G",
          "start": 2039
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001366",
      "geneNCBI_id": 11093,
      "geneSymbol": "ADAMTS13",
      "hgvs": [
        "XM_011518176.1:c.1960G="
      ],
      "proteinEffect": {
        "hgvs": "XP_011516478.1:p.Gly654="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS085352"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2034,
          "referenceAllele": "G",
          "start": 2033
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001366",
      "geneNCBI_id": 11093,
      "geneSymbol": "ADAMTS13",
      "hgvs": [
        "XM_011518177.1:c.1954G="
      ],
      "proteinEffect": {
        "hgvs": "XP_011516479.1:p.Gly652="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS085353"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1714,
          "referenceAllele": "G",
          "start": 1713
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001366",
      "geneNCBI_id": 11093,
      "geneSymbol": "ADAMTS13",
      "hgvs": [
        "XM_011518178.1:c.1609G="
      ],
      "proteinEffect": {
        "hgvs": "XP_011516480.1:p.Gly537="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS085354"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1757,
          "referenceAllele": "G",
          "start": 1756
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001366",
      "geneNCBI_id": 11093,
      "geneSymbol": "ADAMTS13",
      "hgvs": [
        "XM_011518179.1:c.1609G="
      ],
      "proteinEffect": {
        "hgvs": "XP_011516481.1:p.Gly537="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS085355"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2435,
          "referenceAllele": "G",
          "start": 2434
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001366",
      "geneNCBI_id": 11093,
      "geneSymbol": "ADAMTS13",
      "hgvs": [
        "XM_011518180.1:c.1210G="
      ],
      "proteinEffect": {
        "hgvs": "XP_011516482.1:p.Gly404="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS085356"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2040,
          "referenceAllele": "G",
          "start": 2039
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001366",
      "geneNCBI_id": 11093,
      "geneSymbol": "ADAMTS13",
      "hgvs": [
        "XM_011518176.3:c.1960G="
      ],
      "proteinEffect": {
        "hgvs": "XP_011516478.1:p.Gly654="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS544806"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1714,
          "referenceAllele": "G",
          "start": 1713
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001366",
      "geneNCBI_id": 11093,
      "geneSymbol": "ADAMTS13",
      "hgvs": [
        "XM_011518178.2:c.1609G="
      ],
      "proteinEffect": {
        "hgvs": "XP_011516480.1:p.Gly537="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS544807"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3599,
          "referenceAllele": "G",
          "start": 3598
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001366",
      "geneNCBI_id": 11093,
      "geneSymbol": "ADAMTS13",
      "hgvs": [
        "XM_017014232.1:c.2932G="
      ],
      "proteinEffect": {
        "hgvs": "XP_016869721.1:p.Gly978="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS567255"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3000,
          "referenceAllele": "G",
          "start": 2999
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001366",
      "geneNCBI_id": 11093,
      "geneSymbol": "ADAMTS13",
      "hgvs": [
        "XM_017014233.1:c.2554G="
      ],
      "proteinEffect": {
        "hgvs": "XP_016869722.1:p.Gly852="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS567256"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2188,
          "referenceAllele": "G",
          "start": 2187
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001366",
      "geneNCBI_id": 11093,
      "geneSymbol": "ADAMTS13",
      "hgvs": [
        "XM_017014234.2:c.1954G="
      ],
      "proteinEffect": {
        "hgvs": "XP_016869723.1:p.Gly652="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS567257"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3717,
          "referenceAllele": "G",
          "start": 3716
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001366",
      "geneNCBI_id": 11093,
      "geneSymbol": "ADAMTS13",
      "hgvs": [
        "XR_001746171.1:n.3717G="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS594527"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2928,
          "referenceAllele": "G",
          "start": 2927
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001366",
      "geneNCBI_id": 11093,
      "geneSymbol": "ADAMTS13",
      "hgvs": [
        "NM_139026.5:c.2851G="
      ],
      "proteinEffect": {
        "hgvs": "NP_620595.1:p.Gly951="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS699826"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3075616373",
      "coordinates": [
        {
          "allele": "G",
          "end": 3021,
          "referenceAllele": "G",
          "start": 3020
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001366",
      "geneNCBI_id": 11093,
      "geneSymbol": "ADAMTS13",
      "hgvs": [
        "NM_139027.5:c.2944G="
      ],
      "proteinEffect": {
        "hgvs": "NP_620596.2:p.Gly982="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS699827"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3021,
          "referenceAllele": "G",
          "start": 3020
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001366",
      "geneNCBI_id": 11093,
      "geneSymbol": "ADAMTS13",
      "hgvs": [
        "NM_139025.5:c.2944G="
      ],
      "proteinEffect": {
        "hgvs": "NP_620594.1:p.Gly982="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS729201"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2928,
          "referenceAllele": "G",
          "start": 2927
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001366",
      "geneNCBI_id": 11093,
      "geneSymbol": "ADAMTS13",
      "hgvs": [
        "NM_139026.6:c.2851G="
      ],
      "proteinEffect": {
        "hgvs": "NP_620595.1:p.Gly951="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS729202"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3075616373",
      "coordinates": [
        {
          "allele": "G",
          "end": 3021,
          "referenceAllele": "G",
          "start": 3020
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001366",
      "geneNCBI_id": 11093,
      "geneSymbol": "ADAMTS13",
      "hgvs": [
        "NM_139027.6:c.2944G="
      ],
      "proteinEffect": {
        "hgvs": "NP_620596.2:p.Gly982="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS729203",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000355699.7:c.2944G="
          },
          "RefSeq": {
            "hgvs": "NM_139027.6:c.2944G="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000347927.2:p.Gly982="
          },
          "RefSeq": {
            "hgvs": "NP_620596.2:p.Gly982="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1781,
          "referenceAllele": "G",
          "start": 1780
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001366",
      "geneNCBI_id": 11093,
      "geneSymbol": "ADAMTS13",
      "hgvs": [
        "NR_024514.3:n.1781G="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS730190"
    }
  ],
  "type": "nucleotide"
}