{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA150044",
  "communityStandardTitle": [
    "NM_001127255.2(NLRP7):c.2471+1G>A"
  ],
  "externalRecords": {
    "COSMIC": [
      {
        "active": false,
        "id": "COSM5124611"
      }
    ],
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=16624[alleleid]",
        "alleleId": 16624,
        "preferredName": "NM_001127255.2(NLRP7):c.2471+1G>A"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/1585",
        "RCV": [
          "RCV000001652"
        ],
        "variationId": 1585
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr19:g.54934488C>T?assembly=hg38",
        "id": "chr19:g.54934488C>T"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/104895505",
        "rs": 104895505
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/19-54934488-C-T?dataset=gnomad_r3",
        "id": "19-54934488-C-T",
        "variant": "19:54934488 C / T"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/19-54934488-C-T?dataset=gnomad_r4",
        "id": "19-54934488-C-T",
        "variant": "19:54934488 C / T"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "19",
      "coordinates": [
        {
          "allele": "T",
          "end": 54934488,
          "referenceAllele": "C",
          "start": 54934487
        }
      ],
      "hgvs": [
        "NC_000019.10:g.54934488C>T",
        "CM000681.2:g.54934488C>T"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000067"
    },
    {
      "chromosome": "19",
      "coordinates": [
        {
          "allele": "T",
          "end": 60137668,
          "referenceAllele": "C",
          "start": 60137667
        }
      ],
      "hgvs": [
        "NC_000019.8:g.60137668C>T"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000019"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 18018,
          "referenceAllele": "G",
          "start": 18017
        }
      ],
      "hgvs": [
        "NG_008056.1:g.18018G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS000811"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2572,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 2572,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN022947",
      "geneNCBI_id": 199713,
      "geneSymbol": "NLRP7",
      "hgvs": [
        "ENST00000592784.6:c.2471+1G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000468706.1:n.2471+1G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS906119",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000592784.6:c.2471+1G>A"
          },
          "RefSeq": {
            "hgvs": "NM_001127255.2:c.2471+1G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000468706.1:n.2471+1G>A"
          },
          "RefSeq": {
            "hgvs": "NP_001120727.1:n.2471+1G>A"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2426,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 2426,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN022947",
      "geneNCBI_id": 199713,
      "geneSymbol": "NLRP7",
      "hgvs": [
        "ENST00000328092.9:c.2387+1G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000329568.5:n.2387+1G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS258864"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2547,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 2547,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN022947",
      "geneNCBI_id": 199713,
      "geneSymbol": "NLRP7",
      "hgvs": [
        "ENST00000340844.6:c.2471+1G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000339491.2:n.2471+1G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS261185"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2539,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 2539,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN022947",
      "geneNCBI_id": 199713,
      "geneSymbol": "NLRP7",
      "hgvs": [
        "ENST00000586379.5:c.2471+1G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000468243.1:n.2471+1G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS389356"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2958,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 2958,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN022947",
      "geneNCBI_id": 199713,
      "geneSymbol": "NLRP7",
      "hgvs": [
        "ENST00000588756.5:c.2471+1G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000467123.1:n.2471+1G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS391007"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2512,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 2512,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN022947",
      "geneNCBI_id": 199713,
      "geneSymbol": "NLRP7",
      "hgvs": [
        "ENST00000590030.5:c.2471+1G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000465520.1:n.2471+1G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS391898"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2539,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 2539,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN022947",
      "geneNCBI_id": 199713,
      "geneSymbol": "NLRP7",
      "hgvs": [
        "ENST00000592784.5:c.2471+1G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000468706.1:n.2471+1G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS393805"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2547,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 2547,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN022947",
      "geneNCBI_id": 199713,
      "geneSymbol": "NLRP7",
      "hgvs": [
        "NM_001127255.1:c.2471+1G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001120727.1:n.2471+1G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS011572"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2463,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 2463,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN022947",
      "geneNCBI_id": 199713,
      "geneSymbol": "NLRP7",
      "hgvs": [
        "NM_139176.3:c.2387+1G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_631915.2:n.2387+1G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS041015"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2547,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 2547,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN022947",
      "geneNCBI_id": 199713,
      "geneSymbol": "NLRP7",
      "hgvs": [
        "NM_206828.3:c.2471+1G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_996611.2:n.2471+1G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS045291"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2782,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 2782,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN022947",
      "geneNCBI_id": 199713,
      "geneSymbol": "NLRP7",
      "hgvs": [
        "XM_006723075.2:c.2471+1G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_006723138.1:n.2471+1G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS074856"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2745,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 2745,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN022947",
      "geneNCBI_id": 199713,
      "geneSymbol": "NLRP7",
      "hgvs": [
        "XM_006723076.2:c.2471+1G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_006723139.1:n.2471+1G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS074857"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2989,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 2989,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN022947",
      "geneNCBI_id": 199713,
      "geneSymbol": "NLRP7",
      "hgvs": [
        "XM_011526596.1:c.2555+1G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011524898.1:n.2555+1G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS093698"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2864,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 2864,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN022947",
      "geneNCBI_id": 199713,
      "geneSymbol": "NLRP7",
      "hgvs": [
        "XM_011526597.1:c.2555+1G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011524899.1:n.2555+1G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS093699"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2898,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 2898,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN022947",
      "geneNCBI_id": 199713,
      "geneSymbol": "NLRP7",
      "hgvs": [
        "XM_011526598.1:c.2555+1G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011524900.1:n.2555+1G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS093700"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3000,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 3000,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN022947",
      "geneNCBI_id": 199713,
      "geneSymbol": "NLRP7",
      "hgvs": [
        "XM_011526599.1:c.2471+1G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011524901.1:n.2471+1G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS093701"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2815,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 2815,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN022947",
      "geneNCBI_id": 199713,
      "geneSymbol": "NLRP7",
      "hgvs": [
        "XM_011526600.1:c.2471+1G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011524902.1:n.2471+1G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS093702"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2989,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 2989,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN022947",
      "geneNCBI_id": 199713,
      "geneSymbol": "NLRP7",
      "hgvs": [
        "XM_011526601.1:c.2555+1G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011524903.1:n.2555+1G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS093703"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 877,
          "endIntronDirection": "-",
          "endIntronOffset": 3647,
          "referenceAllele": "C",
          "start": 877,
          "startIntronDirection": "-",
          "startIntronOffset": 3648
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006731",
      "geneNCBI_id": 9437,
      "geneSymbol": "NCR1",
      "hgvs": [
        "XM_011527530.1:c.683-3648C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011525832.1:n.683-3648C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS094624"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2989,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 2989,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN022947",
      "geneNCBI_id": 199713,
      "geneSymbol": "NLRP7",
      "hgvs": [
        "XR_935761.1:n.2989+1G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS131003"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2782,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 2782,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN022947",
      "geneNCBI_id": 199713,
      "geneSymbol": "NLRP7",
      "hgvs": [
        "XM_006723075.3:c.2471+1G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_006723138.1:n.2471+1G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS540673"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2745,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 2745,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN022947",
      "geneNCBI_id": 199713,
      "geneSymbol": "NLRP7",
      "hgvs": [
        "XM_006723076.3:c.2471+1G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_006723139.1:n.2471+1G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS540674"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2989,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 2989,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN022947",
      "geneNCBI_id": 199713,
      "geneSymbol": "NLRP7",
      "hgvs": [
        "XM_011526596.2:c.2555+1G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011524898.1:n.2555+1G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS548327"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3000,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 3000,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN022947",
      "geneNCBI_id": 199713,
      "geneSymbol": "NLRP7",
      "hgvs": [
        "XM_011526599.2:c.2471+1G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011524901.1:n.2471+1G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS548328"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2989,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 2989,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN022947",
      "geneNCBI_id": 199713,
      "geneSymbol": "NLRP7",
      "hgvs": [
        "XM_011526601.2:c.2555+1G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011524903.1:n.2555+1G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS548329"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 802,
          "endIntronDirection": "-",
          "endIntronOffset": 3647,
          "referenceAllele": "C",
          "start": 802,
          "startIntronDirection": "-",
          "startIntronOffset": 3648
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006731",
      "geneNCBI_id": 9437,
      "geneSymbol": "NCR1",
      "hgvs": [
        "XM_011527530.3:c.683-3648C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011525832.1:n.683-3648C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS548717"
    }
  ],
  "type": "nucleotide"
}