{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA2575923701",
  "communityStandardTitle": [
    "NM_004996.4(ABCC1):c.490-91del"
  ],
  "genomicAlleles": [
    {
      "chromosome": "16",
      "coordinates": [
        {
          "allele": "",
          "end": 16016405,
          "referenceAllele": "C",
          "start": 16016404
        }
      ],
      "hgvs": [
        "NC_000016.10:g.16016405del",
        "CM000678.2:g.16016405del"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000064"
    },
    {
      "chromosome": "16",
      "coordinates": [
        {
          "allele": "",
          "end": 16110262,
          "referenceAllele": "C",
          "start": 16110261
        }
      ],
      "hgvs": [
        "NC_000016.9:g.16110262del",
        "CM000678.1:g.16110262del"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000040"
    },
    {
      "chromosome": "16",
      "coordinates": [
        {
          "allele": "",
          "end": 16017763,
          "referenceAllele": "C",
          "start": 16017762
        }
      ],
      "hgvs": [
        "NC_000016.8:g.16017763del"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000016"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 71829,
          "referenceAllele": "C",
          "start": 71828
        }
      ],
      "hgvs": [
        "NG_028268.1:g.71829del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS004162"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 71829,
          "referenceAllele": "C",
          "start": 71828
        }
      ],
      "hgvs": [
        "NG_028268.2:g.71829del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS673762"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "",
          "end": 664,
          "endIntronDirection": "-",
          "endIntronOffset": 90,
          "referenceAllele": "C",
          "start": 664,
          "startIntronDirection": "-",
          "startIntronOffset": 91
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000051",
      "geneNCBI_id": 4363,
      "geneSymbol": "ABCC1",
      "hgvs": [
        "ENST00000399408.7:c.490-91del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000382340.4:n.490-91del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS753838"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 625,
          "endIntronDirection": "-",
          "endIntronOffset": 90,
          "referenceAllele": "C",
          "start": 625,
          "startIntronDirection": "-",
          "startIntronOffset": 91
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000051",
      "geneNCBI_id": 4363,
      "geneSymbol": "ABCC1",
      "hgvs": [
        "ENST00000399410.8:c.490-91del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000382342.3:n.490-91del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS753839",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000399410.8:c.490-91del"
          },
          "RefSeq": {
            "hgvs": "NM_004996.4:c.490-91del"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000382342.3:n.490-91del"
          },
          "RefSeq": {
            "hgvs": "NP_004987.2:n.490-91del"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 664,
          "endIntronDirection": "-",
          "endIntronOffset": 90,
          "referenceAllele": "C",
          "start": 664,
          "startIntronDirection": "-",
          "startIntronOffset": 91
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000051",
      "geneNCBI_id": 4363,
      "geneSymbol": "ABCC1",
      "hgvs": [
        "ENST00000572882.3:c.490-91del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000461615.2:n.490-91del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS760697"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 564,
          "endIntronDirection": "-",
          "endIntronOffset": 90,
          "referenceAllele": "C",
          "start": 564,
          "startIntronDirection": "-",
          "startIntronOffset": 91
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000051",
      "geneNCBI_id": 4363,
      "geneSymbol": "ABCC1",
      "hgvs": [
        "ENST00000574224.2:n.565-91del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS760732"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 664,
          "endIntronDirection": "+",
          "endIntronOffset": 1777,
          "referenceAllele": "C",
          "start": 664,
          "startIntronDirection": "+",
          "startIntronOffset": 1776
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000051",
      "geneNCBI_id": 4363,
      "geneSymbol": "ABCC1",
      "hgvs": [
        "ENST00000677164.1:c.489+1777del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000502873.1:n.489+1777del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS776829"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 664,
          "endIntronDirection": "-",
          "endIntronOffset": 90,
          "referenceAllele": "C",
          "start": 664,
          "startIntronDirection": "-",
          "startIntronOffset": 91
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000051",
      "geneNCBI_id": 4363,
      "geneSymbol": "ABCC1",
      "hgvs": [
        "ENST00000678422.1:c.490-91del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000503954.1:n.490-91del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS778068"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 441,
          "endIntronDirection": "-",
          "endIntronOffset": 90,
          "referenceAllele": "C",
          "start": 441,
          "startIntronDirection": "-",
          "startIntronOffset": 91
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000051",
      "geneNCBI_id": 4363,
      "geneSymbol": "ABCC1",
      "hgvs": [
        "ENST00000679043.1:n.442-91del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS778678"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 664,
          "endIntronDirection": "-",
          "endIntronOffset": 90,
          "referenceAllele": "C",
          "start": 664,
          "startIntronDirection": "-",
          "startIntronOffset": 91
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000051",
      "geneNCBI_id": 4363,
      "geneSymbol": "ABCC1",
      "hgvs": [
        "ENST00000399408.6:c.-489-91del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000382340.3:n.-489-91del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS278665"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 664,
          "endIntronDirection": "-",
          "endIntronOffset": 90,
          "referenceAllele": "C",
          "start": 664,
          "startIntronDirection": "-",
          "startIntronOffset": 91
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000051",
      "geneNCBI_id": 4363,
      "geneSymbol": "ABCC1",
      "hgvs": [
        "ENST00000399410.7:c.490-91del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000382342.3:n.490-91del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS278667"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 184,
          "endIntronDirection": "-",
          "endIntronOffset": 90,
          "referenceAllele": "C",
          "start": 184,
          "startIntronDirection": "-",
          "startIntronOffset": 91
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000051",
      "geneNCBI_id": 4363,
      "geneSymbol": "ABCC1",
      "hgvs": [
        "ENST00000572882.2:c.185-91del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS383081"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 89,
          "endIntronDirection": "-",
          "endIntronOffset": 90,
          "referenceAllele": "C",
          "start": 89,
          "startIntronDirection": "-",
          "startIntronOffset": 91
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000051",
      "geneNCBI_id": 4363,
      "geneSymbol": "ABCC1",
      "hgvs": [
        "ENST00000574224.1:n.90-91del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS383597"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 664,
          "endIntronDirection": "-",
          "endIntronOffset": 90,
          "referenceAllele": "C",
          "start": 664,
          "startIntronDirection": "-",
          "startIntronOffset": 91
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000051",
      "geneNCBI_id": 4363,
      "geneSymbol": "ABCC1",
      "hgvs": [
        "NM_004996.3:c.490-91del"
      ],
      "proteinEffect": {
        "hgvs": "NP_004987.2:n.490-91del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS030126"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 480,
          "endIntronDirection": "-",
          "endIntronOffset": 90,
          "referenceAllele": "C",
          "start": 480,
          "startIntronDirection": "-",
          "startIntronOffset": 91
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000051",
      "geneNCBI_id": 4363,
      "geneSymbol": "ABCC1",
      "hgvs": [
        "XM_011522497.1:c.466-91del"
      ],
      "proteinEffect": {
        "hgvs": "XP_011520799.1:n.466-91del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS089648"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 556,
          "endIntronDirection": "-",
          "endIntronOffset": 90,
          "referenceAllele": "C",
          "start": 556,
          "startIntronDirection": "-",
          "startIntronOffset": 91
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000051",
      "geneNCBI_id": 4363,
      "geneSymbol": "ABCC1",
      "hgvs": [
        "XM_011522498.1:c.544-91del"
      ],
      "proteinEffect": {
        "hgvs": "XP_011520800.1:n.544-91del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS089649"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 546,
          "endIntronDirection": "-",
          "endIntronOffset": 90,
          "referenceAllele": "C",
          "start": 546,
          "startIntronDirection": "-",
          "startIntronOffset": 91
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000051",
      "geneNCBI_id": 4363,
      "geneSymbol": "ABCC1",
      "hgvs": [
        "XM_011522498.2:c.544-91del"
      ],
      "proteinEffect": {
        "hgvs": "XP_011520800.1:n.544-91del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS546624"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 546,
          "endIntronDirection": "-",
          "endIntronOffset": 90,
          "referenceAllele": "C",
          "start": 546,
          "startIntronDirection": "-",
          "startIntronOffset": 91
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000051",
      "geneNCBI_id": 4363,
      "geneSymbol": "ABCC1",
      "hgvs": [
        "XM_017023237.1:c.544-91del"
      ],
      "proteinEffect": {
        "hgvs": "XP_016878726.1:n.544-91del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS574033"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 546,
          "endIntronDirection": "+",
          "endIntronOffset": 1777,
          "referenceAllele": "C",
          "start": 546,
          "startIntronDirection": "+",
          "startIntronOffset": 1776
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000051",
      "geneNCBI_id": 4363,
      "geneSymbol": "ABCC1",
      "hgvs": [
        "XM_017023238.1:c.543+1777del"
      ],
      "proteinEffect": {
        "hgvs": "XP_016878727.1:n.543+1777del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS574034"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 408,
          "endIntronDirection": "-",
          "endIntronOffset": 90,
          "referenceAllele": "C",
          "start": 408,
          "startIntronDirection": "-",
          "startIntronOffset": 91
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000051",
      "geneNCBI_id": 4363,
      "geneSymbol": "ABCC1",
      "hgvs": [
        "XM_017023239.1:c.406-91del"
      ],
      "proteinEffect": {
        "hgvs": "XP_016878728.1:n.406-91del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS574035"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 546,
          "endIntronDirection": "-",
          "endIntronOffset": 90,
          "referenceAllele": "C",
          "start": 546,
          "startIntronDirection": "-",
          "startIntronOffset": 91
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000051",
      "geneNCBI_id": 4363,
      "geneSymbol": "ABCC1",
      "hgvs": [
        "XM_017023240.1:c.544-91del"
      ],
      "proteinEffect": {
        "hgvs": "XP_016878729.1:n.544-91del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS574036"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 408,
          "endIntronDirection": "+",
          "endIntronOffset": 6504,
          "referenceAllele": "C",
          "start": 408,
          "startIntronDirection": "+",
          "startIntronOffset": 6503
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000051",
      "geneNCBI_id": 4363,
      "geneSymbol": "ABCC1",
      "hgvs": [
        "XM_017023241.1:c.405+6504del"
      ],
      "proteinEffect": {
        "hgvs": "XP_016878730.1:n.405+6504del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS574037"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 546,
          "endIntronDirection": "-",
          "endIntronOffset": 90,
          "referenceAllele": "C",
          "start": 546,
          "startIntronDirection": "-",
          "startIntronOffset": 91
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000051",
      "geneNCBI_id": 4363,
      "geneSymbol": "ABCC1",
      "hgvs": [
        "XM_017023242.1:c.544-91del"
      ],
      "proteinEffect": {
        "hgvs": "XP_016878731.1:n.544-91del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS574038"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 546,
          "endIntronDirection": "-",
          "endIntronOffset": 90,
          "referenceAllele": "C",
          "start": 546,
          "startIntronDirection": "-",
          "startIntronOffset": 91
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000051",
      "geneNCBI_id": 4363,
      "geneSymbol": "ABCC1",
      "hgvs": [
        "XM_017023243.2:c.544-91del"
      ],
      "proteinEffect": {
        "hgvs": "XP_016878732.1:n.544-91del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS574039"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 625,
          "endIntronDirection": "-",
          "endIntronOffset": 90,
          "referenceAllele": "C",
          "start": 625,
          "startIntronDirection": "-",
          "startIntronOffset": 91
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000051",
      "geneNCBI_id": 4363,
      "geneSymbol": "ABCC1",
      "hgvs": [
        "NM_004996.4:c.490-91del"
      ],
      "proteinEffect": {
        "hgvs": "NP_004987.2:n.490-91del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS666759",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000399410.8:c.490-91del"
          },
          "RefSeq": {
            "hgvs": "NM_004996.4:c.490-91del"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000382342.3:n.490-91del"
          },
          "RefSeq": {
            "hgvs": "NP_004987.2:n.490-91del"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}