{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA278666374",
  "communityStandardTitle": [
    "NM_001171.6(ABCC6):c.1087_1119delinsAAACGCTGTTTGAGCAGCAGAACATGTACAGGC (p.Gln363_Arg373delinsLysArgCysLeuSerSerArgThrCysThrGly)"
  ],
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    {
      "chromosome": "16",
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        {
          "allele": "GCCTGTACATGTTCTGCTGCTCAAACAGCGTTT",
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          "start": 16202057
        }
      ],
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      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000064"
    },
    {
      "chromosome": "16",
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        {
          "allele": "GCCTGTACATGTTCTGCTGCTCAAACAGCGTTT",
          "end": 16295947,
          "referenceAllele": "CCTGTACATGTTCTGCTGCTCAAACAGCGTTTG",
          "start": 16295914
        }
      ],
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      ],
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      "referenceSequence": "http://reg.genome.network/refseq/RS000040"
    },
    {
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        {
          "allele": "GCCTGTACATGTTCTGCTGCTCAAACAGCGTTT",
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          "referenceAllele": "CCTGTACATGTTCTGCTGCTCAAACAGCGTTTG",
          "start": 16203415
        }
      ],
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      ],
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      "referenceSequence": "http://reg.genome.network/refseq/RS000016"
    },
    {
      "coordinates": [
        {
          "allele": "AAACGCTGTTTGAGCAGCAGAACATGTACAGGC",
          "end": 26414,
          "referenceAllele": "CAAACGCTGTTTGAGCAGCAGAACATGTACAGG",
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      ],
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      "referenceSequence": "http://reg.genome.network/refseq/RS000648"
    },
    {
      "coordinates": [
        {
          "allele": "AAACGCTGTTTGAGCAGCAGAACATGTACAGGC",
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          "referenceAllele": "CAAACGCTGTTTGAGCAGCAGAACATGTACAGG",
          "start": 26527
        }
      ],
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      ],
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    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
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          "start": 1121
        }
      ],
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      "geneSymbol": "ABCC6",
      "hgvs": [
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      ],
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      },
      "referenceSequence": "http://reg.genome.network/refseq/RS826176"
    },
    {
      "coordinates": [
        {
          "allele": "AAACGCTGTTTGAGCAGCAGAACATGTACAGGC",
          "end": 1179,
          "referenceAllele": "CAAACGCTGTTTGAGCAGCAGAACATGTACAGG",
          "start": 1146
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000057",
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      "geneSymbol": "ABCC6",
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        "ENST00000622290.5:c.1087_1119delinsAAACGCTGTTTGAGCAGCAGAACATGTACAGGC"
      ],
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      },
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    },
    {
      "coordinates": [
        {
          "allele": "AAACGCTGTTTGAGCAGCAGAACATGTACAGGC",
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          "start": 1146
        }
      ],
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      "geneSymbol": "ABCC6",
      "hgvs": [
        "ENST00000205557.12:c.1087_1119delinsAAACGCTGTTTGAGCAGCAGAACATGTACAGGC"
      ],
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      },
      "referenceSequence": "http://reg.genome.network/refseq/RS740175",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000205557.12:c.1087_1119delinsAAACGCTGTTTGAGCAGCAGAACATGTACAGGC"
          },
          "RefSeq": {
            "hgvs": "NM_001171.6:c.1087_1119delinsAAACGCTGTTTGAGCAGCAGAACATGTACAGGC"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000205557.7:p.Gln363_Arg373delinsLysArgCysLeuSerSerArgThrCysThrGly"
          },
          "RefSeq": {
            "hgvs": "NP_001162.5:p.Gln363_Arg373delinsLysArgCysLeuSerSerArgThrCysThrGly"
          }
        }
      }
    },
    {
      "coordinates": [
        {
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        }
      ],
      "gene": "http://reg.genome.network/gene/GN000057",
      "geneNCBI_id": 368,
      "geneSymbol": "ABCC6",
      "hgvs": [
        "ENST00000205557.11:c.1087_1119delinsAAACGCTGTTTGAGCAGCAGAACATGTACAGGC"
      ],
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      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247821"
    },
    {
      "coordinates": [
        {
          "allele": "AAACGCTGTTTGAGCAGCAGAACATGTACAGGC",
          "end": 1119,
          "referenceAllele": "CAAACGCTGTTTGAGCAGCAGAACATGTACAGG",
          "start": 1086
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000057",
      "geneNCBI_id": 368,
      "geneSymbol": "ABCC6",
      "hgvs": [
        "ENST00000456970.6:c.1087_1119delinsAAACGCTGTTTGAGCAGCAGAACATGTACAGGC"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000405002.2:p.Gln363_Arg373delinsLysArgCysLeuSerSerArgThrCysThrGly",
        "hgvsWellDefined": "ENSP00000405002.2:p.Gln363_Arg373delinsLysArgCysLeuSerSerArgThrCysThrGly"
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      "referenceSequence": "http://reg.genome.network/refseq/RS303727"
    },
    {
      "coordinates": [
        {
          "allele": "AAACGCTGTTTGAGCAGCAGAACATGTACAGGC",
          "end": 1215,
          "referenceAllele": "CAAACGCTGTTTGAGCAGCAGAACATGTACAGG",
          "start": 1182
        }
      ],
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      "geneNCBI_id": 368,
      "geneSymbol": "ABCC6",
      "hgvs": [
        "ENST00000574094.5:n.1183_1215delinsAAACGCTGTTTGAGCAGCAGAACATGTACAGGC"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS383544"
    },
    {
      "coordinates": [
        {
          "allele": "AAACGCTGTTTGAGCAGCAGAACATGTACAGGC",
          "end": 1323,
          "referenceAllele": "CAAACGCTGTTTGAGCAGCAGAACATGTACAGG",
          "start": 1290
        }
      ],
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      "hgvs": [
        "ENST00000577103.1:c.*954_*986delinsAAACGCTGTTTGAGCAGCAGAACATGTACAGGC"
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      "referenceSequence": "http://reg.genome.network/refseq/RS384719"
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    {
      "coordinates": [
        {
          "allele": "AAACGCTGTTTGAGCAGCAGAACATGTACAGGC",
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      "referenceSequence": "http://reg.genome.network/refseq/RS405655"
    },
    {
      "coordinates": [
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          "allele": "AAACGCTGTTTGAGCAGCAGAACATGTACAGGC",
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      "referenceSequence": "http://reg.genome.network/refseq/RS015270"
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    {
      "coordinates": [
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          "allele": "AAACGCTGTTTGAGCAGCAGAACATGTACAGGC",
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      "referenceSequence": "http://reg.genome.network/refseq/RS089630"
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    {
      "coordinates": [
        {
          "allele": "AAACGCTGTTTGAGCAGCAGAACATGTACAGGC",
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    {
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          "allele": "AAACGCTGTTTGAGCAGCAGAACATGTACAGGC",
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    {
      "coordinates": [
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      "referenceSequence": "http://reg.genome.network/refseq/RS128735"
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    {
      "coordinates": [
        {
          "allele": "AAACGCTGTTTGAGCAGCAGAACATGTACAGGC",
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    {
      "coordinates": [
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    {
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    {
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        {
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    {
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      ],
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    {
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    {
      "coordinates": [
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      "referenceSequence": "http://reg.genome.network/refseq/RS574013"
    },
    {
      "coordinates": [
        {
          "allele": "AAACGCTGTTTGAGCAGCAGAACATGTACAGGC",
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          "referenceAllele": "CAAACGCTGTTTGAGCAGCAGAACATGTACAGG",
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    {
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        {
          "allele": "AAACGCTGTTTGAGCAGCAGAACATGTACAGGC",
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      "referenceSequence": "http://reg.genome.network/refseq/RS610311"
    },
    {
      "coordinates": [
        {
          "allele": "AAACGCTGTTTGAGCAGCAGAACATGTACAGGC",
          "end": 1300,
          "referenceAllele": "CAAACGCTGTTTGAGCAGCAGAACATGTACAGG",
          "start": 1267
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000057",
      "geneNCBI_id": 368,
      "geneSymbol": "ABCC6",
      "hgvs": [
        "XR_932837.3:n.1268_1300delinsAAACGCTGTTTGAGCAGCAGAACATGTACAGGC"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS610312"
    },
    {
      "coordinates": [
        {
          "allele": "AAACGCTGTTTGAGCAGCAGAACATGTACAGGC",
          "end": 1300,
          "referenceAllele": "CAAACGCTGTTTGAGCAGCAGAACATGTACAGG",
          "start": 1267
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000057",
      "geneNCBI_id": 368,
      "geneSymbol": "ABCC6",
      "hgvs": [
        "XR_932838.3:n.1268_1300delinsAAACGCTGTTTGAGCAGCAGAACATGTACAGGC"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS610313"
    },
    {
      "coordinates": [
        {
          "allele": "AAACGCTGTTTGAGCAGCAGAACATGTACAGGC",
          "end": 1179,
          "referenceAllele": "CAAACGCTGTTTGAGCAGCAGAACATGTACAGG",
          "start": 1146
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000057",
      "geneNCBI_id": 368,
      "geneSymbol": "ABCC6",
      "hgvs": [
        "NM_001171.6:c.1087_1119delinsAAACGCTGTTTGAGCAGCAGAACATGTACAGGC"
      ],
      "proteinEffect": {
        "hgvs": "NP_001162.5:p.Gln363_Arg373delinsLysArgCysLeuSerSerArgThrCysThrGly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS713353",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000205557.12:c.1087_1119delinsAAACGCTGTTTGAGCAGCAGAACATGTACAGGC"
          },
          "RefSeq": {
            "hgvs": "NM_001171.6:c.1087_1119delinsAAACGCTGTTTGAGCAGCAGAACATGTACAGGC"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000205557.7:p.Gln363_Arg373delinsLysArgCysLeuSerSerArgThrCysThrGly"
          },
          "RefSeq": {
            "hgvs": "NP_001162.5:p.Gln363_Arg373delinsLysArgCysLeuSerSerArgThrCysThrGly"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}