{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA16041453",
  "communityStandardTitle": [
    "NM_000352.6(ABCC8):c.1468-2A>C"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=357953[alleleid]",
        "alleleId": 357953,
        "preferredName": "NM_000352.6(ABCC8):c.1468-2A>C"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/371024",
        "RCV": [
          "RCV000411098"
        ],
        "variationId": 371024
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr11:g.17464431T>G?assembly=hg19",
        "id": "chr11:g.17464431T>G"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr11:g.17442884T>G?assembly=hg38",
        "id": "chr11:g.17442884T>G"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/1057516946",
        "rs": 1057516946
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "11",
      "coordinates": [
        {
          "allele": "G",
          "end": 17442884,
          "referenceAllele": "T",
          "start": 17442883
        }
      ],
      "hgvs": [
        "NC_000011.10:g.17442884T>G",
        "CM000673.2:g.17442884T>G"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000059"
    },
    {
      "chromosome": "11",
      "coordinates": [
        {
          "allele": "G",
          "end": 17464431,
          "referenceAllele": "T",
          "start": 17464430
        }
      ],
      "hgvs": [
        "NC_000011.9:g.17464431T>G",
        "CM000673.1:g.17464431T>G"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000035"
    },
    {
      "chromosome": "11",
      "coordinates": [
        {
          "allele": "G",
          "end": 17421007,
          "referenceAllele": "T",
          "start": 17421006
        }
      ],
      "hgvs": [
        "NC_000011.8:g.17421007T>G"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000011"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 39019,
          "referenceAllele": "A",
          "start": 39018
        }
      ],
      "hgvs": [
        "NG_008867.1:g.39019A>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001262"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1104,
          "endIntronDirection": "-",
          "endIntronOffset": 1,
          "referenceAllele": "A",
          "start": 1104,
          "startIntronDirection": "-",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000059",
      "geneNCBI_id": 6833,
      "geneSymbol": "ABCC8",
      "hgvs": [
        "ENST00000524561.2:n.1105-2A>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS825694"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1494,
          "endIntronDirection": "-",
          "endIntronOffset": 1,
          "referenceAllele": "A",
          "start": 1494,
          "startIntronDirection": "-",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000059",
      "geneNCBI_id": 6833,
      "geneSymbol": "ABCC8",
      "hgvs": [
        "ENST00000526002.2:n.1495-2A>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS825714"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1533,
          "endIntronDirection": "-",
          "endIntronOffset": 1,
          "referenceAllele": "A",
          "start": 1533,
          "startIntronDirection": "-",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000059",
      "geneNCBI_id": 6833,
      "geneSymbol": "ABCC8",
      "hgvs": [
        "ENST00000528202.6:n.1534-2A>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS825750"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1533,
          "endIntronDirection": "-",
          "endIntronOffset": 1,
          "referenceAllele": "A",
          "start": 1533,
          "startIntronDirection": "-",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000059",
      "geneNCBI_id": 6833,
      "geneSymbol": "ABCC8",
      "hgvs": [
        "ENST00000642611.2:n.1534-2A>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS826721"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1480,
          "endIntronDirection": "-",
          "endIntronOffset": 1,
          "referenceAllele": "A",
          "start": 1480,
          "startIntronDirection": "-",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000059",
      "geneNCBI_id": 6833,
      "geneSymbol": "ABCC8",
      "hgvs": [
        "ENST00000682051.1:n.1481-2A>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS827049"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1533,
          "endIntronDirection": "-",
          "endIntronOffset": 1,
          "referenceAllele": "A",
          "start": 1533,
          "startIntronDirection": "-",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000059",
      "geneNCBI_id": 6833,
      "geneSymbol": "ABCC8",
      "hgvs": [
        "ENST00000682110.1:n.1534-2A>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS827107"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1533,
          "endIntronDirection": "-",
          "endIntronOffset": 1,
          "referenceAllele": "A",
          "start": 1533,
          "startIntronDirection": "-",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000059",
      "geneNCBI_id": 6833,
      "geneSymbol": "ABCC8",
      "hgvs": [
        "ENST00000682140.1:c.1465-2A>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000507829.1:n.1465-2A>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS827137"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2772,
          "endIntronDirection": "-",
          "endIntronOffset": 1,
          "referenceAllele": "A",
          "start": 2772,
          "startIntronDirection": "-",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000059",
      "geneNCBI_id": 6833,
      "geneSymbol": "ABCC8",
      "hgvs": [
        "ENST00000682185.1:n.2773-2A>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS827182"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1533,
          "endIntronDirection": "-",
          "endIntronOffset": 1,
          "referenceAllele": "A",
          "start": 1533,
          "startIntronDirection": "-",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000059",
      "geneNCBI_id": 6833,
      "geneSymbol": "ABCC8",
      "hgvs": [
        "ENST00000682199.1:n.1534-2A>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS827195"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1533,
          "endIntronDirection": "-",
          "endIntronOffset": 1,
          "referenceAllele": "A",
          "start": 1533,
          "startIntronDirection": "-",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000059",
      "geneNCBI_id": 6833,
      "geneSymbol": "ABCC8",
      "hgvs": [
        "ENST00000682204.1:c.1465-2A>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000507094.1:n.1465-2A>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS827200"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1533,
          "endIntronDirection": "-",
          "endIntronOffset": 1,
          "referenceAllele": "A",
          "start": 1533,
          "startIntronDirection": "-",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000059",
      "geneNCBI_id": 6833,
      "geneSymbol": "ABCC8",
      "hgvs": [
        "ENST00000682215.1:n.1534-2A>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS827211"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1533,
          "endIntronDirection": "-",
          "endIntronOffset": 1,
          "referenceAllele": "A",
          "start": 1533,
          "startIntronDirection": "-",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000059",
      "geneNCBI_id": 6833,
      "geneSymbol": "ABCC8",
      "hgvs": [
        "ENST00000682288.1:c.1465-2A>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000507506.1:n.1465-2A>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS827283"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1581,
          "endIntronDirection": "-",
          "endIntronOffset": 1,
          "referenceAllele": "A",
          "start": 1581,
          "startIntronDirection": "-",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000059",
      "geneNCBI_id": 6833,
      "geneSymbol": "ABCC8",
      "hgvs": [
        "ENST00000682442.1:n.1582-2A>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS827432"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1533,
          "endIntronDirection": "-",
          "endIntronOffset": 1,
          "referenceAllele": "A",
          "start": 1533,
          "startIntronDirection": "-",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000059",
      "geneNCBI_id": 6833,
      "geneSymbol": "ABCC8",
      "hgvs": [
        "ENST00000682528.1:n.1534-2A>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS827518"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1480,
          "endIntronDirection": "-",
          "endIntronOffset": 1,
          "referenceAllele": "A",
          "start": 1480,
          "startIntronDirection": "-",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000059",
      "geneNCBI_id": 6833,
      "geneSymbol": "ABCC8",
      "hgvs": [
        "ENST00000682673.1:n.1481-2A>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS827662"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1533,
          "endIntronDirection": "-",
          "endIntronOffset": 1,
          "referenceAllele": "A",
          "start": 1533,
          "startIntronDirection": "-",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000059",
      "geneNCBI_id": 6833,
      "geneSymbol": "ABCC8",
      "hgvs": [
        "ENST00000682805.1:n.1534-2A>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS827794"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1533,
          "endIntronDirection": "-",
          "endIntronOffset": 1,
          "referenceAllele": "A",
          "start": 1533,
          "startIntronDirection": "-",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000059",
      "geneNCBI_id": 6833,
      "geneSymbol": "ABCC8",
      "hgvs": [
        "ENST00000682965.1:c.1465-2A>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000508229.1:n.1465-2A>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS827953"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1533,
          "endIntronDirection": "-",
          "endIntronOffset": 1,
          "referenceAllele": "A",
          "start": 1533,
          "startIntronDirection": "-",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000059",
      "geneNCBI_id": 6833,
      "geneSymbol": "ABCC8",
      "hgvs": [
        "ENST00000683093.1:n.1534-2A>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS828078"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1560,
          "endIntronDirection": "-",
          "endIntronOffset": 1,
          "referenceAllele": "A",
          "start": 1560,
          "startIntronDirection": "-",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000059",
      "geneNCBI_id": 6833,
      "geneSymbol": "ABCC8",
      "hgvs": [
        "ENST00000683136.1:c.1465-2A>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000507768.1:n.1465-2A>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS828121"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1533,
          "endIntronDirection": "-",
          "endIntronOffset": 1,
          "referenceAllele": "A",
          "start": 1533,
          "startIntronDirection": "-",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000059",
      "geneNCBI_id": 6833,
      "geneSymbol": "ABCC8",
      "hgvs": [
        "ENST00000683153.1:n.1534-2A>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS828138"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2447,
          "endIntronDirection": "-",
          "endIntronOffset": 1,
          "referenceAllele": "A",
          "start": 2447,
          "startIntronDirection": "-",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000059",
      "geneNCBI_id": 6833,
      "geneSymbol": "ABCC8",
      "hgvs": [
        "ENST00000683253.1:n.2448-2A>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS828235"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1533,
          "endIntronDirection": "-",
          "endIntronOffset": 1,
          "referenceAllele": "A",
          "start": 1533,
          "startIntronDirection": "-",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000059",
      "geneNCBI_id": 6833,
      "geneSymbol": "ABCC8",
      "hgvs": [
        "ENST00000683365.1:n.1534-2A>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS828345"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1533,
          "endIntronDirection": "-",
          "endIntronOffset": 1,
          "referenceAllele": "A",
          "start": 1533,
          "startIntronDirection": "-",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000059",
      "geneNCBI_id": 6833,
      "geneSymbol": "ABCC8",
      "hgvs": [
        "ENST00000683377.1:n.1534-2A>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS828356"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1542,
          "endIntronDirection": "-",
          "endIntronOffset": 1,
          "referenceAllele": "A",
          "start": 1542,
          "startIntronDirection": "-",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000059",
      "geneNCBI_id": 6833,
      "geneSymbol": "ABCC8",
      "hgvs": [
        "ENST00000683456.1:c.1465-2A>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000508318.1:n.1465-2A>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS828432"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1533,
          "endIntronDirection": "-",
          "endIntronOffset": 1,
          "referenceAllele": "A",
          "start": 1533,
          "startIntronDirection": "-",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000059",
      "geneNCBI_id": 6833,
      "geneSymbol": "ABCC8",
      "hgvs": [
        "ENST00000683522.1:n.1534-2A>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS828496"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1536,
          "endIntronDirection": "-",
          "endIntronOffset": 1,
          "referenceAllele": "A",
          "start": 1536,
          "startIntronDirection": "-",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000059",
      "geneNCBI_id": 6833,
      "geneSymbol": "ABCC8",
      "hgvs": [
        "ENST00000683531.1:n.1537-2A>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS828505"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1582,
          "endIntronDirection": "-",
          "endIntronOffset": 1,
          "referenceAllele": "A",
          "start": 1582,
          "startIntronDirection": "-",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000059",
      "geneNCBI_id": 6833,
      "geneSymbol": "ABCC8",
      "hgvs": [
        "ENST00000683562.1:c.1468-2A>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000508265.1:n.1468-2A>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS828535"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1533,
          "endIntronDirection": "-",
          "endIntronOffset": 1,
          "referenceAllele": "A",
          "start": 1533,
          "startIntronDirection": "-",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000059",
      "geneNCBI_id": 6833,
      "geneSymbol": "ABCC8",
      "hgvs": [
        "ENST00000683693.1:n.1534-2A>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS828664"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1492,
          "endIntronDirection": "-",
          "endIntronOffset": 1,
          "referenceAllele": "A",
          "start": 1492,
          "startIntronDirection": "-",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000059",
      "geneNCBI_id": 6833,
      "geneSymbol": "ABCC8",
      "hgvs": [
        "ENST00000683725.1:c.1468-2A>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000507496.1:n.1468-2A>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS828696"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1533,
          "endIntronDirection": "-",
          "endIntronOffset": 1,
          "referenceAllele": "A",
          "start": 1533,
          "startIntronDirection": "-",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000059",
      "geneNCBI_id": 6833,
      "geneSymbol": "ABCC8",
      "hgvs": [
        "ENST00000684010.1:n.1534-2A>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS828972"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1533,
          "endIntronDirection": "-",
          "endIntronOffset": 1,
          "referenceAllele": "A",
          "start": 1533,
          "startIntronDirection": "-",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000059",
      "geneNCBI_id": 6833,
      "geneSymbol": "ABCC8",
      "hgvs": [
        "ENST00000684157.1:n.1534-2A>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS829115"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1585,
          "endIntronDirection": "-",
          "endIntronOffset": 1,
          "referenceAllele": "A",
          "start": 1585,
          "startIntronDirection": "-",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000059",
      "geneNCBI_id": 6833,
      "geneSymbol": "ABCC8",
      "hgvs": [
        "ENST00000684253.1:n.1586-2A>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS829210"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1543,
          "endIntronDirection": "-",
          "endIntronOffset": 1,
          "referenceAllele": "A",
          "start": 1543,
          "startIntronDirection": "-",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000059",
      "geneNCBI_id": 6833,
      "geneSymbol": "ABCC8",
      "hgvs": [
        "ENST00000684288.1:c.1468-2A>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000507143.1:n.1468-2A>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS829244"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1560,
          "endIntronDirection": "-",
          "endIntronOffset": 1,
          "referenceAllele": "A",
          "start": 1560,
          "startIntronDirection": "-",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000059",
      "geneNCBI_id": 6833,
      "geneSymbol": "ABCC8",
      "hgvs": [
        "ENST00000684313.1:n.1561-2A>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS829269"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1533,
          "endIntronDirection": "-",
          "endIntronOffset": 1,
          "referenceAllele": "A",
          "start": 1533,
          "startIntronDirection": "-",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000059",
      "geneNCBI_id": 6833,
      "geneSymbol": "ABCC8",
      "hgvs": [
        "ENST00000684332.1:n.1534-2A>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS829287"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1480,
          "endIntronDirection": "-",
          "endIntronOffset": 1,
          "referenceAllele": "A",
          "start": 1480,
          "startIntronDirection": "-",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000059",
      "geneNCBI_id": 6833,
      "geneSymbol": "ABCC8",
      "hgvs": [
        "ENST00000684371.1:n.1481-2A>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS829326"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1533,
          "endIntronDirection": "-",
          "endIntronOffset": 1,
          "referenceAllele": "A",
          "start": 1533,
          "startIntronDirection": "-",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000059",
      "geneNCBI_id": 6833,
      "geneSymbol": "ABCC8",
      "hgvs": [
        "ENST00000684404.1:n.1534-2A>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS829359"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1533,
          "endIntronDirection": "-",
          "endIntronOffset": 1,
          "referenceAllele": "A",
          "start": 1533,
          "startIntronDirection": "-",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000059",
      "geneNCBI_id": 6833,
      "geneSymbol": "ABCC8",
      "hgvs": [
        "ENST00000684442.1:n.1534-2A>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS829396"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1535,
          "endIntronDirection": "-",
          "endIntronOffset": 1,
          "referenceAllele": "A",
          "start": 1535,
          "startIntronDirection": "-",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000059",
      "geneNCBI_id": 6833,
      "geneSymbol": "ABCC8",
      "hgvs": [
        "ENST00000684555.1:c.1468-2A>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000507705.1:n.1468-2A>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS829508"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1349,
          "endIntronDirection": "-",
          "endIntronOffset": 1,
          "referenceAllele": "A",
          "start": 1349,
          "startIntronDirection": "-",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000059",
      "geneNCBI_id": 6833,
      "geneSymbol": "ABCC8",
      "hgvs": [
        "ENST00000684571.1:c.1309-2A>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000506935.1:n.1309-2A>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS829524"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1401,
          "endIntronDirection": "-",
          "endIntronOffset": 1,
          "referenceAllele": "A",
          "start": 1401,
          "startIntronDirection": "-",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000059",
      "geneNCBI_id": 6833,
      "geneSymbol": "ABCC8",
      "hgvs": [
        "ENST00000684593.1:c.*1173-2A>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000507005.1:n.*1173-2A>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS829545"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1533,
          "endIntronDirection": "-",
          "endIntronOffset": 1,
          "referenceAllele": "A",
          "start": 1533,
          "startIntronDirection": "-",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000059",
      "geneNCBI_id": 6833,
      "geneSymbol": "ABCC8",
      "hgvs": [
        "ENST00000684711.1:c.1465-2A>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000506841.1:n.1465-2A>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS829662"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1536,
          "endIntronDirection": "-",
          "endIntronOffset": 1,
          "referenceAllele": "A",
          "start": 1536,
          "startIntronDirection": "-",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000059",
      "geneNCBI_id": 6833,
      "geneSymbol": "ABCC8",
      "hgvs": [
        "ENST00000302539.9:c.1468-2A>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000303960.4:n.1468-2A>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS744957"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1536,
          "endIntronDirection": "-",
          "endIntronOffset": 1,
          "referenceAllele": "A",
          "start": 1536,
          "startIntronDirection": "-",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000059",
      "geneNCBI_id": 6833,
      "geneSymbol": "ABCC8",
      "hgvs": [
        "ENST00000389817.8:c.1468-2A>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000374467.4:n.1468-2A>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS752843",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000389817.8:c.1468-2A>C"
          },
          "RefSeq": {
            "hgvs": "NM_000352.6:c.1468-2A>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000374467.4:n.1468-2A>C"
          },
          "RefSeq": {
            "hgvs": "NP_000343.2:n.1468-2A>C"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1357,
          "endIntronDirection": "+",
          "endIntronOffset": 280,
          "referenceAllele": "A",
          "start": 1357,
          "startIntronDirection": "+",
          "startIntronOffset": 279
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000059",
      "geneNCBI_id": 6833,
      "geneSymbol": "ABCC8",
      "hgvs": [
        "ENST00000532728.6:c.1357+280A>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS759302"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1495,
          "endIntronDirection": "-",
          "endIntronOffset": 1,
          "referenceAllele": "A",
          "start": 1495,
          "startIntronDirection": "-",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000059",
      "geneNCBI_id": 6833,
      "geneSymbol": "ABCC8",
      "hgvs": [
        "ENST00000635881.1:n.1496-2A>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS762707"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1499,
          "endIntronDirection": "-",
          "endIntronOffset": 1,
          "referenceAllele": "A",
          "start": 1499,
          "startIntronDirection": "-",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000059",
      "geneNCBI_id": 6833,
      "geneSymbol": "ABCC8",
      "hgvs": [
        "ENST00000642271.1:c.1465-2A>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000493749.1:n.1465-2A>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS766651"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1418,
          "endIntronDirection": "-",
          "endIntronOffset": 1,
          "referenceAllele": "A",
          "start": 1418,
          "startIntronDirection": "-",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000059",
      "geneNCBI_id": 6833,
      "geneSymbol": "ABCC8",
      "hgvs": [
        "ENST00000642611.1:n.1419-2A>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS766837"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1448,
          "endIntronDirection": "-",
          "endIntronOffset": 1,
          "referenceAllele": "A",
          "start": 1448,
          "startIntronDirection": "-",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000059",
      "geneNCBI_id": 6833,
      "geneSymbol": "ABCC8",
      "hgvs": [
        "ENST00000642902.1:c.1449-2A>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS766980"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1533,
          "endIntronDirection": "-",
          "endIntronOffset": 1,
          "referenceAllele": "A",
          "start": 1533,
          "startIntronDirection": "-",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000059",
      "geneNCBI_id": 6833,
      "geneSymbol": "ABCC8",
      "hgvs": [
        "ENST00000643260.1:c.1465-2A>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000494450.1:n.1465-2A>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS767182"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1535,
          "endIntronDirection": "-",
          "endIntronOffset": 1,
          "referenceAllele": "A",
          "start": 1535,
          "startIntronDirection": "-",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000059",
      "geneNCBI_id": 6833,
      "geneSymbol": "ABCC8",
      "hgvs": [
        "ENST00000643562.1:c.1468-2A>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000496124.1:n.1468-2A>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS767346"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1432,
          "endIntronDirection": "+",
          "endIntronOffset": 5632,
          "referenceAllele": "A",
          "start": 1432,
          "startIntronDirection": "+",
          "startIntronOffset": 5631
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000059",
      "geneNCBI_id": 6833,
      "geneSymbol": "ABCC8",
      "hgvs": [
        "ENST00000644472.1:c.1329+5632A>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000495378.1:n.1329+5632A>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS767832"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1533,
          "endIntronDirection": "-",
          "endIntronOffset": 1,
          "referenceAllele": "A",
          "start": 1533,
          "startIntronDirection": "-",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000059",
      "geneNCBI_id": 6833,
      "geneSymbol": "ABCC8",
      "hgvs": [
        "ENST00000644484.1:c.1465-2A>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000493558.1:n.1465-2A>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS767838"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1387,
          "endIntronDirection": "-",
          "endIntronOffset": 1,
          "referenceAllele": "A",
          "start": 1387,
          "startIntronDirection": "-",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000059",
      "geneNCBI_id": 6833,
      "geneSymbol": "ABCC8",
      "hgvs": [
        "ENST00000644542.1:c.*1170-2A>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000495532.1:n.*1170-2A>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS767872"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 637,
          "endIntronDirection": "-",
          "endIntronOffset": 1,
          "referenceAllele": "A",
          "start": 637,
          "startIntronDirection": "-",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000059",
      "geneNCBI_id": 6833,
      "geneSymbol": "ABCC8",
      "hgvs": [
        "ENST00000644649.1:c.638-2A>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS767920"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1560,
          "endIntronDirection": "-",
          "endIntronOffset": 1,
          "referenceAllele": "A",
          "start": 1560,
          "startIntronDirection": "-",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000059",
      "geneNCBI_id": 6833,
      "geneSymbol": "ABCC8",
      "hgvs": [
        "ENST00000644675.1:c.1465-2A>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000494567.1:n.1465-2A>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS767931"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1548,
          "endIntronDirection": "-",
          "endIntronOffset": 1,
          "referenceAllele": "A",
          "start": 1548,
          "startIntronDirection": "-",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000059",
      "geneNCBI_id": 6833,
      "geneSymbol": "ABCC8",
      "hgvs": [
        "ENST00000644757.1:c.1468-2A>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000495085.1:n.1468-2A>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS767980"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1498,
          "endIntronDirection": "-",
          "endIntronOffset": 1,
          "referenceAllele": "A",
          "start": 1498,
          "startIntronDirection": "-",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000059",
      "geneNCBI_id": 6833,
      "geneSymbol": "ABCC8",
      "hgvs": [
        "ENST00000644772.1:c.1468-2A>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000494321.1:n.1468-2A>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS767987"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 749,
          "endIntronDirection": "-",
          "endIntronOffset": 1,
          "referenceAllele": "A",
          "start": 749,
          "startIntronDirection": "-",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000059",
      "geneNCBI_id": 6833,
      "geneSymbol": "ABCC8",
      "hgvs": [
        "ENST00000645076.1:c.750-2A>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS768157"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1075,
          "endIntronDirection": "-",
          "endIntronOffset": 10639,
          "referenceAllele": "A",
          "start": 1075,
          "startIntronDirection": "-",
          "startIntronOffset": 10640
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000059",
      "geneNCBI_id": 6833,
      "geneSymbol": "ABCC8",
      "hgvs": [
        "ENST00000645744.1:c.1009-10640A>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000494564.1:n.1009-10640A>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS768524"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1640,
          "endIntronDirection": "-",
          "endIntronOffset": 1,
          "referenceAllele": "A",
          "start": 1640,
          "startIntronDirection": "-",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000059",
      "geneNCBI_id": 6833,
      "geneSymbol": "ABCC8",
      "hgvs": [
        "ENST00000645760.1:c.1641-2A>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS768531"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1532,
          "endIntronDirection": "-",
          "endIntronOffset": 1,
          "referenceAllele": "A",
          "start": 1532,
          "startIntronDirection": "-",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000059",
      "geneNCBI_id": 6833,
      "geneSymbol": "ABCC8",
      "hgvs": [
        "ENST00000645884.1:c.1465-2A>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000495516.1:n.1465-2A>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS768584"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1533,
          "endIntronDirection": "-",
          "endIntronOffset": 1,
          "referenceAllele": "A",
          "start": 1533,
          "startIntronDirection": "-",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000059",
      "geneNCBI_id": 6833,
      "geneSymbol": "ABCC8",
      "hgvs": [
        "ENST00000646003.1:c.1465-2A>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000495259.1:n.1465-2A>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS768646"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1472,
          "endIntronDirection": "+",
          "endIntronOffset": 294,
          "referenceAllele": "A",
          "start": 1472,
          "startIntronDirection": "+",
          "startIntronOffset": 293
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000059",
      "geneNCBI_id": 6833,
      "geneSymbol": "ABCC8",
      "hgvs": [
        "ENST00000646207.1:c.1464+294A>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000495025.1:n.1464+294A>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS768754"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1519,
          "endIntronDirection": "-",
          "endIntronOffset": 1,
          "referenceAllele": "A",
          "start": 1519,
          "startIntronDirection": "-",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000059",
      "geneNCBI_id": 6833,
      "geneSymbol": "ABCC8",
      "hgvs": [
        "ENST00000646276.1:c.1444-2A>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000496070.1:n.1444-2A>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS768789"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 718,
          "endIntronDirection": "-",
          "endIntronOffset": 1,
          "referenceAllele": "A",
          "start": 718,
          "startIntronDirection": "-",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000059",
      "geneNCBI_id": 6833,
      "geneSymbol": "ABCC8",
      "hgvs": [
        "ENST00000646592.1:c.719-2A>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS768960"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1532,
          "endIntronDirection": "-",
          "endIntronOffset": 1,
          "referenceAllele": "A",
          "start": 1532,
          "startIntronDirection": "-",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000059",
      "geneNCBI_id": 6833,
      "geneSymbol": "ABCC8",
      "hgvs": [
        "ENST00000646902.1:c.1465-2A>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000494101.1:n.1465-2A>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS769127"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1525,
          "endIntronDirection": "-",
          "endIntronOffset": 1,
          "referenceAllele": "A",
          "start": 1525,
          "startIntronDirection": "-",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000059",
      "geneNCBI_id": 6833,
      "geneSymbol": "ABCC8",
      "hgvs": [
        "ENST00000646993.1:c.1468-2A>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000493720.1:n.1468-2A>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS769179"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1365,
          "endIntronDirection": "-",
          "endIntronOffset": 1,
          "referenceAllele": "A",
          "start": 1365,
          "startIntronDirection": "-",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000059",
      "geneNCBI_id": 6833,
      "geneSymbol": "ABCC8",
      "hgvs": [
        "ENST00000647013.1:c.1366-2A>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000496741.1:n.1366-2A>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS769189"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1535,
          "endIntronDirection": "-",
          "endIntronOffset": 1,
          "referenceAllele": "A",
          "start": 1535,
          "startIntronDirection": "-",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000059",
      "geneNCBI_id": 6833,
      "geneSymbol": "ABCC8",
      "hgvs": [
        "ENST00000647015.1:c.1468-2A>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000495389.1:n.1468-2A>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS769191"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1527,
          "endIntronDirection": "-",
          "endIntronOffset": 1,
          "referenceAllele": "A",
          "start": 1527,
          "startIntronDirection": "-",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000059",
      "geneNCBI_id": 6833,
      "geneSymbol": "ABCC8",
      "hgvs": [
        "ENST00000647086.1:c.1465-2A>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000493677.1:n.1465-2A>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS769226"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1560,
          "endIntronDirection": "-",
          "endIntronOffset": 1,
          "referenceAllele": "A",
          "start": 1560,
          "startIntronDirection": "-",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000059",
      "geneNCBI_id": 6833,
      "geneSymbol": "ABCC8",
      "hgvs": [
        "ENST00000647158.1:c.1465-2A>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000495744.1:n.1465-2A>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS769267"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1536,
          "endIntronDirection": "-",
          "endIntronOffset": 1,
          "referenceAllele": "A",
          "start": 1536,
          "startIntronDirection": "-",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000059",
      "geneNCBI_id": 6833,
      "geneSymbol": "ABCC8",
      "hgvs": [
        "ENST00000302539.8:c.1468-2A>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000303960.4:n.1468-2A>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS255198"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1536,
          "endIntronDirection": "-",
          "endIntronOffset": 1,
          "referenceAllele": "A",
          "start": 1536,
          "startIntronDirection": "-",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000059",
      "geneNCBI_id": 6833,
      "geneSymbol": "ABCC8",
      "hgvs": [
        "ENST00000389817.7:c.1468-2A>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000374467.3:n.1468-2A>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS274297"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 256,
          "endIntronDirection": "-",
          "endIntronOffset": 1,
          "referenceAllele": "A",
          "start": 256,
          "startIntronDirection": "-",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000059",
      "geneNCBI_id": 6833,
      "geneSymbol": "ABCC8",
      "hgvs": [
        "ENST00000526002.1:n.257-2A>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS351932"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1510,
          "endIntronDirection": "-",
          "endIntronOffset": 1,
          "referenceAllele": "A",
          "start": 1510,
          "startIntronDirection": "-",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000059",
      "geneNCBI_id": 6833,
      "geneSymbol": "ABCC8",
      "hgvs": [
        "ENST00000527905.5:c.1468-2A>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000431653.1:n.1468-2A>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS353525"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1498,
          "endIntronDirection": "-",
          "endIntronOffset": 1,
          "referenceAllele": "A",
          "start": 1498,
          "startIntronDirection": "-",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000059",
      "geneNCBI_id": 6833,
      "geneSymbol": "ABCC8",
      "hgvs": [
        "ENST00000532728.5:n.1499-2A>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS357611"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1536,
          "endIntronDirection": "-",
          "endIntronOffset": 1,
          "referenceAllele": "A",
          "start": 1536,
          "startIntronDirection": "-",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000059",
      "geneNCBI_id": 6833,
      "geneSymbol": "ABCC8",
      "hgvs": [
        "NM_000352.4:c.1468-2A>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_000343.2:n.1468-2A>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006415"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1536,
          "endIntronDirection": "-",
          "endIntronOffset": 1,
          "referenceAllele": "A",
          "start": 1536,
          "startIntronDirection": "-",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000059",
      "geneNCBI_id": 6833,
      "geneSymbol": "ABCC8",
      "hgvs": [
        "NM_001287174.1:c.1468-2A>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001274103.1:n.1468-2A>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS023254"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1527,
          "endIntronDirection": "-",
          "endIntronOffset": 1,
          "referenceAllele": "A",
          "start": 1527,
          "startIntronDirection": "-",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000059",
      "geneNCBI_id": 6833,
      "geneSymbol": "ABCC8",
      "hgvs": [
        "XM_011520331.1:c.1465-2A>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011518633.1:n.1465-2A>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS087499"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1530,
          "endIntronDirection": "-",
          "endIntronOffset": 1,
          "referenceAllele": "A",
          "start": 1530,
          "startIntronDirection": "-",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000059",
      "geneNCBI_id": 6833,
      "geneSymbol": "ABCC8",
      "hgvs": [
        "XM_011520332.1:c.1468-2A>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011518634.1:n.1468-2A>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS087500"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 86,
          "endIntronDirection": "-",
          "endIntronOffset": 1,
          "referenceAllele": "A",
          "start": 86,
          "startIntronDirection": "-",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000059",
      "geneNCBI_id": 6833,
      "geneSymbol": "ABCC8",
      "hgvs": [
        "XM_011520333.1:c.-36-2A>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011518635.1:n.-36-2A>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS087501"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1530,
          "endIntronDirection": "-",
          "endIntronOffset": 1,
          "referenceAllele": "A",
          "start": 1530,
          "startIntronDirection": "-",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000059",
      "geneNCBI_id": 6833,
      "geneSymbol": "ABCC8",
      "hgvs": [
        "XM_011520334.1:c.1468-2A>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011518636.1:n.1468-2A>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS087502"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1530,
          "endIntronDirection": "-",
          "endIntronOffset": 1,
          "referenceAllele": "A",
          "start": 1530,
          "startIntronDirection": "-",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000059",
      "geneNCBI_id": 6833,
      "geneSymbol": "ABCC8",
      "hgvs": [
        "XR_930890.1:n.1531-2A>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS127017"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1530,
          "endIntronDirection": "-",
          "endIntronOffset": 1,
          "referenceAllele": "A",
          "start": 1530,
          "startIntronDirection": "-",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000059",
      "geneNCBI_id": 6833,
      "geneSymbol": "ABCC8",
      "hgvs": [
        "XR_930891.1:n.1531-2A>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS127018"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1530,
          "endIntronDirection": "-",
          "endIntronOffset": 1,
          "referenceAllele": "A",
          "start": 1530,
          "startIntronDirection": "-",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000059",
      "geneNCBI_id": 6833,
      "geneSymbol": "ABCC8",
      "hgvs": [
        "XR_930892.1:n.1531-2A>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS127019"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1530,
          "endIntronDirection": "-",
          "endIntronOffset": 1,
          "referenceAllele": "A",
          "start": 1530,
          "startIntronDirection": "-",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000059",
      "geneNCBI_id": 6833,
      "geneSymbol": "ABCC8",
      "hgvs": [
        "XR_930893.1:n.1531-2A>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS127020"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1536,
          "endIntronDirection": "-",
          "endIntronOffset": 1,
          "referenceAllele": "A",
          "start": 1536,
          "startIntronDirection": "-",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000059",
      "geneNCBI_id": 6833,
      "geneSymbol": "ABCC8",
      "hgvs": [
        "NM_001351295.1:c.1468-2A>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001338224.1:n.1468-2A>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS520088"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1533,
          "endIntronDirection": "-",
          "endIntronOffset": 1,
          "referenceAllele": "A",
          "start": 1533,
          "startIntronDirection": "-",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000059",
      "geneNCBI_id": 6833,
      "geneSymbol": "ABCC8",
      "hgvs": [
        "NM_001351296.1:c.1465-2A>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001338225.1:n.1465-2A>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS520089"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1533,
          "endIntronDirection": "-",
          "endIntronOffset": 1,
          "referenceAllele": "A",
          "start": 1533,
          "startIntronDirection": "-",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000059",
      "geneNCBI_id": 6833,
      "geneSymbol": "ABCC8",
      "hgvs": [
        "NM_001351297.1:c.1465-2A>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001338226.1:n.1465-2A>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS520090"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1533,
          "endIntronDirection": "-",
          "endIntronOffset": 1,
          "referenceAllele": "A",
          "start": 1533,
          "startIntronDirection": "-",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000059",
      "geneNCBI_id": 6833,
      "geneSymbol": "ABCC8",
      "hgvs": [
        "NR_147094.1:n.1534-2A>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS530635"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1539,
          "endIntronDirection": "-",
          "endIntronOffset": 1,
          "referenceAllele": "A",
          "start": 1539,
          "startIntronDirection": "-",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000059",
      "geneNCBI_id": 6833,
      "geneSymbol": "ABCC8",
      "hgvs": [
        "XM_017018197.2:c.1468-2A>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_016873686.1:n.1468-2A>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS570195"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1535,
          "endIntronDirection": "-",
          "endIntronOffset": 1,
          "referenceAllele": "A",
          "start": 1535,
          "startIntronDirection": "-",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000059",
      "geneNCBI_id": 6833,
      "geneSymbol": "ABCC8",
      "hgvs": [
        "XM_017018199.1:c.1465-2A>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_016873688.1:n.1465-2A>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS570196"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1539,
          "endIntronDirection": "-",
          "endIntronOffset": 1,
          "referenceAllele": "A",
          "start": 1539,
          "startIntronDirection": "-",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000059",
      "geneNCBI_id": 6833,
      "geneSymbol": "ABCC8",
      "hgvs": [
        "XM_017018201.2:c.1468-2A>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_016873690.1:n.1468-2A>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS570197"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1331,
          "endIntronDirection": "-",
          "endIntronOffset": 1,
          "referenceAllele": "A",
          "start": 1331,
          "startIntronDirection": "-",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000059",
      "geneNCBI_id": 6833,
      "geneSymbol": "ABCC8",
      "hgvs": [
        "XM_017018202.1:c.-36-2A>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_016873691.1:n.-36-2A>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS570198"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 439,
          "endIntronDirection": "-",
          "endIntronOffset": 1,
          "referenceAllele": "A",
          "start": 439,
          "startIntronDirection": "-",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000059",
      "geneNCBI_id": 6833,
      "geneSymbol": "ABCC8",
      "hgvs": [
        "XM_017018204.1:c.-649-2A>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_016873693.1:n.-649-2A>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS570199"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2446,
          "endIntronDirection": "-",
          "endIntronOffset": 1,
          "referenceAllele": "A",
          "start": 2446,
          "startIntronDirection": "-",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000059",
      "geneNCBI_id": 6833,
      "geneSymbol": "ABCC8",
      "hgvs": [
        "XM_024448668.1:c.-270-2A>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_024304436.1:n.-270-2A>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS582236"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1539,
          "endIntronDirection": "-",
          "endIntronOffset": 1,
          "referenceAllele": "A",
          "start": 1539,
          "startIntronDirection": "-",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000059",
      "geneNCBI_id": 6833,
      "geneSymbol": "ABCC8",
      "hgvs": [
        "XR_001747945.2:n.1540-2A>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS596022"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1539,
          "endIntronDirection": "-",
          "endIntronOffset": 1,
          "referenceAllele": "A",
          "start": 1539,
          "startIntronDirection": "-",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000059",
      "geneNCBI_id": 6833,
      "geneSymbol": "ABCC8",
      "hgvs": [
        "XR_001747946.2:n.1540-2A>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS596023"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1539,
          "endIntronDirection": "-",
          "endIntronOffset": 1,
          "referenceAllele": "A",
          "start": 1539,
          "startIntronDirection": "-",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000059",
      "geneNCBI_id": 6833,
      "geneSymbol": "ABCC8",
      "hgvs": [
        "XR_002957189.1:n.1540-2A>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS603325"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1536,
          "endIntronDirection": "-",
          "endIntronOffset": 1,
          "referenceAllele": "A",
          "start": 1536,
          "startIntronDirection": "-",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000059",
      "geneNCBI_id": 6833,
      "geneSymbol": "ABCC8",
      "hgvs": [
        "NM_000352.6:c.1468-2A>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_000343.2:n.1468-2A>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS674803",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000389817.8:c.1468-2A>C"
          },
          "RefSeq": {
            "hgvs": "NM_000352.6:c.1468-2A>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000374467.4:n.1468-2A>C"
          },
          "RefSeq": {
            "hgvs": "NP_000343.2:n.1468-2A>C"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1536,
          "endIntronDirection": "-",
          "endIntronOffset": 1,
          "referenceAllele": "A",
          "start": 1536,
          "startIntronDirection": "-",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000059",
      "geneNCBI_id": 6833,
      "geneSymbol": "ABCC8",
      "hgvs": [
        "NM_001287174.2:c.1468-2A>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001274103.1:n.1468-2A>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS682368"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1536,
          "endIntronDirection": "-",
          "endIntronOffset": 1,
          "referenceAllele": "A",
          "start": 1536,
          "startIntronDirection": "-",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000059",
      "geneNCBI_id": 6833,
      "geneSymbol": "ABCC8",
      "hgvs": [
        "NM_001351295.2:c.1468-2A>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001338224.1:n.1468-2A>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS688742"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1533,
          "endIntronDirection": "-",
          "endIntronOffset": 1,
          "referenceAllele": "A",
          "start": 1533,
          "startIntronDirection": "-",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000059",
      "geneNCBI_id": 6833,
      "geneSymbol": "ABCC8",
      "hgvs": [
        "NM_001351296.2:c.1465-2A>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001338225.1:n.1465-2A>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS688743"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1533,
          "endIntronDirection": "-",
          "endIntronOffset": 1,
          "referenceAllele": "A",
          "start": 1533,
          "startIntronDirection": "-",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000059",
      "geneNCBI_id": 6833,
      "geneSymbol": "ABCC8",
      "hgvs": [
        "NM_001351297.2:c.1465-2A>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001338226.1:n.1465-2A>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS688744"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1533,
          "endIntronDirection": "-",
          "endIntronOffset": 1,
          "referenceAllele": "A",
          "start": 1533,
          "startIntronDirection": "-",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000059",
      "geneNCBI_id": 6833,
      "geneSymbol": "ABCC8",
      "hgvs": [
        "NR_147094.2:n.1534-2A>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS704497"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1536,
          "endIntronDirection": "-",
          "endIntronOffset": 1,
          "referenceAllele": "A",
          "start": 1536,
          "startIntronDirection": "-",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000059",
      "geneNCBI_id": 6833,
      "geneSymbol": "ABCC8",
      "hgvs": [
        "NM_001287174.3:c.1468-2A>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001274103.1:n.1468-2A>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS716342"
    }
  ],
  "type": "nucleotide"
}