{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA379771354",
  "communityStandardTitle": [
    "NM_000352.6(ABCC8):c.1040C>G (p.Ser347Ter)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=1782197[alleleid]",
        "alleleId": 1782197,
        "preferredName": "NM_000352.6(ABCC8):c.1040C>G (p.Ser347Ter)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/1724670",
        "RCV": [
          "RCV002309938"
        ],
        "variationId": 1724670
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr11:g.17474802G>C?assembly=hg19",
        "id": "chr11:g.17474802G>C"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr11:g.17453255G>C?assembly=hg38",
        "id": "chr11:g.17453255G>C"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/2496811011",
        "rs": 2496811011
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "11",
      "coordinates": [
        {
          "allele": "C",
          "end": 17453255,
          "referenceAllele": "G",
          "start": 17453254
        }
      ],
      "hgvs": [
        "NC_000011.10:g.17453255G>C",
        "CM000673.2:g.17453255G>C"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000059"
    },
    {
      "chromosome": "11",
      "coordinates": [
        {
          "allele": "C",
          "end": 17474802,
          "referenceAllele": "G",
          "start": 17474801
        }
      ],
      "hgvs": [
        "NC_000011.9:g.17474802G>C",
        "CM000673.1:g.17474802G>C"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000035"
    },
    {
      "chromosome": "11",
      "coordinates": [
        {
          "allele": "C",
          "end": 17431378,
          "referenceAllele": "G",
          "start": 17431377
        }
      ],
      "hgvs": [
        "NC_000011.8:g.17431378G>C"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000011"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 28648,
          "referenceAllele": "C",
          "start": 28647
        }
      ],
      "hgvs": [
        "NG_008867.1:g.28648C>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001262"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 677,
          "referenceAllele": "C",
          "start": 676
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000059",
      "geneNCBI_id": 6833,
      "geneSymbol": "ABCC8",
      "hgvs": [
        "ENST00000524561.2:n.677C>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS825694"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1053,
          "referenceAllele": "C",
          "start": 1052
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000059",
      "geneNCBI_id": 6833,
      "geneSymbol": "ABCC8",
      "hgvs": [
        "ENST00000526002.2:n.1053C>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS825714"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1106,
          "referenceAllele": "C",
          "start": 1105
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000059",
      "geneNCBI_id": 6833,
      "geneSymbol": "ABCC8",
      "hgvs": [
        "ENST00000528202.6:n.1106C>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS825750"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1106,
          "referenceAllele": "C",
          "start": 1105
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000059",
      "geneNCBI_id": 6833,
      "geneSymbol": "ABCC8",
      "hgvs": [
        "ENST00000642611.2:n.1106C>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS826721"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1053,
          "referenceAllele": "C",
          "start": 1052
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000059",
      "geneNCBI_id": 6833,
      "geneSymbol": "ABCC8",
      "hgvs": [
        "ENST00000682051.1:n.1053C>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS827049"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2602,
          "referenceAllele": "C",
          "start": 2601
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000059",
      "geneNCBI_id": 6833,
      "geneSymbol": "ABCC8",
      "hgvs": [
        "ENST00000682053.1:n.2602C>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS827051"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2015,
          "referenceAllele": "C",
          "start": 2014
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000059",
      "geneNCBI_id": 6833,
      "geneSymbol": "ABCC8",
      "hgvs": [
        "ENST00000682091.1:n.2015C>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS827088"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1106,
          "referenceAllele": "C",
          "start": 1105
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000059",
      "geneNCBI_id": 6833,
      "geneSymbol": "ABCC8",
      "hgvs": [
        "ENST00000682110.1:n.1106C>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS827107"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1106,
          "referenceAllele": "C",
          "start": 1105
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000059",
      "geneNCBI_id": 6833,
      "geneSymbol": "ABCC8",
      "hgvs": [
        "ENST00000682140.1:c.1037C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000507829.1:p.Ser346Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS827137"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1106,
          "referenceAllele": "C",
          "start": 1105
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000059",
      "geneNCBI_id": 6833,
      "geneSymbol": "ABCC8",
      "hgvs": [
        "ENST00000682199.1:n.1106C>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS827195"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1106,
          "referenceAllele": "C",
          "start": 1105
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000059",
      "geneNCBI_id": 6833,
      "geneSymbol": "ABCC8",
      "hgvs": [
        "ENST00000682204.1:c.1037C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000507094.1:p.Ser346Ter",
        "hgvsWellDefined": "ENSP00000507094.1:p.Ser347_Pro570delinsGlnGluPheLeuAlaAsnAlaTyrValLeuAlaValLeuLeuPheLeuAlaLeuLeuLeuGlnArgThrPheLeuGlnAlaSerTyrTyrValAlaIleGluThrGlyIleAsnLeuArgGlyAlaIleGlnThrLysIleTyrAsnLysIleMetHisLeuSerThrSerAsnLeuSerMetGlyGluMetThrAlaGlyGlnIleCysAsnLeuValAlaIleAspThrAsnGlnLeuMetTrpPhePhePheLeuCysProAsnLeuTrpAlaMetProValGlnIleIleValGlyValIleLeuLeuTyrTyrIleLeuGlyValSerAlaLeuIleGlyAlaAlaValIleIleLeuLeuAlaProValGlnTyrPheValAlaThrLysLeuSerGlnAlaGlnArgSerThrLeuGluTyrSerAsnGluArgLeuLysGlnThrAsnGluMetLeuArgGlyIleLysLeuLeuLysLeuTyrAlaTrpGluAsnIlePheArgThrArgValGluThrThrArgArgLysGluMetThrSerLeuArgAlaPheAlaIleTyrThrSerIleSerIlePheMetAsnThrAlaIleProIleAlaAlaValLeuIleArgAlaLysAlaLysArgValProValGlnCysArgAspProTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS827200"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1106,
          "referenceAllele": "C",
          "start": 1105
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000059",
      "geneNCBI_id": 6833,
      "geneSymbol": "ABCC8",
      "hgvs": [
        "ENST00000682215.1:n.1106C>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS827211"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1106,
          "referenceAllele": "C",
          "start": 1105
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000059",
      "geneNCBI_id": 6833,
      "geneSymbol": "ABCC8",
      "hgvs": [
        "ENST00000682288.1:c.1037C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000507506.1:p.Ser346Ter",
        "hgvsWellDefined": "ENSP00000507506.1:p.Ser347_Cys557delinsGlnGluPheLeuAlaAsnAlaTyrValLeuAlaValLeuLeuPheLeuAlaLeuLeuLeuGlnArgThrPheLeuGlnAlaSerTyrTyrValAlaIleGluThrGlyIleAsnLeuArgGlyAlaIleGlnThrLysIleTyrAsnLysIleMetHisLeuSerThrSerAsnLeuSerMetGlyGluMetThrAlaGlyGlnIleCysAsnLeuValAlaIleAspThrAsnGlnLeuMetTrpPhePhePheLeuCysProAsnLeuTrpAlaMetProValGlnIleIleValGlyValIleLeuLeuTyrTyrIleLeuGlyValSerAlaLeuIleGlyAlaAlaValIleIleLeuLeuAlaProValGlnTyrPheValAlaThrLysLeuSerGlnAlaGlnArgSerThrLeuGluTyrSerAsnGluArgLeuLysGlnThrAsnGluMetLeuArgGlyIleLysLeuLeuLysLeuTyrAlaTrpGluAsnIlePheArgThrArgValGluThrThrArgArgLysGluMetThrSerLeuArgAlaPheAlaIleTyrThrSerIleSerIlePheMetAsnThrAlaIleProIleAlaAlaValLeuIleCysTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS827283"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1140,
          "referenceAllele": "C",
          "start": 1139
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000059",
      "geneNCBI_id": 6833,
      "geneSymbol": "ABCC8",
      "hgvs": [
        "ENST00000682442.1:n.1140C>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS827432"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1106,
          "referenceAllele": "C",
          "start": 1105
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000059",
      "geneNCBI_id": 6833,
      "geneSymbol": "ABCC8",
      "hgvs": [
        "ENST00000682528.1:n.1106C>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS827518"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1053,
          "referenceAllele": "C",
          "start": 1052
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000059",
      "geneNCBI_id": 6833,
      "geneSymbol": "ABCC8",
      "hgvs": [
        "ENST00000682673.1:n.1053C>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS827662"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1106,
          "referenceAllele": "C",
          "start": 1105
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000059",
      "geneNCBI_id": 6833,
      "geneSymbol": "ABCC8",
      "hgvs": [
        "ENST00000682805.1:n.1106C>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS827794"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1106,
          "referenceAllele": "C",
          "start": 1105
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000059",
      "geneNCBI_id": 6833,
      "geneSymbol": "ABCC8",
      "hgvs": [
        "ENST00000682863.1:n.1106C>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS827851"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1106,
          "referenceAllele": "C",
          "start": 1105
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000059",
      "geneNCBI_id": 6833,
      "geneSymbol": "ABCC8",
      "hgvs": [
        "ENST00000682965.1:c.1037C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000508229.1:p.Ser346Ter",
        "hgvsWellDefined": "ENSP00000508229.1:p.Ser347_Gly1138delinsGlnGluPheLeuAlaAsnAlaTyrValLeuAlaValLeuLeuPheLeuAlaLeuLeuLeuGlnArgThrPheLeuGlnAlaSerTyrTyrValAlaIleGluThrGlyIleAsnLeuArgGlyAlaIleGlnThrLysIleTyrAsnLysIleMetHisLeuSerThrSerAsnLeuSerMetGlyGluMetThrAlaGlyGlnIleCysAsnLeuValAlaIleAspThrAsnGlnLeuMetTrpPhePhePheLeuCysProAsnLeuTrpAlaMetProValGlnIleIleValGlyValIleLeuLeuTyrTyrIleLeuGlyValSerAlaLeuIleGlyAlaAlaValIleIleLeuLeuAlaProValGlnTyrPheValAlaThrLysLeuSerGlnAlaGlnArgSerThrLeuGluTyrSerAsnGluArgLeuLysGlnThrAsnGluMetLeuArgGlyIleLysLeuLeuLysLeuTyrAlaTrpGluAsnIlePheArgThrArgValGluThrThrArgArgLysGluMetThrSerLeuArgAlaPheAlaIleTyrThrSerIleSerIlePheMetAsnThrAlaIleProIleAlaAlaValLeuIleThrPheValGlyHisValSerPhePheLysGluAlaAspPheSerProSerValAlaPheAlaSerLeuSerLeuPheHisIleLeuValThrProLeuPheLeuLeuSerSerValValArgSerThrValLysAlaLeuValSerValGlnLysLeuSerGluPheLeuSerSerAlaGluIleArgGluGluGlnCysAlaProHisGluProThrProGlnGlyProAlaSerLysTyrGlnAlaValProLeuArgValValAsnArgLysArgProAlaArgGluAspCysArgGlyLeuThrGlyProLeuGlnSerLeuValProSerAlaAspGlyAspAlaAspAsnCysCysValGlnIleMetGlyGlyTyrPheThrTrpThrProAspGlyIleProThrLeuSerAsnIleThrIleArgIleProArgGlyGlnLeuThrMetIleValGlyGlnValGlyCysGlyLysSerSerLeuLeuLeuAlaAlaLeuGlyGluMetGlnLysValSerGlyAlaValPheTrpSerSerLeuProAspSerGluIleGlyGluAspProSerProGluArgGluThrAlaThrAspLeuAspIleArgLysArgGlyProValAlaTyrAlaSerGlnLysProTrpLeuLeuAsnAlaThrValGluGluAsnIleIlePheGluSerProPheAsnLysGlnArgTyrLysMetValIleGluAlaCysSerLeuGlnProAspIleAspIleLeuProHisGlyAspGlnThrGlnIleGlyGluArgGlyIleAsnLeuSerGlyGlyGlnArgGlnArgIleSerValAlaArgAlaLeuTyrGlnHisAlaAsnValValPheLeuAspAspProPheSerAlaLeuAspIleHisLeuSerAspHisLeuMetGlnAlaGlyIleLeuGluLeuLeuArgAspAspLysArgThrValValLeuValThrHisLysLeuGlnTyrLeuProHisAlaAspTrpIleIleAlaMetLysAspGlyThrIleGlnArgGluGlyThrLeuLysAspPheGlnArgSerGluCysGlnLeuPheGluHisTrpLysThrLeuMetAsnArgGlnAspGlnGluLeuGluLysGluThrValThrGluArgLysAlaThrGluProProGlnGlyLeuSerArgAlaMetSerSerArgAspGlyLeuLeuGlnAspGluGluGluGluGluGluGluAlaAlaGluSerGluGluAspAspAsnLeuSerSerMetLeuHisGlnArgAlaGluIleProTrpArgAlaCysAlaLysTyrLeuSerSerAlaGlyIleLeuLeuLeuSerLeuLeuValPheSerGlnLeuLeuLysHisMetValLeuValAlaIleAspTyrTrpLeuAlaLysTrpThrAspSerAlaLeuThrLeuThrProAlaAlaArgAsnCysSerLeuSerGlnGluCysThrLeuAspGlnThrValTyrAlaMetValPheThrValLeuCysSerLeuGlyIleValLeuCysLeuValThrSerValThrValGluTrpThrGlyLeuLysValAlaLysArgLeuHisArgSerLeuLeuAsnArgIleIleLeuAlaProMetArgPhePheGluThrThrProLeuGlySerIleLeuAsnArgPheSerSerAspCysAsnThrIleAspGlnGlyProAlaAlaAlaGlyTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS827953"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1106,
          "referenceAllele": "C",
          "start": 1105
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000059",
      "geneNCBI_id": 6833,
      "geneSymbol": "ABCC8",
      "hgvs": [
        "ENST00000683093.1:n.1106C>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS828078"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1133,
          "referenceAllele": "C",
          "start": 1132
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000059",
      "geneNCBI_id": 6833,
      "geneSymbol": "ABCC8",
      "hgvs": [
        "ENST00000683136.1:c.1037C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000507768.1:p.Ser346Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS828121"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1106,
          "referenceAllele": "C",
          "start": 1105
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000059",
      "geneNCBI_id": 6833,
      "geneSymbol": "ABCC8",
      "hgvs": [
        "ENST00000683153.1:n.1106C>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS828138"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2020,
          "referenceAllele": "C",
          "start": 2019
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000059",
      "geneNCBI_id": 6833,
      "geneSymbol": "ABCC8",
      "hgvs": [
        "ENST00000683253.1:n.2020C>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS828235"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1106,
          "referenceAllele": "C",
          "start": 1105
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000059",
      "geneNCBI_id": 6833,
      "geneSymbol": "ABCC8",
      "hgvs": [
        "ENST00000683365.1:n.1106C>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS828345"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1106,
          "referenceAllele": "C",
          "start": 1105
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000059",
      "geneNCBI_id": 6833,
      "geneSymbol": "ABCC8",
      "hgvs": [
        "ENST00000683377.1:n.1106C>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS828356"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1115,
          "referenceAllele": "C",
          "start": 1114
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000059",
      "geneNCBI_id": 6833,
      "geneSymbol": "ABCC8",
      "hgvs": [
        "ENST00000683456.1:c.1037C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000508318.1:p.Ser346Ter",
        "hgvsWellDefined": "ENSP00000508318.1:p.Ser347_Pro980delinsGlnGluPheLeuAlaAsnAlaTyrValLeuAlaValLeuLeuPheLeuAlaLeuLeuLeuGlnArgThrPheLeuGlnAlaSerTyrTyrValAlaIleGluThrGlyIleAsnLeuArgGlyAlaIleGlnThrLysIleTyrAsnLysIleMetHisLeuSerThrSerAsnLeuSerMetGlyGluMetThrAlaGlyGlnIleCysAsnLeuValAlaIleAspThrAsnGlnLeuMetTrpPhePhePheLeuCysProAsnLeuTrpAlaMetProValGlnIleIleValGlyValIleLeuLeuTyrTyrIleLeuGlyValSerAlaLeuIleGlyAlaAlaValIleIleLeuLeuAlaProValGlnTyrPheValAlaThrLysLeuSerGlnAlaGlnArgSerThrLeuGluTyrSerAsnGluArgLeuLysGlnThrAsnGluMetLeuArgGlyIleLysLeuLeuLysLeuTyrAlaTrpGluAsnIlePheArgThrArgValGluThrThrArgArgLysGluMetThrSerLeuArgAlaPheAlaIleTyrThrSerIleSerIlePheMetAsnThrAlaIleProIleAlaAlaValLeuIleThrPheValGlyHisValSerPhePheLysGluAlaAspPheSerProSerValAlaPheAlaSerLeuSerLeuPheHisIleLeuValThrProLeuPheLeuLeuSerSerValValArgSerThrValLysAlaLeuValSerValGlnLysLeuSerGluPheLeuSerSerAlaGluIleArgGluGluGlnCysAlaProHisGluProThrProGlnGlyProAlaSerLysTyrGlnAlaValProLeuArgValValAsnArgLysArgProAlaArgGluAspCysArgGlyLeuThrGlyProLeuGlnSerLeuValProSerAlaAspGlyAspAlaAspAsnCysCysValGlnIleMetGlyGlyTyrPheThrTrpThrProAspGlyIleProThrLeuSerAsnIleThrIleArgIleProArgGlyGlnLeuThrMetIleValGlyGlnValGlyCysGlyLysSerSerLeuLeuLeuAlaAlaLeuGlyGluMetGlnLysValSerGlyAlaValPheTrpSerSerSerLeuProAspSerGluIleGlyGluAspProSerProGluArgGluThrAlaThrAspLeuAspIleArgLysArgGlyProValAlaTyrAlaSerGlnLysProTrpLeuLeuAsnAlaThrValGluGluAsnIleIlePheGluSerProPheAsnLysGlnArgTyrLysMetValIleGluAlaCysSerLeuGlnProAspIleAspIleLeuProHisGlyAspGlnThrGlnIleGlyGluArgGlyIleAsnLeuSerGlyGlyGlnArgGlnArgIleSerValAlaArgAlaLeuTyrGlnHisAlaAsnValValPheLeuAspAspProPheSerAlaLeuAspIleHisLeuSerAspHisLeuMetGlnAlaGlyIleLeuGluLeuLeuArgAspAspLysArgThrValValLeuValThrHisLysLeuGlnTyrLeuProHisAlaAspTrpIleIleAlaMetLysAspGlyThrIleGlnArgGluGlyThrLeuLysAspPheGlnArgSerGluCysGlnLeuPheGluHisTrpLysThrLeuMetAsnArgGlnAspGlnGluLeuGluLysGluThrValThrGluArgLysAlaThrGluProProGlnGlyLeuSerArgAlaMetSerSerArgAspGlyLeuLeuGlnAspGluGluGluGluGluValSerGlyAspLysMetProTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS828432"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1106,
          "referenceAllele": "C",
          "start": 1105
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000059",
      "geneNCBI_id": 6833,
      "geneSymbol": "ABCC8",
      "hgvs": [
        "ENST00000683522.1:n.1106C>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS828496"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1109,
          "referenceAllele": "C",
          "start": 1108
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000059",
      "geneNCBI_id": 6833,
      "geneSymbol": "ABCC8",
      "hgvs": [
        "ENST00000683531.1:n.1109C>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS828505"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1155,
          "referenceAllele": "C",
          "start": 1154
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000059",
      "geneNCBI_id": 6833,
      "geneSymbol": "ABCC8",
      "hgvs": [
        "ENST00000683562.1:c.1040C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000508265.1:p.Ser347Ter",
        "hgvsWellDefined": "ENSP00000508265.1:p.Ser348_Ser620delinsGlnGluPheLeuAlaAsnAlaTyrValLeuAlaValLeuLeuPheLeuAlaLeuLeuLeuGlnArgThrPheLeuGlnAlaSerTyrTyrValAlaIleGluThrGlyIleAsnLeuArgGlyAlaIleGlnThrLysIleTyrAsnLysIleMetHisLeuSerThrSerAsnLeuSerMetGlyGluMetThrAlaGlyGlnIleCysAsnLeuValAlaIleAspThrAsnGlnLeuMetTrpPhePhePheLeuCysProAsnLeuTrpAlaMetProValGlnIleIleValGlyValIleLeuLeuTyrTyrIleLeuGlyValSerAlaLeuIleGlyAlaAlaValIleIleLeuLeuAlaProValGlnTyrPheValAlaThrLysLeuSerGlnAlaGlnArgSerThrLeuGluTyrSerAsnGluArgLeuLysGlnThrAsnGluMetLeuArgGlyIleLysLeuLeuLysLeuTyrAlaTrpGluAsnIlePheArgThrArgValGluThrThrArgArgLysGluMetThrSerLeuArgAlaPheAlaIleTyrThrSerIleSerIlePheMetAsnThrAlaIleProIleAlaAlaValLeuIleThrPheValGlyHisValSerPhePheLysGluAlaAspPheSerProSerValAlaPheAlaSerLeuSerLeuPheHisIleLeuValThrProLeuPheLeuLeuSerSerValValArgSerThrValLysAlaLeuValArgGlyGluGlyCysLeuCysAlaSerArgAlaAlaCysLysSerTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS828535"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1106,
          "referenceAllele": "C",
          "start": 1105
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000059",
      "geneNCBI_id": 6833,
      "geneSymbol": "ABCC8",
      "hgvs": [
        "ENST00000683693.1:n.1106C>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS828664"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1065,
          "referenceAllele": "C",
          "start": 1064
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000059",
      "geneNCBI_id": 6833,
      "geneSymbol": "ABCC8",
      "hgvs": [
        "ENST00000683725.1:c.1040C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000507496.1:p.Ser347Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS828696"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 376,
          "referenceAllele": "C",
          "start": 375
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000059",
      "geneNCBI_id": 6833,
      "geneSymbol": "ABCC8",
      "hgvs": [
        "ENST00000683808.1:n.376C>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS828777"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1106,
          "referenceAllele": "C",
          "start": 1105
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000059",
      "geneNCBI_id": 6833,
      "geneSymbol": "ABCC8",
      "hgvs": [
        "ENST00000684010.1:n.1106C>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS828972"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1106,
          "referenceAllele": "C",
          "start": 1105
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000059",
      "geneNCBI_id": 6833,
      "geneSymbol": "ABCC8",
      "hgvs": [
        "ENST00000684157.1:n.1106C>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS829115"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1158,
          "referenceAllele": "C",
          "start": 1157
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000059",
      "geneNCBI_id": 6833,
      "geneSymbol": "ABCC8",
      "hgvs": [
        "ENST00000684253.1:n.1158C>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS829210"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1116,
          "referenceAllele": "C",
          "start": 1115
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000059",
      "geneNCBI_id": 6833,
      "geneSymbol": "ABCC8",
      "hgvs": [
        "ENST00000684288.1:c.1040C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000507143.1:p.Ser347Ter",
        "hgvsWellDefined": "ENSP00000507143.1:p.Ser348_Ser620delinsGlnGluPheLeuAlaAsnAlaTyrValLeuAlaValLeuLeuPheLeuAlaLeuLeuLeuGlnArgThrPheLeuGlnAlaSerTyrTyrValAlaIleGluThrGlyIleAsnLeuArgGlyAlaIleGlnThrLysIleTyrAsnLysIleMetHisLeuSerThrSerAsnLeuSerMetGlyGluMetThrAlaGlyGlnIleCysAsnLeuValAlaIleAspThrAsnGlnLeuMetTrpPhePhePheLeuCysProAsnLeuTrpAlaMetProValGlnIleIleValGlyValIleLeuLeuTyrTyrIleLeuGlyValSerAlaLeuIleGlyAlaAlaValIleIleLeuLeuAlaProValGlnTyrPheValAlaThrLysLeuSerGlnAlaGlnArgSerThrLeuGluTyrSerAsnGluArgLeuLysGlnThrAsnGluMetLeuArgGlyIleLysLeuLeuLysLeuTyrAlaTrpGluAsnIlePheArgThrArgValGluThrThrArgArgLysGluMetThrSerLeuArgAlaPheAlaIleTyrThrSerIleSerIlePheMetAsnThrAlaIleProIleAlaAlaValLeuIleThrPheValGlyHisValSerPhePheLysGluAlaAspPheSerProSerValAlaPheAlaSerLeuSerLeuPheHisIleLeuValThrProLeuPheLeuLeuSerSerValValArgSerThrValLysAlaLeuValArgGlyGluGlyCysLeuCysAlaSerArgAlaAlaCysLysSerTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS829244"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1133,
          "referenceAllele": "C",
          "start": 1132
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000059",
      "geneNCBI_id": 6833,
      "geneSymbol": "ABCC8",
      "hgvs": [
        "ENST00000684313.1:n.1133C>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS829269"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1106,
          "referenceAllele": "C",
          "start": 1105
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000059",
      "geneNCBI_id": 6833,
      "geneSymbol": "ABCC8",
      "hgvs": [
        "ENST00000684332.1:n.1106C>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS829287"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1053,
          "referenceAllele": "C",
          "start": 1052
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000059",
      "geneNCBI_id": 6833,
      "geneSymbol": "ABCC8",
      "hgvs": [
        "ENST00000684371.1:n.1053C>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS829326"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1106,
          "referenceAllele": "C",
          "start": 1105
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000059",
      "geneNCBI_id": 6833,
      "geneSymbol": "ABCC8",
      "hgvs": [
        "ENST00000684404.1:n.1106C>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS829359"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1106,
          "referenceAllele": "C",
          "start": 1105
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000059",
      "geneNCBI_id": 6833,
      "geneSymbol": "ABCC8",
      "hgvs": [
        "ENST00000684442.1:n.1106C>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS829396"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1108,
          "referenceAllele": "C",
          "start": 1107
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000059",
      "geneNCBI_id": 6833,
      "geneSymbol": "ABCC8",
      "hgvs": [
        "ENST00000684555.1:c.1040C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000507705.1:p.Ser347Ter",
        "hgvsWellDefined": "ENSP00000507705.1:p.Ser348_Gly558delinsGlnGluPheLeuAlaAsnAlaTyrValLeuAlaValLeuLeuPheLeuAlaLeuLeuLeuGlnArgThrPheLeuGlnAlaSerTyrTyrValAlaIleGluThrGlyIleAsnLeuArgGlyAlaIleGlnThrLysIleTyrAsnLysIleMetHisLeuSerThrSerAsnLeuSerMetGlyGluMetThrAlaGlyGlnIleCysAsnLeuValAlaIleAspThrAsnGlnLeuMetTrpPhePhePheLeuCysProAsnLeuTrpAlaMetProValGlnIleIleValGlyValIleLeuLeuTyrTyrIleLeuGlyValSerAlaLeuIleGlyAlaAlaValIleIleLeuLeuAlaProValGlnTyrPheValAlaThrLysLeuSerGlnAlaGlnArgSerThrLeuGluTyrSerAsnGluArgLeuLysGlnThrAsnGluMetLeuArgGlyIleLysLeuLeuLysLeuTyrAlaTrpGluAsnIlePheArgThrArgValGluThrThrArgArgLysGluMetThrSerLeuArgAlaPheAlaIleTyrThrSerIleSerIlePheMetAsnThrAlaIleProIleAlaAlaValLeuIleGlyTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS829508"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1078,
          "referenceAllele": "C",
          "start": 1077
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000059",
      "geneNCBI_id": 6833,
      "geneSymbol": "ABCC8",
      "hgvs": [
        "ENST00000684571.1:c.1037C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000506935.1:p.Ser346Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS829524"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 974,
          "referenceAllele": "C",
          "start": 973
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000059",
      "geneNCBI_id": 6833,
      "geneSymbol": "ABCC8",
      "hgvs": [
        "ENST00000684593.1:c.*745C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000507005.1:n.*745C>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS829545"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1106,
          "referenceAllele": "C",
          "start": 1105
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000059",
      "geneNCBI_id": 6833,
      "geneSymbol": "ABCC8",
      "hgvs": [
        "ENST00000684711.1:c.1037C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000506841.1:p.Ser346Ter",
        "hgvsWellDefined": "ENSP00000506841.1:p.Ser347_Cys557delinsGlnGluPheLeuAlaAsnAlaTyrValLeuAlaValLeuLeuPheLeuAlaLeuLeuLeuGlnArgThrPheLeuGlnAlaSerTyrTyrValAlaIleGluThrGlyIleAsnLeuArgGlyAlaIleGlnThrLysIleTyrAsnLysIleMetHisLeuSerThrSerAsnLeuSerMetGlyGluMetThrAlaGlyGlnIleCysAsnLeuValAlaIleAspThrAsnGlnLeuMetTrpPhePhePheLeuCysProAsnLeuTrpAlaMetProValGlnIleIleValGlyValIleLeuLeuTyrTyrIleLeuGlyValSerAlaLeuIleGlyAlaAlaValIleIleLeuLeuAlaProValGlnTyrPheValAlaThrLysLeuSerGlnAlaGlnArgSerThrLeuGluTyrSerAsnGluArgLeuLysGlnThrAsnGluMetLeuArgGlyIleLysLeuLeuLysLeuTyrAlaTrpGluAsnIlePheArgThrArgValGluThrThrArgArgLysGluMetThrSerLeuArgAlaPheAlaIleTyrThrSerIleSerIlePheMetAsnThrAlaIleProIleAlaAlaValLeuIleCysTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS829662"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1109,
          "referenceAllele": "C",
          "start": 1108
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000059",
      "geneNCBI_id": 6833,
      "geneSymbol": "ABCC8",
      "hgvs": [
        "ENST00000302539.9:c.1040C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000303960.4:p.Ser347Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS744957"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1109,
          "referenceAllele": "C",
          "start": 1108
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000059",
      "geneNCBI_id": 6833,
      "geneSymbol": "ABCC8",
      "hgvs": [
        "ENST00000389817.8:c.1040C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000374467.4:p.Ser347Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS752843",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000389817.8:c.1040C>G"
          },
          "RefSeq": {
            "hgvs": "NM_000352.6:c.1040C>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000374467.4:p.Ser347Ter"
          },
          "RefSeq": {
            "hgvs": "NP_000343.2:p.Ser347Ter"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 916,
          "referenceAllele": "C",
          "start": 915
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000059",
      "geneNCBI_id": 6833,
      "geneSymbol": "ABCC8",
      "hgvs": [
        "ENST00000532728.6:c.916C>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS759302"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1068,
          "referenceAllele": "C",
          "start": 1067
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000059",
      "geneNCBI_id": 6833,
      "geneSymbol": "ABCC8",
      "hgvs": [
        "ENST00000635881.1:n.1068C>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS762707"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1072,
          "referenceAllele": "C",
          "start": 1071
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000059",
      "geneNCBI_id": 6833,
      "geneSymbol": "ABCC8",
      "hgvs": [
        "ENST00000642271.1:c.1037C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000493749.1:p.Ser346Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS766651"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 991,
          "referenceAllele": "C",
          "start": 990
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000059",
      "geneNCBI_id": 6833,
      "geneSymbol": "ABCC8",
      "hgvs": [
        "ENST00000642611.1:n.991C>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS766837"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1021,
          "referenceAllele": "C",
          "start": 1020
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000059",
      "geneNCBI_id": 6833,
      "geneSymbol": "ABCC8",
      "hgvs": [
        "ENST00000642902.1:c.1021C>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS766980"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1106,
          "referenceAllele": "C",
          "start": 1105
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000059",
      "geneNCBI_id": 6833,
      "geneSymbol": "ABCC8",
      "hgvs": [
        "ENST00000643260.1:c.1037C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000494450.1:p.Ser346Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS767182"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1108,
          "referenceAllele": "C",
          "start": 1107
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000059",
      "geneNCBI_id": 6833,
      "geneSymbol": "ABCC8",
      "hgvs": [
        "ENST00000643562.1:c.1040C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000496124.1:p.Ser347Ter",
        "hgvsWellDefined": "ENSP00000496124.1:p.Ser348_Cys671delinsGlnGluPheLeuAlaAsnAlaTyrValLeuAlaValLeuLeuPheLeuAlaLeuLeuLeuGlnArgThrPheLeuGlnAlaSerTyrTyrValAlaIleGluThrGlyIleAsnLeuArgGlyAlaIleGlnThrLysIleTyrAsnLysIleMetHisLeuSerThrSerAsnLeuSerMetGlyGluMetThrAlaGlyGlnIleCysAsnLeuValAlaIleAspThrAsnGlnLeuMetTrpPhePhePheLeuCysProAsnLeuTrpAlaMetProValGlnIleIleValGlyValIleLeuLeuTyrTyrIleLeuGlyValSerAlaLeuIleGlyAlaAlaValIleIleLeuLeuAlaProValGlnTyrPheValAlaThrLysLeuSerGlnAlaGlnArgSerThrLeuGluTyrSerAsnGluArgLeuLysGlnThrAsnGluMetLeuArgGlyIleLysLeuLeuLysLeuTyrAlaTrpGluAsnIlePheArgThrArgValGluThrThrArgArgLysGluMetThrSerLeuArgAlaPheAlaIleTyrThrSerIleSerIlePheMetAsnThrAlaIleProIleAlaAlaValLeuIleThrPheValGlyHisValSerPhePheLysGluAlaAspPheSerProSerValAlaPheAlaSerLeuSerLeuPheHisIleLeuValThrProLeuPheLeuLeuSerSerValValArgSerThrValLysAlaLeuValSerValGlnLysLeuSerGluPheLeuSerSerAlaGluIleArgGluGluGlnCysAlaProHisGluProThrProGlnGlyProAlaSerLysTyrGlnAlaValGlyCysGluProGlnAlaSerSerProGlyGlyLeuSerGlyProHisArgProThrAlaGluProGlyProGlnCysArgTrpArgCysTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS767346"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1140,
          "referenceAllele": "C",
          "start": 1139
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000059",
      "geneNCBI_id": 6833,
      "geneSymbol": "ABCC8",
      "hgvs": [
        "ENST00000644472.1:c.1037C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000495378.1:p.Ser346Ter",
        "hgvsWellDefined": "ENSP00000495378.1:p.Ser347_Ser445delinsGlnGluPheLeuAlaAsnAlaTyrValLeuAlaValLeuLeuPheLeuAlaLeuLeuLeuGlnArgThrPheLeuGlnAlaSerTyrTyrValAlaIleGluThrGlyIleAsnLeuArgGlyAlaIleGlnThrLysIleTyrAsnLysIleMetHisLeuSerThrSerAsnLeuSerMetGlyGluMetThrAlaGlyGlnIleCysAsnLeuValAlaIleAspThrAsnGlnLeuMetTrpPhePhePheLeuCysProAsnLeuTrpAlaMetProValGlnPheSerTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS767832"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1106,
          "referenceAllele": "C",
          "start": 1105
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000059",
      "geneNCBI_id": 6833,
      "geneSymbol": "ABCC8",
      "hgvs": [
        "ENST00000644484.1:c.1037C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000493558.1:p.Ser346Ter",
        "hgvsWellDefined": "ENSP00000493558.1:p.Ser347_Gly557delinsGlnGluPheLeuAlaAsnAlaTyrValLeuAlaValLeuLeuPheLeuAlaLeuLeuLeuGlnArgThrPheLeuGlnAlaSerTyrTyrValAlaIleGluThrGlyIleAsnLeuArgGlyAlaIleGlnThrLysIleTyrAsnLysIleMetHisLeuSerThrSerAsnLeuSerMetGlyGluMetThrAlaGlyGlnIleCysAsnLeuValAlaIleAspThrAsnGlnLeuMetTrpPhePhePheLeuCysProAsnLeuTrpAlaMetProValGlnIleIleValGlyValIleLeuLeuTyrTyrIleLeuGlyValSerAlaLeuIleGlyAlaAlaValIleIleLeuLeuAlaProValGlnTyrPheValAlaThrLysLeuSerGlnAlaGlnArgSerThrLeuGluTyrSerAsnGluArgLeuLysGlnThrAsnGluMetLeuArgGlyIleLysLeuLeuLysLeuTyrAlaTrpGluAsnIlePheArgThrArgValGluThrThrArgArgLysGluMetThrSerLeuArgAlaPheAlaIleTyrThrSerIleSerIlePheMetAsnThrAlaIleProIleAlaAlaValLeuIleGlyTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS767838"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 960,
          "referenceAllele": "C",
          "start": 959
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000059",
      "geneNCBI_id": 6833,
      "geneSymbol": "ABCC8",
      "hgvs": [
        "ENST00000644542.1:c.*742C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000495532.1:n.*742C>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS767872"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 90,
          "referenceAllele": "C",
          "start": 89
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000059",
      "geneNCBI_id": 6833,
      "geneSymbol": "ABCC8",
      "hgvs": [
        "ENST00000644649.1:c.90C>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS767920"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1133,
          "referenceAllele": "C",
          "start": 1132
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000059",
      "geneNCBI_id": 6833,
      "geneSymbol": "ABCC8",
      "hgvs": [
        "ENST00000644675.1:c.1037C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000494567.1:p.Ser346Ter",
        "hgvsWellDefined": "ENSP00000494567.1:p.Ser347_Ser619delinsGlnGluPheLeuAlaAsnAlaTyrValLeuAlaValLeuLeuPheLeuAlaLeuLeuLeuGlnArgThrPheLeuGlnAlaSerTyrTyrValAlaIleGluThrGlyIleAsnLeuArgGlyAlaIleGlnThrLysIleTyrAsnLysIleMetHisLeuSerThrSerAsnLeuSerMetGlyGluMetThrAlaGlyGlnIleCysAsnLeuValAlaIleAspThrAsnGlnLeuMetTrpPhePhePheLeuCysProAsnLeuTrpAlaMetProValGlnIleIleValGlyValIleLeuLeuTyrTyrIleLeuGlyValSerAlaLeuIleGlyAlaAlaValIleIleLeuLeuAlaProValGlnTyrPheValAlaThrLysLeuSerGlnAlaGlnArgSerThrLeuGluTyrSerAsnGluArgLeuLysGlnThrAsnGluMetLeuArgGlyIleLysLeuLeuLysLeuTyrAlaTrpGluAsnIlePheArgThrArgValGluThrThrArgArgLysGluMetThrSerLeuArgAlaPheAlaIleTyrThrSerIleSerIlePheMetAsnThrAlaIleProIleAlaAlaValLeuIleThrPheValGlyHisValSerPhePheLysGluAlaAspPheSerProSerValAlaPheAlaSerLeuSerLeuPheHisIleLeuValThrProLeuPheLeuLeuSerSerValValArgSerThrValLysAlaLeuValArgGlyGluGlyCysLeuCysAlaSerArgAlaAlaCysLysSerTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS767931"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1121,
          "referenceAllele": "C",
          "start": 1120
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000059",
      "geneNCBI_id": 6833,
      "geneSymbol": "ABCC8",
      "hgvs": [
        "ENST00000644757.1:c.1040C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000495085.1:p.Ser347Ter",
        "hgvsWellDefined": "ENSP00000495085.1:p.Ser348_Val561delinsGlnGluPheLeuAlaAsnAlaTyrValLeuAlaValLeuLeuPheLeuAlaLeuLeuLeuGlnArgThrPheLeuGlnAlaSerTyrTyrValAlaIleGluThrGlyIleAsnLeuArgGlyAlaIleGlnThrLysIleTyrAsnLysIleMetHisLeuSerThrSerAsnLeuSerMetGlyGluMetThrAlaGlyGlnIleCysAsnLeuValAlaIleAspThrAsnGlnLeuMetTrpPhePhePheLeuCysProAsnLeuTrpAlaMetProValGlnIleIleValGlyValIleLeuLeuTyrTyrIleLeuGlyValSerAlaLeuIleGlyAlaAlaValIleIleLeuLeuAlaProValGlnTyrPheValAlaThrLysLeuSerGlnAlaGlnArgSerThrLeuGluTyrSerAsnGluArgLeuLysGlnThrAsnGluMetLeuArgGlyIleLysLeuLeuLysLeuTyrAlaTrpGluAsnIlePheArgThrArgValGluThrThrArgArgLysGluMetThrSerLeuArgAlaPheAlaIleTyrThrSerIleSerSerTrpProHisTrpThrAlaLeuProProSerHisProGlyHisLeuHisValTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS767980"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1071,
          "referenceAllele": "C",
          "start": 1070
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000059",
      "geneNCBI_id": 6833,
      "geneSymbol": "ABCC8",
      "hgvs": [
        "ENST00000644772.1:c.1040C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000494321.1:p.Ser347Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS767987"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 322,
          "referenceAllele": "C",
          "start": 321
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000059",
      "geneNCBI_id": 6833,
      "geneSymbol": "ABCC8",
      "hgvs": [
        "ENST00000645076.1:c.322C>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS768157"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1075,
          "endIntronDirection": "+",
          "endIntronOffset": 7233,
          "referenceAllele": "C",
          "start": 1075,
          "startIntronDirection": "+",
          "startIntronOffset": 7232
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000059",
      "geneNCBI_id": 6833,
      "geneSymbol": "ABCC8",
      "hgvs": [
        "ENST00000645744.1:c.1008+7233C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000494564.1:n.1008+7233C>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS768524"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1213,
          "referenceAllele": "C",
          "start": 1212
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000059",
      "geneNCBI_id": 6833,
      "geneSymbol": "ABCC8",
      "hgvs": [
        "ENST00000645760.1:c.1213C>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS768531"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1105,
          "referenceAllele": "C",
          "start": 1104
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000059",
      "geneNCBI_id": 6833,
      "geneSymbol": "ABCC8",
      "hgvs": [
        "ENST00000645884.1:c.1037C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000495516.1:p.Ser346Ter",
        "hgvsWellDefined": "ENSP00000495516.1:p.Ser347_Pro980delinsGlnGluPheLeuAlaAsnAlaTyrValLeuAlaValLeuLeuPheLeuAlaLeuLeuLeuGlnArgThrPheLeuGlnAlaSerTyrTyrValAlaIleGluThrGlyIleAsnLeuArgGlyAlaIleGlnThrLysIleTyrAsnLysIleMetHisLeuSerThrSerAsnLeuSerMetGlyGluMetThrAlaGlyGlnIleCysAsnLeuValAlaIleAspThrAsnGlnLeuMetTrpPhePhePheLeuCysProAsnLeuTrpAlaMetProValGlnIleIleValGlyValIleLeuLeuTyrTyrIleLeuGlyValSerAlaLeuIleGlyAlaAlaValIleIleLeuLeuAlaProValGlnTyrPheValAlaThrLysLeuSerGlnAlaGlnArgSerThrLeuGluTyrSerAsnGluArgLeuLysGlnThrAsnGluMetLeuArgGlyIleLysLeuLeuLysLeuTyrAlaTrpGluAsnIlePheArgThrArgValGluThrThrArgArgLysGluMetThrSerLeuArgAlaPheAlaIleTyrThrSerIleSerIlePheMetAsnThrAlaIleProIleAlaAlaValLeuIleThrPheValGlyHisValSerPhePheLysGluAlaAspPheSerProSerValAlaPheAlaSerLeuSerLeuPheHisIleLeuValThrProLeuPheLeuLeuSerSerValValArgSerThrValLysAlaLeuValSerValGlnLysLeuSerGluPheLeuSerSerAlaGluIleArgGluGluGlnCysAlaProHisGluProThrProGlnGlyProAlaSerLysTyrGlnAlaValProLeuArgValValAsnArgLysArgProAlaArgGluAspCysArgGlyLeuThrGlyProLeuGlnSerLeuValProSerAlaAspGlyAspAlaAspAsnCysCysValGlnIleMetGlyGlyTyrPheThrTrpThrProAspGlyIleProThrLeuSerAsnIleThrIleArgIleProArgGlyGlnLeuThrMetIleValGlyGlnValGlyCysGlyLysSerSerLeuLeuLeuAlaAlaLeuGlyGluMetGlnLysValSerGlyAlaValPheTrpSerSerSerLeuProAspSerGluIleGlyGluAspProSerProGluArgGluThrAlaThrAspLeuAspIleArgLysArgGlyProValAlaTyrAlaSerGlnLysProTrpLeuLeuAsnAlaThrValGluGluAsnIleIlePheGluSerProPheAsnLysGlnArgTyrLysMetValIleGluAlaCysSerLeuGlnProAspIleAspIleLeuProHisGlyAspGlnThrGlnIleGlyGluArgGlyIleAsnLeuSerGlyGlyGlnArgGlnArgIleSerValAlaArgAlaLeuTyrGlnHisAlaAsnValValPheLeuAspAspProPheSerAlaLeuAspIleHisLeuSerAspHisLeuMetGlnAlaGlyIleLeuGluLeuLeuArgAspAspLysArgThrValValLeuValThrHisLysLeuGlnTyrLeuProHisAlaAspTrpIleIleAlaMetLysAspGlyThrIleGlnArgGluGlyThrLeuLysAspPheGlnArgSerGluCysGlnLeuPheGluHisTrpLysThrLeuMetAsnArgGlnAspGlnGluLeuGluLysGluThrValThrGluArgLysAlaThrGluProProGlnGlyLeuSerArgAlaMetSerSerArgAspGlyLeuLeuGlnAspGluGluGluGluGluValSerGlyAspLysMetProTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS768584"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1106,
          "referenceAllele": "C",
          "start": 1105
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000059",
      "geneNCBI_id": 6833,
      "geneSymbol": "ABCC8",
      "hgvs": [
        "ENST00000646003.1:c.1037C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000495259.1:p.Ser346Ter",
        "hgvsWellDefined": "ENSP00000495259.1:p.Ser347_Pro570delinsGlnGluPheLeuAlaAsnAlaTyrValLeuAlaValLeuLeuPheLeuAlaLeuLeuLeuGlnArgThrPheLeuGlnAlaSerTyrTyrValAlaIleGluThrGlyIleAsnLeuArgGlyAlaIleGlnThrLysIleTyrAsnLysIleMetHisLeuSerThrSerAsnLeuSerMetGlyGluMetThrAlaGlyGlnIleCysAsnLeuValAlaIleAspThrAsnGlnLeuMetTrpPhePhePheLeuCysProAsnLeuTrpAlaMetProValGlnIleIleValGlyValIleLeuLeuTyrTyrIleLeuGlyValSerAlaLeuIleGlyAlaAlaValIleIleLeuLeuAlaProValGlnTyrPheValAlaThrLysLeuSerGlnAlaGlnArgSerThrLeuGluTyrSerAsnGluArgLeuLysGlnThrAsnGluMetLeuArgGlyIleLysLeuLeuLysLeuTyrAlaTrpGluAsnIlePheArgThrArgValGluThrThrArgArgLysGluMetThrSerLeuArgAlaPheAlaIleTyrThrSerIleSerIlePheMetAsnThrAlaIleProIleAlaAlaValLeuIleArgAlaLysAlaLysArgValProValGlnCysArgAspProTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS768646"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1045,
          "referenceAllele": "C",
          "start": 1044
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000059",
      "geneNCBI_id": 6833,
      "geneSymbol": "ABCC8",
      "hgvs": [
        "ENST00000646207.1:c.1037C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000495025.1:p.Ser346Ter",
        "hgvsWellDefined": "ENSP00000495025.1:p.Ser347_Ser490delinsGlnGluPheLeuAlaAsnAlaTyrValLeuAlaValLeuLeuPheLeuAlaLeuLeuLeuGlnArgThrPheLeuGlnAlaSerTyrTyrValAlaIleGluThrGlyIleAsnLeuArgGlyAlaIleGlnThrLysIleTyrAsnLysIleMetHisLeuSerThrSerAsnLeuSerMetGlyGluMetThrAlaGlyGlnIleCysAsnLeuValAlaIleAspThrAsnGlnLeuMetTrpPhePhePheLeuCysProAsnLeuTrpAlaMetProValGlnIleIleValGlyValIleLeuLeuTyrTyrIleLeuGlyValSerAlaLeuIleGlyAlaAlaValIleIleLeuLeuAlaProValGlnTyrPheValAlaThrLysLeuSerGlnAlaGlnArgSerThrLeuPheSerTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS768754"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1092,
          "referenceAllele": "C",
          "start": 1091
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000059",
      "geneNCBI_id": 6833,
      "geneSymbol": "ABCC8",
      "hgvs": [
        "ENST00000646276.1:c.1016C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000496070.1:p.Ser339Ter",
        "hgvsWellDefined": "ENSP00000496070.1:p.Ser340_Val553delinsGlnGluPheLeuAlaAsnAlaTyrValLeuAlaValLeuLeuPheLeuAlaLeuLeuLeuGlnArgThrPheLeuGlnAlaSerTyrTyrValAlaIleGluThrGlyIleAsnLeuArgGlyAlaIleGlnThrLysIleTyrAsnLysIleMetHisLeuSerThrSerAsnLeuSerMetGlyGluMetThrAlaGlyGlnIleCysAsnLeuValAlaIleAspThrAsnGlnLeuMetTrpPhePhePheLeuCysProAsnLeuTrpAlaMetProValGlnIleIleValGlyValIleLeuLeuTyrTyrIleLeuGlyValSerAlaLeuIleGlyAlaAlaValIleIleLeuLeuAlaProValGlnTyrPheValAlaThrLysLeuSerGlnAlaGlnArgSerThrLeuGluTyrSerAsnGluArgLeuLysGlnThrAsnGluMetLeuArgGlyIleLysLeuLeuLysLeuTyrAlaTrpGluAsnIlePheArgThrArgValGluThrThrArgArgLysGluMetThrSerLeuArgAlaPheAlaIleTyrThrSerIleSerSerTrpProHisTrpThrAlaLeuProProSerHisProGlyHisLeuHisValTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS768789"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 291,
          "referenceAllele": "C",
          "start": 290
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000059",
      "geneNCBI_id": 6833,
      "geneSymbol": "ABCC8",
      "hgvs": [
        "ENST00000646592.1:c.291C>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS768960"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1892,
          "referenceAllele": "C",
          "start": 1891
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000059",
      "geneNCBI_id": 6833,
      "geneSymbol": "ABCC8",
      "hgvs": [
        "ENST00000646737.1:c.*1134C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000494874.1:n.*1134C>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS769041"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1105,
          "referenceAllele": "C",
          "start": 1104
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000059",
      "geneNCBI_id": 6833,
      "geneSymbol": "ABCC8",
      "hgvs": [
        "ENST00000646902.1:c.1037C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000494101.1:p.Ser346Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS769127"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1098,
          "referenceAllele": "C",
          "start": 1097
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000059",
      "geneNCBI_id": 6833,
      "geneSymbol": "ABCC8",
      "hgvs": [
        "ENST00000646993.1:c.1040C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000493720.1:p.Ser347Ter",
        "hgvsWellDefined": "ENSP00000493720.1:p.Ser348_Cys558delinsGlnGluPheLeuAlaAsnAlaTyrValLeuAlaValLeuLeuPheLeuAlaLeuLeuLeuGlnArgThrPheLeuGlnAlaSerTyrTyrValAlaIleGluThrGlyIleAsnLeuArgGlyAlaIleGlnThrLysIleTyrAsnLysIleMetHisLeuSerThrSerAsnLeuSerMetGlyGluMetThrAlaGlyGlnIleCysAsnLeuValAlaIleAspThrAsnGlnLeuMetTrpPhePhePheLeuCysProAsnLeuTrpAlaMetProValGlnIleIleValGlyValIleLeuLeuTyrTyrIleLeuGlyValSerAlaLeuIleGlyAlaAlaValIleIleLeuLeuAlaProValGlnTyrPheValAlaThrLysLeuSerGlnAlaGlnArgSerThrLeuGluTyrSerAsnGluArgLeuLysGlnThrAsnGluMetLeuArgGlyIleLysLeuLeuLysLeuTyrAlaTrpGluAsnIlePheArgThrArgValGluThrThrArgArgLysGluMetThrSerLeuArgAlaPheAlaIleTyrThrSerIleSerIlePheMetAsnThrAlaIleProIleAlaAlaValLeuIleCysTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS769179"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 938,
          "referenceAllele": "C",
          "start": 937
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000059",
      "geneNCBI_id": 6833,
      "geneSymbol": "ABCC8",
      "hgvs": [
        "ENST00000647013.1:c.938C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000496741.1:p.Ser313Ter",
        "hgvsWellDefined": "ENSP00000496741.1:p.Ser314_Cys524delinsGlnGluPheLeuAlaAsnAlaTyrValLeuAlaValLeuLeuPheLeuAlaLeuLeuLeuGlnArgThrPheLeuGlnAlaSerTyrTyrValAlaIleGluThrGlyIleAsnLeuArgGlyAlaIleGlnThrLysIleTyrAsnLysIleMetHisLeuSerThrSerAsnLeuSerMetGlyGluMetThrAlaGlyGlnIleCysAsnLeuValAlaIleAspThrAsnGlnLeuMetTrpPhePhePheLeuCysProAsnLeuTrpAlaMetProValGlnIleIleValGlyValIleLeuLeuTyrTyrIleLeuGlyValSerAlaLeuIleGlyAlaAlaValIleIleLeuLeuAlaProValGlnTyrPheValAlaThrLysLeuSerGlnAlaGlnArgSerThrLeuGluTyrSerAsnGluArgLeuLysGlnThrAsnGluMetLeuArgGlyIleLysLeuLeuLysLeuTyrAlaTrpGluAsnIlePheArgThrArgValGluThrThrArgArgLysGluMetThrSerLeuArgAlaPheAlaIleTyrThrSerIleSerIlePheMetAsnThrAlaIleProIleAlaAlaValLeuIleCysTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS769189"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1108,
          "referenceAllele": "C",
          "start": 1107
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000059",
      "geneNCBI_id": 6833,
      "geneSymbol": "ABCC8",
      "hgvs": [
        "ENST00000647015.1:c.1040C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000495389.1:p.Ser347Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS769191"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1100,
          "referenceAllele": "C",
          "start": 1099
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000059",
      "geneNCBI_id": 6833,
      "geneSymbol": "ABCC8",
      "hgvs": [
        "ENST00000647086.1:c.1037C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000493677.1:p.Ser346Ter",
        "hgvsWellDefined": "ENSP00000493677.1:p.Ser347_Glu693delinsGlnGluPheLeuAlaAsnAlaTyrValLeuAlaValLeuLeuPheLeuAlaLeuLeuLeuGlnArgThrPheLeuGlnAlaSerTyrTyrValAlaIleGluThrGlyIleAsnLeuArgGlyAlaIleGlnThrLysIleTyrAsnLysIleMetHisLeuSerThrSerAsnLeuSerMetGlyGluMetThrAlaGlyGlnIleCysAsnLeuValAlaIleAspThrAsnGlnLeuMetTrpPhePhePheLeuCysProAsnLeuTrpAlaMetProValGlnIleIleValGlyValIleLeuLeuTyrTyrIleLeuGlyValSerAlaLeuIleGlyAlaAlaValIleIleLeuLeuAlaProValGlnTyrPheValAlaThrLysLeuSerGlnAlaGlnArgSerThrLeuGluTyrSerAsnGluArgLeuLysGlnThrAsnGluMetLeuArgGlyIleLysLeuLeuLysLeuTyrAlaTrpGluAsnIlePheArgThrArgValGluThrThrArgArgLysGluMetThrSerLeuArgAlaPheAlaIleTyrThrSerIleSerIlePheMetAsnThrAlaIleProIleAlaAlaValLeuIleThrPheValGlyHisValSerPhePheLysGluAlaAspPheSerProSerValAlaPheAlaSerLeuSerLeuPheHisIleLeuValThrProLeuPheLeuLeuSerSerValValArgSerThrValLysAlaLeuValArgAlaThrLysAsnGluAlaIleProSerProArgGlyCysProMetAspIleArgArgHisProLeuCysLeuSerPheProGlyGlnValSerProThrLeuSerThrAlaProGluProSerGlnProGlnProValLysGlnLeuProProSerAlaGlySerCysSerAspTrpProThrAlaLeuGlyGlySerHisPheGlnAlaLeuGluProHisGlyAspSerAlaThrValProGluAlaLeuProSerTrpGluTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS769226"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1133,
          "referenceAllele": "C",
          "start": 1132
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000059",
      "geneNCBI_id": 6833,
      "geneSymbol": "ABCC8",
      "hgvs": [
        "ENST00000647158.1:c.1037C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000495744.1:p.Ser346Ter",
        "hgvsWellDefined": "ENSP00000495744.1:p.Ser347_Pro570delinsGlnGluPheLeuAlaAsnAlaTyrValLeuAlaValLeuLeuPheLeuAlaLeuLeuLeuGlnArgThrPheLeuGlnAlaSerTyrTyrValAlaIleGluThrGlyIleAsnLeuArgGlyAlaIleGlnThrLysIleTyrAsnLysIleMetHisLeuSerThrSerAsnLeuSerMetGlyGluMetThrAlaGlyGlnIleCysAsnLeuValAlaIleAspThrAsnGlnLeuMetTrpPhePhePheLeuCysProAsnLeuTrpAlaMetProValGlnIleIleValGlyValIleLeuLeuTyrTyrIleLeuGlyValSerAlaLeuIleGlyAlaAlaValIleIleLeuLeuAlaProValGlnTyrPheValAlaThrLysLeuSerGlnAlaGlnArgSerThrLeuGluTyrSerAsnGluArgLeuLysGlnThrAsnGluMetLeuArgGlyIleLysLeuLeuLysLeuTyrAlaTrpGluAsnIlePheArgThrArgValGluThrThrArgArgLysGluMetThrSerLeuArgAlaPheAlaIleTyrThrSerIleSerIlePheMetAsnThrAlaIleProIleAlaAlaValLeuIleArgAlaLysAlaLysArgValProValGlnCysArgAspProTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS769267"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1109,
          "referenceAllele": "C",
          "start": 1108
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000059",
      "geneNCBI_id": 6833,
      "geneSymbol": "ABCC8",
      "hgvs": [
        "ENST00000302539.8:c.1040C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000303960.4:p.Ser347Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS255198"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1109,
          "referenceAllele": "C",
          "start": 1108
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000059",
      "geneNCBI_id": 6833,
      "geneSymbol": "ABCC8",
      "hgvs": [
        "ENST00000389817.7:c.1040C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000374467.3:p.Ser347Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS274297"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1083,
          "referenceAllele": "C",
          "start": 1082
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000059",
      "geneNCBI_id": 6833,
      "geneSymbol": "ABCC8",
      "hgvs": [
        "ENST00000527905.5:c.1040C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000431653.1:p.Ser347Ter",
        "hgvsWellDefined": "ENSP00000431653.1:p.Ser348_Pro997delinsGlnGluPheLeuAlaAsnAlaTyrValLeuAlaValLeuLeuPheLeuAlaLeuLeuLeuGlnArgThrPheLeuGlnAlaSerTyrTyrValAlaIleGluThrGlyIleAsnLeuArgGlyAlaIleGlnThrLysIleTyrAsnLysIleMetHisLeuSerThrSerAsnLeuSerMetGlyGluMetThrAlaGlyGlnIleCysAsnLeuValAlaIleAspThrAsnGlnLeuMetTrpPhePhePheLeuCysProAsnLeuTrpAlaMetProValGlnIleIleValGlyValIleLeuLeuTyrTyrIleLeuGlyValSerAlaLeuIleGlyAlaAlaValIleIleLeuLeuAlaProValGlnTyrPheValAlaThrLysLeuSerGlnAlaGlnArgSerThrLeuGluTyrSerAsnGluArgLeuLysGlnThrAsnGluMetLeuArgGlyIleLysLeuLeuLysLeuTyrAlaTrpGluAsnIlePheArgThrArgValGluThrThrArgArgLysGluMetThrSerLeuArgAlaPheAlaIleTyrThrSerIleSerIlePheMetAsnThrAlaIleProIleAlaAlaValLeuIleThrPheValGlyHisValSerPhePheLysGluAlaAspPheSerProSerValAlaPheAlaSerLeuSerLeuPheHisIleLeuValThrProLeuPheLeuLeuSerSerValValArgSerThrValLysAlaLeuValSerAlaGluIleArgGluGluGlnCysAlaProHisGluProThrProGlnGlyProAlaSerLysTyrGlnAlaValProLeuArgValValAsnArgLysArgProAlaArgGluAspCysArgGlyLeuThrGlyProLeuGlnSerLeuValProSerAlaAspGlyAspAlaAspAsnCysCysValGlnIleMetGlyGlyTyrPheThrTrpThrProAspGlyIleProThrLeuSerAsnIleThrIleArgIleProArgGlyGlnLeuThrMetIleValGlyGlnValGlyCysGlyLysSerSerLeuLeuLeuAlaAlaLeuGlyGluMetGlnLysValSerGlyAlaValPheTrpSerSerLeuProAspSerGluIleGlyGluAspProSerProGluArgGluThrAlaThrAspLeuAspIleArgLysArgGlyProValAlaTyrAlaSerGlnLysProTrpLeuLeuAsnAlaThrValGluGluAsnIleIlePheGluSerProPheAsnLysGlnArgTyrLysMetValIleGluAlaCysSerLeuGlnProAspIleAspIleLeuProHisGlyAspGlnThrGlnIleGlyGluArgGlyIleAsnLeuSerGlyGlyGlnArgGlnArgIleSerValAlaArgAlaLeuTyrGlnHisAlaAsnValValPheLeuAspAspProPheSerAlaLeuAspIleHisLeuSerAspHisLeuMetGlnAlaGlyIleLeuGluLeuLeuArgAspAspLysArgThrValValLeuValThrHisLysLeuGlnTyrLeuProHisAlaAspTrpIleIleAlaMetLysAspGlyThrIleGlnArgGluGlyThrLeuLysAspPheGlnArgSerGluCysGlnLeuPheGluHisTrpLysThrLeuMetAsnArgGlnAspGlnGluLeuGluLysArgArgGlnLeuArgAlaArgArgMetThrThrCysArgProCysCysThrSerValLeuArgSerHisGlyGluProAlaProSerThrCysProProProAlaSerCysSerCysArgCysTrpSerSerHisSerCysSerSerThrTrpSerTrpTrpProSerThrThrGlyTrpProSerGlyProThrAlaProTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS353525"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1071,
          "referenceAllele": "C",
          "start": 1070
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000059",
      "geneNCBI_id": 6833,
      "geneSymbol": "ABCC8",
      "hgvs": [
        "ENST00000532728.5:n.1071C>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS357611"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1109,
          "referenceAllele": "C",
          "start": 1108
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000059",
      "geneNCBI_id": 6833,
      "geneSymbol": "ABCC8",
      "hgvs": [
        "NM_000352.4:c.1040C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_000343.2:p.Ser347Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006415"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1109,
          "referenceAllele": "C",
          "start": 1108
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000059",
      "geneNCBI_id": 6833,
      "geneSymbol": "ABCC8",
      "hgvs": [
        "NM_001287174.1:c.1040C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001274103.1:p.Ser347Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS023254"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1100,
          "referenceAllele": "C",
          "start": 1099
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000059",
      "geneNCBI_id": 6833,
      "geneSymbol": "ABCC8",
      "hgvs": [
        "XM_011520331.1:c.1037C>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011518633.1:p.Ser346Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS087499"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1103,
          "referenceAllele": "C",
          "start": 1102
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000059",
      "geneNCBI_id": 6833,
      "geneSymbol": "ABCC8",
      "hgvs": [
        "XM_011520332.1:c.1040C>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011518634.1:p.Ser347Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS087500"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1103,
          "referenceAllele": "C",
          "start": 1102
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000059",
      "geneNCBI_id": 6833,
      "geneSymbol": "ABCC8",
      "hgvs": [
        "XM_011520334.1:c.1040C>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011518636.1:p.Ser347Ter",
        "hgvsWellDefined": "XP_011518636.1:p.Ser348_Pro981delinsGlnGluPheLeuAlaAsnAlaTyrValLeuAlaValLeuLeuPheLeuAlaLeuLeuLeuGlnArgThrPheLeuGlnAlaSerTyrTyrValAlaIleGluThrGlyIleAsnLeuArgGlyAlaIleGlnThrLysIleTyrAsnLysIleMetHisLeuSerThrSerAsnLeuSerMetGlyGluMetThrAlaGlyGlnIleCysAsnLeuValAlaIleAspThrAsnGlnLeuMetTrpPhePhePheLeuCysProAsnLeuTrpAlaMetProValGlnIleIleValGlyValIleLeuLeuTyrTyrIleLeuGlyValSerAlaLeuIleGlyAlaAlaValIleIleLeuLeuAlaProValGlnTyrPheValAlaThrLysLeuSerGlnAlaGlnArgSerThrLeuGluTyrSerAsnGluArgLeuLysGlnThrAsnGluMetLeuArgGlyIleLysLeuLeuLysLeuTyrAlaTrpGluAsnIlePheArgThrArgValGluThrThrArgArgLysGluMetThrSerLeuArgAlaPheAlaIleTyrThrSerIleSerIlePheMetAsnThrAlaIleProIleAlaAlaValLeuIleThrPheValGlyHisValSerPhePheLysGluAlaAspPheSerProSerValAlaPheAlaSerLeuSerLeuPheHisIleLeuValThrProLeuPheLeuLeuSerSerValValArgSerThrValLysAlaLeuValSerValGlnLysLeuSerGluPheLeuSerSerAlaGluIleArgGluGluGlnCysAlaProHisGluProThrProGlnGlyProAlaSerLysTyrGlnAlaValProLeuArgValValAsnArgLysArgProAlaArgGluAspCysArgGlyLeuThrGlyProLeuGlnSerLeuValProSerAlaAspGlyAspAlaAspAsnCysCysValGlnIleMetGlyGlyTyrPheThrTrpThrProAspGlyIleProThrLeuSerAsnIleThrIleArgIleProArgGlyGlnLeuThrMetIleValGlyGlnValGlyCysGlyLysSerSerLeuLeuLeuAlaAlaLeuGlyGluMetGlnLysValSerGlyAlaValPheTrpSerSerSerLeuProAspSerGluIleGlyGluAspProSerProGluArgGluThrAlaThrAspLeuAspIleArgLysArgGlyProValAlaTyrAlaSerGlnLysProTrpLeuLeuAsnAlaThrValGluGluAsnIleIlePheGluSerProPheAsnLysGlnArgTyrLysMetValIleGluAlaCysSerLeuGlnProAspIleAspIleLeuProHisGlyAspGlnThrGlnIleGlyGluArgGlyIleAsnLeuSerGlyGlyGlnArgGlnArgIleSerValAlaArgAlaLeuTyrGlnHisAlaAsnValValPheLeuAspAspProPheSerAlaLeuAspIleHisLeuSerAspHisLeuMetGlnAlaGlyIleLeuGluLeuLeuArgAspAspLysArgThrValValLeuValThrHisLysLeuGlnTyrLeuProHisAlaAspTrpIleIleAlaMetLysAspGlyThrIleGlnArgGluGlyThrLeuLysAspPheGlnArgSerGluCysGlnLeuPheGluHisTrpLysThrLeuMetAsnArgGlnAspGlnGluLeuGluLysGluThrValThrGluArgLysAlaThrGluProProGlnGlyLeuSerArgAlaMetSerSerArgAspGlyLeuLeuGlnAspGluGluGluGluGluValSerGlyAspLysMetProTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS087502"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1103,
          "referenceAllele": "C",
          "start": 1102
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000059",
      "geneNCBI_id": 6833,
      "geneSymbol": "ABCC8",
      "hgvs": [
        "XR_930890.1:n.1103C>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS127017"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1103,
          "referenceAllele": "C",
          "start": 1102
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000059",
      "geneNCBI_id": 6833,
      "geneSymbol": "ABCC8",
      "hgvs": [
        "XR_930891.1:n.1103C>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS127018"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1103,
          "referenceAllele": "C",
          "start": 1102
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000059",
      "geneNCBI_id": 6833,
      "geneSymbol": "ABCC8",
      "hgvs": [
        "XR_930892.1:n.1103C>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS127019"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1103,
          "referenceAllele": "C",
          "start": 1102
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000059",
      "geneNCBI_id": 6833,
      "geneSymbol": "ABCC8",
      "hgvs": [
        "XR_930893.1:n.1103C>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS127020"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1109,
          "referenceAllele": "C",
          "start": 1108
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000059",
      "geneNCBI_id": 6833,
      "geneSymbol": "ABCC8",
      "hgvs": [
        "NM_001351295.1:c.1040C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001338224.1:p.Ser347Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS520088"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1106,
          "referenceAllele": "C",
          "start": 1105
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000059",
      "geneNCBI_id": 6833,
      "geneSymbol": "ABCC8",
      "hgvs": [
        "NM_001351296.1:c.1037C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001338225.1:p.Ser346Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS520089"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1106,
          "referenceAllele": "C",
          "start": 1105
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000059",
      "geneNCBI_id": 6833,
      "geneSymbol": "ABCC8",
      "hgvs": [
        "NM_001351297.1:c.1037C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001338226.1:p.Ser346Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS520090"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1106,
          "referenceAllele": "C",
          "start": 1105
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000059",
      "geneNCBI_id": 6833,
      "geneSymbol": "ABCC8",
      "hgvs": [
        "NR_147094.1:n.1106C>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS530635"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1112,
          "referenceAllele": "C",
          "start": 1111
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000059",
      "geneNCBI_id": 6833,
      "geneSymbol": "ABCC8",
      "hgvs": [
        "XM_017018197.2:c.1040C>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_016873686.1:p.Ser347Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS570195"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1108,
          "referenceAllele": "C",
          "start": 1107
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000059",
      "geneNCBI_id": 6833,
      "geneSymbol": "ABCC8",
      "hgvs": [
        "XM_017018199.1:c.1037C>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_016873688.1:p.Ser346Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS570196"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1112,
          "referenceAllele": "C",
          "start": 1111
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000059",
      "geneNCBI_id": 6833,
      "geneSymbol": "ABCC8",
      "hgvs": [
        "XM_017018201.2:c.1040C>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_016873690.1:p.Ser347Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS570197"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 890,
          "referenceAllele": "C",
          "start": 889
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000059",
      "geneNCBI_id": 6833,
      "geneSymbol": "ABCC8",
      "hgvs": [
        "XM_017018202.1:c.-478C>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_016873691.1:n.-478C>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS570198"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 12,
          "referenceAllele": "C",
          "start": 11
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000059",
      "geneNCBI_id": 6833,
      "geneSymbol": "ABCC8",
      "hgvs": [
        "XM_017018204.1:c.-1077C>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_016873693.1:n.-1077C>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS570199"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2019,
          "referenceAllele": "C",
          "start": 2018
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000059",
      "geneNCBI_id": 6833,
      "geneSymbol": "ABCC8",
      "hgvs": [
        "XM_024448668.1:c.-698C>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_024304436.1:n.-698C>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS582236"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1112,
          "referenceAllele": "C",
          "start": 1111
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000059",
      "geneNCBI_id": 6833,
      "geneSymbol": "ABCC8",
      "hgvs": [
        "XR_001747945.2:n.1112C>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS596022"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1112,
          "referenceAllele": "C",
          "start": 1111
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000059",
      "geneNCBI_id": 6833,
      "geneSymbol": "ABCC8",
      "hgvs": [
        "XR_001747946.2:n.1112C>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS596023"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1112,
          "referenceAllele": "C",
          "start": 1111
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000059",
      "geneNCBI_id": 6833,
      "geneSymbol": "ABCC8",
      "hgvs": [
        "XR_002957189.1:n.1112C>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS603325"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1109,
          "referenceAllele": "C",
          "start": 1108
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000059",
      "geneNCBI_id": 6833,
      "geneSymbol": "ABCC8",
      "hgvs": [
        "NM_000352.6:c.1040C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_000343.2:p.Ser347Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS674803",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000389817.8:c.1040C>G"
          },
          "RefSeq": {
            "hgvs": "NM_000352.6:c.1040C>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000374467.4:p.Ser347Ter"
          },
          "RefSeq": {
            "hgvs": "NP_000343.2:p.Ser347Ter"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1109,
          "referenceAllele": "C",
          "start": 1108
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000059",
      "geneNCBI_id": 6833,
      "geneSymbol": "ABCC8",
      "hgvs": [
        "NM_001287174.2:c.1040C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001274103.1:p.Ser347Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS682368"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1109,
          "referenceAllele": "C",
          "start": 1108
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000059",
      "geneNCBI_id": 6833,
      "geneSymbol": "ABCC8",
      "hgvs": [
        "NM_001351295.2:c.1040C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001338224.1:p.Ser347Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS688742"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1106,
          "referenceAllele": "C",
          "start": 1105
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000059",
      "geneNCBI_id": 6833,
      "geneSymbol": "ABCC8",
      "hgvs": [
        "NM_001351296.2:c.1037C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001338225.1:p.Ser346Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS688743"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1106,
          "referenceAllele": "C",
          "start": 1105
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000059",
      "geneNCBI_id": 6833,
      "geneSymbol": "ABCC8",
      "hgvs": [
        "NM_001351297.2:c.1037C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001338226.1:p.Ser346Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS688744"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1106,
          "referenceAllele": "C",
          "start": 1105
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000059",
      "geneNCBI_id": 6833,
      "geneSymbol": "ABCC8",
      "hgvs": [
        "NR_147094.2:n.1106C>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS704497"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1109,
          "referenceAllele": "C",
          "start": 1108
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000059",
      "geneNCBI_id": 6833,
      "geneSymbol": "ABCC8",
      "hgvs": [
        "NM_001287174.3:c.1040C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001274103.1:p.Ser347Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS716342"
    }
  ],
  "type": "nucleotide"
}