{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA16041442",
  "communityStandardTitle": [
    "NM_000352.6(ABCC8):c.3574del (p.Asp1192MetfsTer16)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=357940[alleleid]",
        "alleleId": 357940,
        "preferredName": "NM_000352.6(ABCC8):c.3574del (p.Asp1192fs)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/370210",
        "RCV": [
          "RCV000410895",
          "RCV000589995",
          "RCV001042320",
          "RCV002504200",
          "RCV003470324"
        ],
        "variationId": 370210
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr11:g.17424284del?assembly=hg19",
        "id": "chr11:g.17424284del"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr11:g.17402737del?assembly=hg38",
        "id": "chr11:g.17402737del"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/1057516317",
        "rs": 1057516317
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/11-17402736-TC-T?dataset=gnomad_r3",
        "id": "11-17402736-TC-T",
        "variant": "11:17402736 TC / T"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/11-17402736-TC-T?dataset=gnomad_r4",
        "id": "11-17402736-TC-T",
        "variant": "11:17402736 TC / T"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "11",
      "coordinates": [
        {
          "allele": "",
          "end": 17402738,
          "referenceAllele": "C",
          "start": 17402737
        }
      ],
      "hgvs": [
        "NC_000011.10:g.17402738del",
        "CM000673.2:g.17402738del"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000059"
    },
    {
      "chromosome": "11",
      "coordinates": [
        {
          "allele": "",
          "end": 17424285,
          "referenceAllele": "C",
          "start": 17424284
        }
      ],
      "hgvs": [
        "NC_000011.9:g.17424285del",
        "CM000673.1:g.17424285del"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000035"
    },
    {
      "chromosome": "11",
      "coordinates": [
        {
          "allele": "",
          "end": 17380861,
          "referenceAllele": "C",
          "start": 17380860
        }
      ],
      "hgvs": [
        "NC_000011.8:g.17380861del"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000011"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 79166,
          "referenceAllele": "G",
          "start": 79165
        }
      ],
      "hgvs": [
        "NG_008867.1:g.79166del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001262"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "",
          "end": 3143,
          "referenceAllele": "G",
          "start": 3142
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000059",
      "geneNCBI_id": 6833,
      "geneSymbol": "ABCC8",
      "hgvs": [
        "ENST00000524561.2:n.3143del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS825694"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 153,
          "referenceAllele": "G",
          "start": 152
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000059",
      "geneNCBI_id": 6833,
      "geneSymbol": "ABCC8",
      "hgvs": [
        "ENST00000528374.2:c.153del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS825751"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1913,
          "referenceAllele": "G",
          "start": 1912
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000059",
      "geneNCBI_id": 6833,
      "geneSymbol": "ABCC8",
      "hgvs": [
        "ENST00000529967.6:n.1913del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS825780"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1306,
          "referenceAllele": "G",
          "start": 1305
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000059",
      "geneNCBI_id": 6833,
      "geneSymbol": "ABCC8",
      "hgvs": [
        "ENST00000532220.2:n.1306del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS825814"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 3643,
          "referenceAllele": "G",
          "start": 3642
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000059",
      "geneNCBI_id": 6833,
      "geneSymbol": "ABCC8",
      "hgvs": [
        "ENST00000642611.2:n.3643del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS826721"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 17,
          "referenceAllele": "G",
          "start": 16
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000059",
      "geneNCBI_id": 6833,
      "geneSymbol": "ABCC8",
      "hgvs": [
        "ENST00000644057.2:n.17del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS826728"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1073,
          "referenceAllele": "G",
          "start": 1072
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000059",
      "geneNCBI_id": 6833,
      "geneSymbol": "ABCC8",
      "hgvs": [
        "ENST00000645004.2:n.1073del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS826739"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 3590,
          "referenceAllele": "G",
          "start": 3589
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000059",
      "geneNCBI_id": 6833,
      "geneSymbol": "ABCC8",
      "hgvs": [
        "ENST00000682051.1:n.3590del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS827049"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 3643,
          "referenceAllele": "G",
          "start": 3642
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000059",
      "geneNCBI_id": 6833,
      "geneSymbol": "ABCC8",
      "hgvs": [
        "ENST00000682110.1:n.3643del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS827107"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 3640,
          "referenceAllele": "G",
          "start": 3639
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000059",
      "geneNCBI_id": 6833,
      "geneSymbol": "ABCC8",
      "hgvs": [
        "ENST00000682140.1:c.3571del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000507829.1:p.Asp1191MetfsTer16",
        "hgvsWellDefined": "ENSP00000507829.1:p.[Asp1191_Asp1192delinsMet;Thr1194_Leu1196delinsPro;Leu1198_Ser1200delinsSerPhe;Ala1203_Glu1204delinsSerHis;Val1206_Gly1208del;Thr1210_Arg1220delinsProLysPro]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS827137"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 4879,
          "referenceAllele": "G",
          "start": 4878
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000059",
      "geneNCBI_id": 6833,
      "geneSymbol": "ABCC8",
      "hgvs": [
        "ENST00000682185.1:n.4879del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS827182"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 3494,
          "referenceAllele": "G",
          "start": 3493
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000059",
      "geneNCBI_id": 6833,
      "geneSymbol": "ABCC8",
      "hgvs": [
        "ENST00000682204.1:c.*1712del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000507094.1:n.*1712del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS827200"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 3640,
          "referenceAllele": "G",
          "start": 3639
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000059",
      "geneNCBI_id": 6833,
      "geneSymbol": "ABCC8",
      "hgvs": [
        "ENST00000682215.1:n.3640del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS827211"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 3748,
          "referenceAllele": "G",
          "start": 3747
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000059",
      "geneNCBI_id": 6833,
      "geneSymbol": "ABCC8",
      "hgvs": [
        "ENST00000682288.1:c.*2005del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000507506.1:n.*2005del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS827283"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 3863,
          "referenceAllele": "G",
          "start": 3862
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000059",
      "geneNCBI_id": 6833,
      "geneSymbol": "ABCC8",
      "hgvs": [
        "ENST00000682442.1:n.3863del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS827432"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 3720,
          "referenceAllele": "G",
          "start": 3719
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000059",
      "geneNCBI_id": 6833,
      "geneSymbol": "ABCC8",
      "hgvs": [
        "ENST00000682528.1:n.3720del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS827518"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 3587,
          "referenceAllele": "G",
          "start": 3586
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000059",
      "geneNCBI_id": 6833,
      "geneSymbol": "ABCC8",
      "hgvs": [
        "ENST00000682673.1:n.3587del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS827662"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 3640,
          "referenceAllele": "G",
          "start": 3639
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000059",
      "geneNCBI_id": 6833,
      "geneSymbol": "ABCC8",
      "hgvs": [
        "ENST00000682805.1:n.3640del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS827794"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 3482,
          "referenceAllele": "G",
          "start": 3481
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000059",
      "geneNCBI_id": 6833,
      "geneSymbol": "ABCC8",
      "hgvs": [
        "ENST00000682965.1:c.3413del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000508229.1:p.Gly1138AspfsTer?",
        "hgvsWellDefined": "ENSP00000508229.1:p.[Ala1137_Gly1138insAspAspThrThrGlnLeuProLeuLeuSerHisPheAlaGluThrValGlu;Gly1138_Ter1139insLeuThrThrIleArgAlaPheArgTyrGluAlaArg]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS827953"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 3742,
          "referenceAllele": "G",
          "start": 3741
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000059",
      "geneNCBI_id": 6833,
      "geneSymbol": "ABCC8",
      "hgvs": [
        "ENST00000683093.1:n.3742del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS828078"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 3667,
          "referenceAllele": "G",
          "start": 3666
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000059",
      "geneNCBI_id": 6833,
      "geneSymbol": "ABCC8",
      "hgvs": [
        "ENST00000683136.1:c.3571del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000507768.1:p.Asp1191MetfsTer16",
        "hgvsWellDefined": "ENSP00000507768.1:p.[Asp1191_Asp1192delinsMet;Thr1194_Leu1196delinsPro;Leu1198_Ser1200delinsSerPhe;Ala1203_Glu1204delinsSerHis;Val1206_Gly1208del;Thr1210_Arg1220delinsProLysPro]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS828121"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 3799,
          "referenceAllele": "G",
          "start": 3798
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000059",
      "geneNCBI_id": 6833,
      "geneSymbol": "ABCC8",
      "hgvs": [
        "ENST00000683153.1:n.3799del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS828138"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 3745,
          "referenceAllele": "G",
          "start": 3744
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000059",
      "geneNCBI_id": 6833,
      "geneSymbol": "ABCC8",
      "hgvs": [
        "ENST00000683365.1:n.3745del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS828345"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 3643,
          "referenceAllele": "G",
          "start": 3642
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000059",
      "geneNCBI_id": 6833,
      "geneSymbol": "ABCC8",
      "hgvs": [
        "ENST00000683377.1:n.3643del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS828356"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 3732,
          "referenceAllele": "G",
          "start": 3731
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000059",
      "geneNCBI_id": 6833,
      "geneSymbol": "ABCC8",
      "hgvs": [
        "ENST00000683456.1:c.*711del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000508318.1:n.*711del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS828432"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 3643,
          "referenceAllele": "G",
          "start": 3642
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000059",
      "geneNCBI_id": 6833,
      "geneSymbol": "ABCC8",
      "hgvs": [
        "ENST00000683522.1:n.3643del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS828496"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 3721,
          "referenceAllele": "G",
          "start": 3720
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000059",
      "geneNCBI_id": 6833,
      "geneSymbol": "ABCC8",
      "hgvs": [
        "ENST00000683562.1:c.*1743del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000508265.1:n.*1743del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS828535"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 3720,
          "referenceAllele": "G",
          "start": 3719
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000059",
      "geneNCBI_id": 6833,
      "geneSymbol": "ABCC8",
      "hgvs": [
        "ENST00000683693.1:n.3720del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS828664"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 3599,
          "referenceAllele": "G",
          "start": 3598
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000059",
      "geneNCBI_id": 6833,
      "geneSymbol": "ABCC8",
      "hgvs": [
        "ENST00000683725.1:c.3574del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000507496.1:p.Asp1192MetfsTer16",
        "hgvsWellDefined": "ENSP00000507496.1:p.[Asp1192_Asp1193delinsMet;Thr1195_Leu1197delinsPro;Leu1199_Ser1201delinsSerPhe;Ala1204_Glu1205delinsSerHis;Val1207_Gly1209del;Thr1211_Arg1221delinsProLysPro]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS828696"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 3638,
          "referenceAllele": "G",
          "start": 3637
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000059",
      "geneNCBI_id": 6833,
      "geneSymbol": "ABCC8",
      "hgvs": [
        "ENST00000684010.1:n.3638del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS828972"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 3643,
          "referenceAllele": "G",
          "start": 3642
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000059",
      "geneNCBI_id": 6833,
      "geneSymbol": "ABCC8",
      "hgvs": [
        "ENST00000684157.1:n.3643del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS829115"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 3546,
          "referenceAllele": "G",
          "start": 3545
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000059",
      "geneNCBI_id": 6833,
      "geneSymbol": "ABCC8",
      "hgvs": [
        "ENST00000684253.1:n.3546del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS829210"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 3685,
          "referenceAllele": "G",
          "start": 3684
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000059",
      "geneNCBI_id": 6833,
      "geneSymbol": "ABCC8",
      "hgvs": [
        "ENST00000684288.1:c.*1746del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000507143.1:n.*1746del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS829244"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 3075,
          "referenceAllele": "G",
          "start": 3074
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000059",
      "geneNCBI_id": 6833,
      "geneSymbol": "ABCC8",
      "hgvs": [
        "ENST00000684313.1:n.3075del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS829269"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 3716,
          "referenceAllele": "G",
          "start": 3715
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000059",
      "geneNCBI_id": 6833,
      "geneSymbol": "ABCC8",
      "hgvs": [
        "ENST00000684332.1:n.3716del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS829287"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 3749,
          "referenceAllele": "G",
          "start": 3748
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000059",
      "geneNCBI_id": 6833,
      "geneSymbol": "ABCC8",
      "hgvs": [
        "ENST00000684371.1:n.3749del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS829326"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 3686,
          "referenceAllele": "G",
          "start": 3685
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000059",
      "geneNCBI_id": 6833,
      "geneSymbol": "ABCC8",
      "hgvs": [
        "ENST00000684404.1:n.3686del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS829359"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 3643,
          "referenceAllele": "G",
          "start": 3642
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000059",
      "geneNCBI_id": 6833,
      "geneSymbol": "ABCC8",
      "hgvs": [
        "ENST00000684442.1:n.3643del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS829396"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 3531,
          "referenceAllele": "G",
          "start": 3530
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000059",
      "geneNCBI_id": 6833,
      "geneSymbol": "ABCC8",
      "hgvs": [
        "ENST00000684555.1:c.*1786del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000507705.1:n.*1786del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS829508"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 3456,
          "referenceAllele": "G",
          "start": 3455
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000059",
      "geneNCBI_id": 6833,
      "geneSymbol": "ABCC8",
      "hgvs": [
        "ENST00000684571.1:c.3415del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000506935.1:p.Asp1139MetfsTer16",
        "hgvsWellDefined": "ENSP00000506935.1:p.[Asp1139_Asp1140delinsMet;Thr1142_Leu1144delinsPro;Leu1146_Ser1148delinsSerPhe;Ala1151_Glu1152delinsSerHis;Val1154_Gly1156del;Thr1158_Arg1168delinsProLysPro]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS829524"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 3508,
          "referenceAllele": "G",
          "start": 3507
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000059",
      "geneNCBI_id": 6833,
      "geneSymbol": "ABCC8",
      "hgvs": [
        "ENST00000684593.1:c.*3279del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000507005.1:n.*3279del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS829545"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 3713,
          "referenceAllele": "G",
          "start": 3712
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000059",
      "geneNCBI_id": 6833,
      "geneSymbol": "ABCC8",
      "hgvs": [
        "ENST00000684711.1:c.*1970del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000506841.1:n.*1970del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS829662"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 3646,
          "referenceAllele": "G",
          "start": 3645
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000059",
      "geneNCBI_id": 6833,
      "geneSymbol": "ABCC8",
      "hgvs": [
        "ENST00000302539.9:c.3577del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000303960.4:p.Asp1193MetfsTer16",
        "hgvsWellDefined": "ENSP00000303960.4:p.[Asp1193_Asp1194delinsMet;Thr1196_Leu1198delinsPro;Leu1200_Ser1202delinsSerPhe;Ala1205_Glu1206delinsSerHis;Val1208_Gly1210del;Thr1212_Arg1222delinsProLysPro]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS744957"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 3643,
          "referenceAllele": "G",
          "start": 3642
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000059",
      "geneNCBI_id": 6833,
      "geneSymbol": "ABCC8",
      "hgvs": [
        "ENST00000389817.8:c.3574del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000374467.4:p.Asp1192MetfsTer16",
        "hgvsWellDefined": "ENSP00000374467.4:p.[Asp1192_Asp1193delinsMet;Thr1195_Leu1197delinsPro;Leu1199_Ser1201delinsSerPhe;Ala1204_Glu1205delinsSerHis;Val1207_Gly1209del;Thr1211_Arg1221delinsProLysPro]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS752843",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000389817.8:c.3574del"
          },
          "RefSeq": {
            "hgvs": "NM_000352.6:c.3574del"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000374467.4:p.Asp1192MetfsTer16"
          },
          "RefSeq": {
            "hgvs": "NP_000343.2:p.Asp1192MetfsTer16"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 3606,
          "referenceAllele": "G",
          "start": 3605
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000059",
      "geneNCBI_id": 6833,
      "geneSymbol": "ABCC8",
      "hgvs": [
        "ENST00000642271.1:c.3571del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000493749.1:p.Asp1191MetfsTer16",
        "hgvsWellDefined": "ENSP00000493749.1:p.[Asp1191_Asp1192delinsMet;Thr1194_Leu1196delinsPro;Leu1198_Ser1200delinsSerPhe;Ala1203_Glu1204delinsSerHis;Val1206_Gly1208del;Thr1210_Arg1220delinsProLysPro]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS766651"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1658,
          "referenceAllele": "G",
          "start": 1657
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000059",
      "geneNCBI_id": 6833,
      "geneSymbol": "ABCC8",
      "hgvs": [
        "ENST00000642579.1:c.1658del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS766821"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 3528,
          "referenceAllele": "G",
          "start": 3527
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000059",
      "geneNCBI_id": 6833,
      "geneSymbol": "ABCC8",
      "hgvs": [
        "ENST00000642611.1:n.3528del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS766837"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 3356,
          "referenceAllele": "G",
          "start": 3355
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000059",
      "geneNCBI_id": 6833,
      "geneSymbol": "ABCC8",
      "hgvs": [
        "ENST00000642902.1:c.3356del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS766980"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 3643,
          "referenceAllele": "G",
          "start": 3642
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000059",
      "geneNCBI_id": 6833,
      "geneSymbol": "ABCC8",
      "hgvs": [
        "ENST00000643260.1:c.3574del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000494450.1:p.Asp1192MetfsTer16",
        "hgvsWellDefined": "ENSP00000494450.1:p.[Asp1192_Asp1193delinsMet;Thr1195_Leu1197delinsPro;Leu1199_Ser1201delinsSerPhe;Ala1204_Glu1205delinsSerHis;Val1207_Gly1209del;Thr1211_Arg1221delinsProLysPro]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS767182"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 3634,
          "referenceAllele": "G",
          "start": 3633
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000059",
      "geneNCBI_id": 6833,
      "geneSymbol": "ABCC8",
      "hgvs": [
        "ENST00000643562.1:c.*1550del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000496124.1:n.*1550del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS767346"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1698,
          "referenceAllele": "G",
          "start": 1697
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000059",
      "geneNCBI_id": 6833,
      "geneSymbol": "ABCC8",
      "hgvs": [
        "ENST00000643925.1:c.1698del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS767546"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1930,
          "referenceAllele": "G",
          "start": 1929
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000059",
      "geneNCBI_id": 6833,
      "geneSymbol": "ABCC8",
      "hgvs": [
        "ENST00000644447.1:c.1930del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000496282.1:p.Asp644MetfsTer16",
        "hgvsWellDefined": "ENSP00000496282.1:p.[Asp644_Asp645delinsMet;Thr647_Leu649delinsPro;Leu651_Ser653delinsSerPhe;Ala656_Glu657delinsSerHis;Val659_Gly661del;Thr663_Ile672delinsProLys]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS767818"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 3572,
          "referenceAllele": "G",
          "start": 3571
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000059",
      "geneNCBI_id": 6833,
      "geneSymbol": "ABCC8",
      "hgvs": [
        "ENST00000644484.1:c.*1829del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000493558.1:n.*1829del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS767838"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 3702,
          "referenceAllele": "G",
          "start": 3701
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000059",
      "geneNCBI_id": 6833,
      "geneSymbol": "ABCC8",
      "hgvs": [
        "ENST00000644675.1:c.*1746del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000494567.1:n.*1746del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS767931"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 3626,
          "referenceAllele": "G",
          "start": 3625
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000059",
      "geneNCBI_id": 6833,
      "geneSymbol": "ABCC8",
      "hgvs": [
        "ENST00000644757.1:c.*1859del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000495085.1:n.*1859del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS767980"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 3671,
          "referenceAllele": "G",
          "start": 3670
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000059",
      "geneNCBI_id": 6833,
      "geneSymbol": "ABCC8",
      "hgvs": [
        "ENST00000644772.1:c.3640del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000494321.1:p.Asp1214MetfsTer16",
        "hgvsWellDefined": "ENSP00000494321.1:p.[Asp1214_Asp1215delinsMet;Thr1217_Leu1219delinsPro;Leu1221_Ser1223delinsSerPhe;Ala1226_Glu1227delinsSerHis;Val1229_Gly1231del;Thr1233_Arg1243delinsProLysPro]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS767987"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 713,
          "referenceAllele": "G",
          "start": 712
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000059",
      "geneNCBI_id": 6833,
      "geneSymbol": "ABCC8",
      "hgvs": [
        "ENST00000645004.1:n.713del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS768115"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 2773,
          "referenceAllele": "G",
          "start": 2772
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000059",
      "geneNCBI_id": 6833,
      "geneSymbol": "ABCC8",
      "hgvs": [
        "ENST00000645076.1:c.2773del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS768157"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 740,
          "referenceAllele": "G",
          "start": 739
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000059",
      "geneNCBI_id": 6833,
      "geneSymbol": "ABCC8",
      "hgvs": [
        "ENST00000645417.1:c.740del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS768340"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 2922,
          "referenceAllele": "G",
          "start": 2921
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000059",
      "geneNCBI_id": 6833,
      "geneSymbol": "ABCC8",
      "hgvs": [
        "ENST00000645744.1:c.*1838del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000494564.1:n.*1838del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS768524"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 3849,
          "referenceAllele": "G",
          "start": 3848
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000059",
      "geneNCBI_id": 6833,
      "geneSymbol": "ABCC8",
      "hgvs": [
        "ENST00000645760.1:c.3849del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS768531"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 3722,
          "referenceAllele": "G",
          "start": 3721
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000059",
      "geneNCBI_id": 6833,
      "geneSymbol": "ABCC8",
      "hgvs": [
        "ENST00000645884.1:c.*711del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000495516.1:n.*711del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS768584"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 3312,
          "referenceAllele": "G",
          "start": 3311
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000059",
      "geneNCBI_id": 6833,
      "geneSymbol": "ABCC8",
      "hgvs": [
        "ENST00000646003.1:c.*1530del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000495259.1:n.*1530del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS768646"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 3522,
          "referenceAllele": "G",
          "start": 3521
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000059",
      "geneNCBI_id": 6833,
      "geneSymbol": "ABCC8",
      "hgvs": [
        "ENST00000646207.1:c.*2041del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000495025.1:n.*2041del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS768754"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 3585,
          "referenceAllele": "G",
          "start": 3584
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000059",
      "geneNCBI_id": 6833,
      "geneSymbol": "ABCC8",
      "hgvs": [
        "ENST00000646276.1:c.*1847del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000496070.1:n.*1847del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS768789"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 2880,
          "referenceAllele": "G",
          "start": 2879
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000059",
      "geneNCBI_id": 6833,
      "geneSymbol": "ABCC8",
      "hgvs": [
        "ENST00000646592.1:c.2880del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS768960"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 3639,
          "referenceAllele": "G",
          "start": 3638
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000059",
      "geneNCBI_id": 6833,
      "geneSymbol": "ABCC8",
      "hgvs": [
        "ENST00000646902.1:c.3571del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000494101.1:p.Asp1191MetfsTer16",
        "hgvsWellDefined": "ENSP00000494101.1:p.[Asp1191_Asp1192delinsMet;Thr1194_Leu1196delinsPro;Leu1198_Ser1200delinsSerPhe;Ala1203_Glu1204delinsSerHis;Val1206_Gly1208del;Thr1210_Arg1220delinsProLysPro]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS769127"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 3705,
          "referenceAllele": "G",
          "start": 3704
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000059",
      "geneNCBI_id": 6833,
      "geneSymbol": "ABCC8",
      "hgvs": [
        "ENST00000646993.1:c.*1970del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000493720.1:n.*1970del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS769179"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 3580,
          "referenceAllele": "G",
          "start": 3579
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000059",
      "geneNCBI_id": 6833,
      "geneSymbol": "ABCC8",
      "hgvs": [
        "ENST00000647013.1:c.3580del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000496741.1:n.3580del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS769189"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 3393,
          "referenceAllele": "G",
          "start": 3392
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000059",
      "geneNCBI_id": 6833,
      "geneSymbol": "ABCC8",
      "hgvs": [
        "ENST00000647015.1:c.3325del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000495389.1:p.Asp1109MetfsTer16",
        "hgvsWellDefined": "ENSP00000495389.1:p.[Asp1109_Asp1110delinsMet;Thr1112_Leu1114delinsPro;Leu1116_Ser1118delinsSerPhe;Ala1121_Glu1122delinsSerHis;Val1124_Gly1126del;Thr1128_Arg1138delinsProLysPro]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS769191"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 5449,
          "referenceAllele": "G",
          "start": 5448
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000059",
      "geneNCBI_id": 6833,
      "geneSymbol": "ABCC8",
      "hgvs": [
        "ENST00000647086.1:c.*3304del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000493677.1:n.*3304del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS769226"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 3524,
          "referenceAllele": "G",
          "start": 3523
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000059",
      "geneNCBI_id": 6833,
      "geneSymbol": "ABCC8",
      "hgvs": [
        "ENST00000647158.1:c.*1715del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000495744.1:n.*1715del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS769267"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 3646,
          "referenceAllele": "G",
          "start": 3645
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000059",
      "geneNCBI_id": 6833,
      "geneSymbol": "ABCC8",
      "hgvs": [
        "ENST00000302539.8:c.3577del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000303960.4:p.Asp1193MetfsTer16",
        "hgvsWellDefined": "ENSP00000303960.4:p.[Asp1193_Asp1194delinsMet;Thr1196_Leu1198delinsPro;Leu1200_Ser1202delinsSerPhe;Ala1205_Glu1206delinsSerHis;Val1208_Gly1210del;Thr1212_Arg1222delinsProLysPro]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS255198"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 3643,
          "referenceAllele": "G",
          "start": 3642
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000059",
      "geneNCBI_id": 6833,
      "geneSymbol": "ABCC8",
      "hgvs": [
        "ENST00000389817.7:c.3574del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000374467.3:p.Asp1192MetfsTer16",
        "hgvsWellDefined": "ENSP00000374467.3:p.[Asp1192_Asp1193delinsMet;Thr1195_Leu1197delinsPro;Leu1199_Ser1201delinsSerPhe;Ala1204_Glu1205delinsSerHis;Val1207_Gly1209del;Thr1211_Arg1221delinsProLysPro]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS274297"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 706,
          "referenceAllele": "G",
          "start": 705
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000059",
      "geneNCBI_id": 6833,
      "geneSymbol": "ABCC8",
      "hgvs": [
        "ENST00000524561.1:n.706del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS350700"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 3487,
          "referenceAllele": "G",
          "start": 3486
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000059",
      "geneNCBI_id": 6833,
      "geneSymbol": "ABCC8",
      "hgvs": [
        "ENST00000527905.5:c.*450del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000431653.1:n.*450del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS353525"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 44,
          "referenceAllele": "G",
          "start": 43
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000059",
      "geneNCBI_id": 6833,
      "geneSymbol": "ABCC8",
      "hgvs": [
        "ENST00000528374.1:c.44del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS353923"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 67,
          "referenceAllele": "G",
          "start": 66
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000059",
      "geneNCBI_id": 6833,
      "geneSymbol": "ABCC8",
      "hgvs": [
        "ENST00000531137.1:n.67del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS356281"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 3643,
          "referenceAllele": "G",
          "start": 3642
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000059",
      "geneNCBI_id": 6833,
      "geneSymbol": "ABCC8",
      "hgvs": [
        "NM_000352.4:c.3574del"
      ],
      "proteinEffect": {
        "hgvs": "NP_000343.2:p.Asp1192MetfsTer16",
        "hgvsWellDefined": "NP_000343.2:p.[Asp1192_Asp1193delinsMet;Thr1195_Leu1197delinsPro;Leu1199_Ser1201delinsSerPhe;Ala1204_Glu1205delinsSerHis;Val1207_Gly1209del;Thr1211_Arg1221delinsProLysPro]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006415"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 3646,
          "referenceAllele": "G",
          "start": 3645
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000059",
      "geneNCBI_id": 6833,
      "geneSymbol": "ABCC8",
      "hgvs": [
        "NM_001287174.1:c.3577del"
      ],
      "proteinEffect": {
        "hgvs": "NP_001274103.1:p.Asp1193MetfsTer16",
        "hgvsWellDefined": "NP_001274103.1:p.[Asp1193_Asp1194delinsMet;Thr1196_Leu1198delinsPro;Leu1200_Ser1202delinsSerPhe;Ala1205_Glu1206delinsSerHis;Val1208_Gly1210del;Thr1212_Arg1222delinsProLysPro]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS023254"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 3637,
          "referenceAllele": "G",
          "start": 3636
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000059",
      "geneNCBI_id": 6833,
      "geneSymbol": "ABCC8",
      "hgvs": [
        "XM_011520331.1:c.3574del"
      ],
      "proteinEffect": {
        "hgvs": "XP_011518633.1:p.Asp1192MetfsTer16",
        "hgvsWellDefined": "XP_011518633.1:p.[Asp1192_Asp1193delinsMet;Thr1195_Leu1197delinsPro;Leu1199_Ser1201delinsSerPhe;Ala1204_Glu1205delinsSerHis;Val1207_Gly1209del;Thr1211_Arg1221delinsProLysPro]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS087499"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 3640,
          "referenceAllele": "G",
          "start": 3639
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000059",
      "geneNCBI_id": 6833,
      "geneSymbol": "ABCC8",
      "hgvs": [
        "XM_011520332.1:c.3577del"
      ],
      "proteinEffect": {
        "hgvs": "XP_011518634.1:p.Asp1193MetfsTer16",
        "hgvsWellDefined": "XP_011518634.1:p.[Asp1193_Asp1194delinsMet;Thr1196_Leu1198delinsPro;Leu1200_Ser1202delinsSerPhe;Ala1205_Glu1206delinsSerHis;Val1208_Gly1210del;Thr1212_Arg1222delinsProLysPro]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS087500"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 2196,
          "referenceAllele": "G",
          "start": 2195
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000059",
      "geneNCBI_id": 6833,
      "geneSymbol": "ABCC8",
      "hgvs": [
        "XM_011520333.1:c.2074del"
      ],
      "proteinEffect": {
        "hgvs": "XP_011518635.1:p.Asp692MetfsTer16",
        "hgvsWellDefined": "XP_011518635.1:p.[Asp692_Asp693delinsMet;Thr695_Leu697delinsPro;Leu699_Ser701delinsSerPhe;Ala704_Glu705delinsSerHis;Val707_Gly709del;Thr711_Arg721delinsProLysPro]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS087501"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 3640,
          "referenceAllele": "G",
          "start": 3639
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000059",
      "geneNCBI_id": 6833,
      "geneSymbol": "ABCC8",
      "hgvs": [
        "XR_930890.1:n.3640del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS127017"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 3540,
          "referenceAllele": "G",
          "start": 3539
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000059",
      "geneNCBI_id": 6833,
      "geneSymbol": "ABCC8",
      "hgvs": [
        "XR_930892.1:n.3540del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS127019"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 3537,
          "referenceAllele": "G",
          "start": 3536
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000059",
      "geneNCBI_id": 6833,
      "geneSymbol": "ABCC8",
      "hgvs": [
        "XR_930893.1:n.3537del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS127020"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 3709,
          "referenceAllele": "G",
          "start": 3708
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000059",
      "geneNCBI_id": 6833,
      "geneSymbol": "ABCC8",
      "hgvs": [
        "NM_001351295.1:c.3640del"
      ],
      "proteinEffect": {
        "hgvs": "NP_001338224.1:p.Asp1214MetfsTer16",
        "hgvsWellDefined": "NP_001338224.1:p.[Asp1214_Asp1215delinsMet;Thr1217_Leu1219delinsPro;Leu1221_Ser1223delinsSerPhe;Ala1226_Glu1227delinsSerHis;Val1229_Gly1231del;Thr1233_Arg1243delinsProLysPro]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS520088"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 3643,
          "referenceAllele": "G",
          "start": 3642
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000059",
      "geneNCBI_id": 6833,
      "geneSymbol": "ABCC8",
      "hgvs": [
        "NM_001351296.1:c.3574del"
      ],
      "proteinEffect": {
        "hgvs": "NP_001338225.1:p.Asp1192MetfsTer16",
        "hgvsWellDefined": "NP_001338225.1:p.[Asp1192_Asp1193delinsMet;Thr1195_Leu1197delinsPro;Leu1199_Ser1201delinsSerPhe;Ala1204_Glu1205delinsSerHis;Val1207_Gly1209del;Thr1211_Arg1221delinsProLysPro]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS520089"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 3640,
          "referenceAllele": "G",
          "start": 3639
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000059",
      "geneNCBI_id": 6833,
      "geneSymbol": "ABCC8",
      "hgvs": [
        "NM_001351297.1:c.3571del"
      ],
      "proteinEffect": {
        "hgvs": "NP_001338226.1:p.Asp1191MetfsTer16",
        "hgvsWellDefined": "NP_001338226.1:p.[Asp1191_Asp1192delinsMet;Thr1194_Leu1196delinsPro;Leu1198_Ser1200delinsSerPhe;Ala1203_Glu1204delinsSerHis;Val1206_Gly1208del;Thr1210_Arg1220delinsProLysPro]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS520090"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 3723,
          "referenceAllele": "G",
          "start": 3722
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000059",
      "geneNCBI_id": 6833,
      "geneSymbol": "ABCC8",
      "hgvs": [
        "NR_147094.1:n.3723del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS530635"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 3715,
          "referenceAllele": "G",
          "start": 3714
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000059",
      "geneNCBI_id": 6833,
      "geneSymbol": "ABCC8",
      "hgvs": [
        "XM_017018197.2:c.3643del"
      ],
      "proteinEffect": {
        "hgvs": "XP_016873686.1:p.Asp1215MetfsTer16",
        "hgvsWellDefined": "XP_016873686.1:p.[Asp1215_Asp1216delinsMet;Thr1218_Leu1220delinsPro;Leu1222_Ser1224delinsSerPhe;Ala1227_Glu1228delinsSerHis;Val1230_Gly1232del;Thr1234_Arg1244delinsProLysPro]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS570195"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 3711,
          "referenceAllele": "G",
          "start": 3710
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000059",
      "geneNCBI_id": 6833,
      "geneSymbol": "ABCC8",
      "hgvs": [
        "XM_017018199.1:c.3640del"
      ],
      "proteinEffect": {
        "hgvs": "XP_016873688.1:p.Asp1214MetfsTer16",
        "hgvsWellDefined": "XP_016873688.1:p.[Asp1214_Asp1215delinsMet;Thr1217_Leu1219delinsPro;Leu1221_Ser1223delinsSerPhe;Ala1226_Glu1227delinsSerHis;Val1229_Gly1231del;Thr1233_Arg1243delinsProLysPro]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS570196"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 3715,
          "referenceAllele": "G",
          "start": 3714
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000059",
      "geneNCBI_id": 6833,
      "geneSymbol": "ABCC8",
      "hgvs": [
        "XM_017018201.2:c.3643del"
      ],
      "proteinEffect": {
        "hgvs": "XP_016873690.1:p.Asp1215MetfsTer16",
        "hgvsWellDefined": "XP_016873690.1:p.[Asp1215_Asp1216delinsMet;Thr1218_Leu1220delinsPro;Leu1222_Ser1224delinsSerPhe;Ala1227_Glu1228delinsSerHis;Val1230_Gly1232del;Thr1234_Arg1244delinsProLysPro]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS570197"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 3507,
          "referenceAllele": "G",
          "start": 3506
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000059",
      "geneNCBI_id": 6833,
      "geneSymbol": "ABCC8",
      "hgvs": [
        "XM_017018202.1:c.2140del"
      ],
      "proteinEffect": {
        "hgvs": "XP_016873691.1:p.Asp714MetfsTer16",
        "hgvsWellDefined": "XP_016873691.1:p.[Asp714_Asp715delinsMet;Thr717_Leu719delinsPro;Leu721_Ser723delinsSerPhe;Ala726_Glu727delinsSerHis;Val729_Gly731del;Thr733_Arg743delinsProLysPro]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS570198"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 2619,
          "referenceAllele": "G",
          "start": 2618
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000059",
      "geneNCBI_id": 6833,
      "geneSymbol": "ABCC8",
      "hgvs": [
        "XM_017018204.1:c.1531del"
      ],
      "proteinEffect": {
        "hgvs": "XP_016873693.1:p.Asp511MetfsTer16",
        "hgvsWellDefined": "XP_016873693.1:p.[Asp511_Asp512delinsMet;Thr514_Leu516delinsPro;Leu518_Ser520delinsSerPhe;Ala523_Glu524delinsSerHis;Val526_Gly528del;Thr530_Arg540delinsProLysPro]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS570199"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 4658,
          "referenceAllele": "G",
          "start": 4657
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000059",
      "geneNCBI_id": 6833,
      "geneSymbol": "ABCC8",
      "hgvs": [
        "XM_024448668.1:c.1942del"
      ],
      "proteinEffect": {
        "hgvs": "XP_024304436.1:p.Asp648MetfsTer16",
        "hgvsWellDefined": "XP_024304436.1:p.[Asp648_Asp649delinsMet;Thr651_Leu653delinsPro;Leu655_Ser657delinsSerPhe;Ala660_Glu661delinsSerHis;Val663_Gly665del;Thr667_Arg677delinsProLysPro]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS582236"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 3715,
          "referenceAllele": "G",
          "start": 3714
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000059",
      "geneNCBI_id": 6833,
      "geneSymbol": "ABCC8",
      "hgvs": [
        "XR_001747945.2:n.3715del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS596022"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 3646,
          "referenceAllele": "G",
          "start": 3645
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000059",
      "geneNCBI_id": 6833,
      "geneSymbol": "ABCC8",
      "hgvs": [
        "XR_001747946.2:n.3646del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS596023"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 3795,
          "referenceAllele": "G",
          "start": 3794
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000059",
      "geneNCBI_id": 6833,
      "geneSymbol": "ABCC8",
      "hgvs": [
        "XR_002957189.1:n.3795del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS603325"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 3643,
          "referenceAllele": "G",
          "start": 3642
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000059",
      "geneNCBI_id": 6833,
      "geneSymbol": "ABCC8",
      "hgvs": [
        "NM_000352.6:c.3574del"
      ],
      "proteinEffect": {
        "hgvs": "NP_000343.2:p.Asp1192MetfsTer16",
        "hgvsWellDefined": "NP_000343.2:p.[Asp1192_Asp1193delinsMet;Thr1195_Leu1197delinsPro;Leu1199_Ser1201delinsSerPhe;Ala1204_Glu1205delinsSerHis;Val1207_Gly1209del;Thr1211_Arg1221delinsProLysPro]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS674803",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000389817.8:c.3574del"
          },
          "RefSeq": {
            "hgvs": "NM_000352.6:c.3574del"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000374467.4:p.Asp1192MetfsTer16"
          },
          "RefSeq": {
            "hgvs": "NP_000343.2:p.Asp1192MetfsTer16"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 3646,
          "referenceAllele": "G",
          "start": 3645
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000059",
      "geneNCBI_id": 6833,
      "geneSymbol": "ABCC8",
      "hgvs": [
        "NM_001287174.2:c.3577del"
      ],
      "proteinEffect": {
        "hgvs": "NP_001274103.1:p.Asp1193MetfsTer16",
        "hgvsWellDefined": "NP_001274103.1:p.[Asp1193_Asp1194delinsMet;Thr1196_Leu1198delinsPro;Leu1200_Ser1202delinsSerPhe;Ala1205_Glu1206delinsSerHis;Val1208_Gly1210del;Thr1212_Arg1222delinsProLysPro]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS682368"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 3709,
          "referenceAllele": "G",
          "start": 3708
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000059",
      "geneNCBI_id": 6833,
      "geneSymbol": "ABCC8",
      "hgvs": [
        "NM_001351295.2:c.3640del"
      ],
      "proteinEffect": {
        "hgvs": "NP_001338224.1:p.Asp1214MetfsTer16",
        "hgvsWellDefined": "NP_001338224.1:p.[Asp1214_Asp1215delinsMet;Thr1217_Leu1219delinsPro;Leu1221_Ser1223delinsSerPhe;Ala1226_Glu1227delinsSerHis;Val1229_Gly1231del;Thr1233_Arg1243delinsProLysPro]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS688742"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 3643,
          "referenceAllele": "G",
          "start": 3642
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000059",
      "geneNCBI_id": 6833,
      "geneSymbol": "ABCC8",
      "hgvs": [
        "NM_001351296.2:c.3574del"
      ],
      "proteinEffect": {
        "hgvs": "NP_001338225.1:p.Asp1192MetfsTer16",
        "hgvsWellDefined": "NP_001338225.1:p.[Asp1192_Asp1193delinsMet;Thr1195_Leu1197delinsPro;Leu1199_Ser1201delinsSerPhe;Ala1204_Glu1205delinsSerHis;Val1207_Gly1209del;Thr1211_Arg1221delinsProLysPro]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS688743"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 3640,
          "referenceAllele": "G",
          "start": 3639
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000059",
      "geneNCBI_id": 6833,
      "geneSymbol": "ABCC8",
      "hgvs": [
        "NM_001351297.2:c.3571del"
      ],
      "proteinEffect": {
        "hgvs": "NP_001338226.1:p.Asp1191MetfsTer16",
        "hgvsWellDefined": "NP_001338226.1:p.[Asp1191_Asp1192delinsMet;Thr1194_Leu1196delinsPro;Leu1198_Ser1200delinsSerPhe;Ala1203_Glu1204delinsSerHis;Val1206_Gly1208del;Thr1210_Arg1220delinsProLysPro]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS688744"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 3723,
          "referenceAllele": "G",
          "start": 3722
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000059",
      "geneNCBI_id": 6833,
      "geneSymbol": "ABCC8",
      "hgvs": [
        "NR_147094.2:n.3723del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS704497"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 3646,
          "referenceAllele": "G",
          "start": 3645
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000059",
      "geneNCBI_id": 6833,
      "geneSymbol": "ABCC8",
      "hgvs": [
        "NM_001287174.3:c.3577del"
      ],
      "proteinEffect": {
        "hgvs": "NP_001274103.1:p.Asp1193MetfsTer16",
        "hgvsWellDefined": "NP_001274103.1:p.[Asp1193_Asp1194delinsMet;Thr1196_Leu1198delinsPro;Leu1200_Ser1202delinsSerPhe;Ala1205_Glu1206delinsSerHis;Val1208_Gly1210del;Thr1212_Arg1222delinsProLysPro]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS716342"
    }
  ],
  "type": "nucleotide"
}