{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA340640",
  "communityStandardTitle": [
    "NM_000492.4(CFTR):c.1021_1022dup (p.Phe342HisfsTer28)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=22173[alleleid]",
        "alleleId": 22173,
        "preferredName": "NM_000492.4(CFTR):c.1021_1022dup (p.Phe342fs)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/7134",
        "RCV": [
          "RCV000007554",
          "RCV000723429",
          "RCV000780169",
          "RCV001004249",
          "RCV001831528",
          "RCV003473014"
        ],
        "variationId": 7134
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/7-117180302-A-ATC",
        "id": "7-117180302-A-ATC",
        "variant": "7:117180302 A / ATC"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr7:g.117180305_117180306dupTC?assembly=hg19",
        "id": "chr7:g.117180305_117180306dupTC"
      },
      {
        "@id": "http://myvariant.info/v1/variant/chr7:g.117180306_117180307insTC?assembly=hg19",
        "id": "chr7:g.117180306_117180307insTC"
      },
      {
        "@id": "http://myvariant.info/v1/variant/chr7:g.117180302_117180303insTC?assembly=hg19",
        "id": "chr7:g.117180302_117180303insTC"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr7:g.117540251_117540252dupTC?assembly=hg38",
        "id": "chr7:g.117540251_117540252dupTC"
      },
      {
        "@id": "http://myvariant.info/v1/variant/chr7:g.117540248_117540249insTC?assembly=hg38",
        "id": "chr7:g.117540248_117540249insTC"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/387906360",
        "rs": 387906360
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/7-117180302-A-ATC?dataset=gnomad_r2_1",
        "id": "7-117180302-A-ATC",
        "variant": "7:117180302 A / ATC"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/7-117540248-A-ATC?dataset=gnomad_r3",
        "id": "7-117540248-A-ATC",
        "variant": "7:117540248 A / ATC"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/7-117540248-A-ATC?dataset=gnomad_r4",
        "id": "7-117540248-A-ATC",
        "variant": "7:117540248 A / ATC"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "7",
      "coordinates": [
        {
          "allele": "TC",
          "end": 117540252,
          "referenceAllele": "",
          "start": 117540252
        }
      ],
      "hgvs": [
        "NC_000007.14:g.117540251_117540252dup",
        "CM000669.2:g.117540251_117540252dup"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000055"
    },
    {
      "chromosome": "7",
      "coordinates": [
        {
          "allele": "TC",
          "end": 117180306,
          "referenceAllele": "",
          "start": 117180306
        }
      ],
      "hgvs": [
        "NC_000007.13:g.117180305_117180306dup",
        "CM000669.1:g.117180305_117180306dup"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000031"
    },
    {
      "chromosome": "7",
      "coordinates": [
        {
          "allele": "TC",
          "end": 116967542,
          "referenceAllele": "",
          "start": 116967542
        }
      ],
      "hgvs": [
        "NC_000007.12:g.116967541_116967542dup"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000007"
    },
    {
      "coordinates": [
        {
          "allele": "TC",
          "end": 79469,
          "referenceAllele": "",
          "start": 79469
        }
      ],
      "hgvs": [
        "NG_016465.4:g.79468_79469dup",
        "LRG_663:g.79468_79469dup"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS003205"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "TC",
          "end": 1129,
          "referenceAllele": "",
          "start": 1129
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001884",
      "geneNCBI_id": 1080,
      "geneSymbol": "CFTR",
      "hgvs": [
        "ENST00000647720.2:c.1021_1022dup"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000497673.2:p.Phe342HisfsTer28",
        "hgvsWellDefined": "ENSP00000497673.2:p.[Phe342_Val345delinsHisSerAla;Arg347_Met348delinsPheCys;Val350_Gln353delinsTrpArgSerLeuGlyAsn;Trp356_Ser364delinsGlyLeuTyrLysHisGlyMetThrLeu;Gly366_Lys370delinsGluGln]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS906457"
    },
    {
      "coordinates": [
        {
          "allele": "TC",
          "end": 1180,
          "referenceAllele": "",
          "start": 1180
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001884",
      "geneNCBI_id": 1080,
      "geneSymbol": "CFTR",
      "hgvs": [
        "ENST00000647978.2:c.*918_*919dup"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000497658.1:n.*918_*919dup"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS906459"
    },
    {
      "coordinates": [
        {
          "allele": "TC",
          "end": 1106,
          "referenceAllele": "",
          "start": 1106
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001884",
      "geneNCBI_id": 1080,
      "geneSymbol": "CFTR",
      "hgvs": [
        "ENST00000649781.2:c.1021_1022dup"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000497203.1:p.Phe342HisfsTer28"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS906473"
    },
    {
      "coordinates": [
        {
          "allele": "TC",
          "end": 1129,
          "referenceAllele": "",
          "start": 1129
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001884",
      "geneNCBI_id": 1080,
      "geneSymbol": "CFTR",
      "hgvs": [
        "ENST00000685018.2:c.1021_1022dup"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000510194.2:p.Phe342HisfsTer28",
        "hgvsWellDefined": "ENSP00000510194.2:p.[Phe342_Val345delinsHisSerAla;Arg347_Met348delinsPheCys;Val350_Gln353delinsTrpArgSerLeuGlyAsn;Trp356_Ser364delinsGlyLeuTyrLysHisGlyMetThrLeu;Gly366_Lys370delinsGluGln]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS906564"
    },
    {
      "coordinates": [
        {
          "allele": "TC",
          "end": 1129,
          "referenceAllele": "",
          "start": 1129
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001884",
      "geneNCBI_id": 1080,
      "geneSymbol": "CFTR",
      "hgvs": [
        "ENST00000687278.2:c.1021_1022dup"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000509593.2:p.Phe342HisfsTer28",
        "hgvsWellDefined": "ENSP00000509593.2:p.[Phe342_Val345delinsHisSerAla;Arg347_Met348delinsPheCys;Val350_Gln353delinsTrpArgSerLeuGlyAsn;Trp356_Ser364delinsGlyLeuTyrLysHisGlyMetThrLeu;Gly366_Lys370delinsGluGln]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS906570"
    },
    {
      "coordinates": [
        {
          "allele": "TC",
          "end": 1129,
          "referenceAllele": "",
          "start": 1129
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001884",
      "geneNCBI_id": 1080,
      "geneSymbol": "CFTR",
      "hgvs": [
        "ENST00000699585.1:c.1021_1022dup"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000514456.1:p.Phe342HisfsTer28",
        "hgvsWellDefined": "ENSP00000514456.1:p.[Phe342_Val345delinsHisSerAla;Arg347_Met348delinsPheCys;Val350_Gln353delinsTrpArgSerLeuGlyAsn;Trp356_Ser364delinsGlyLeuTyrLysHisGlyMetThrLeu;Gly366_Lys370delinsGluGln]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS910468"
    },
    {
      "coordinates": [
        {
          "allele": "TC",
          "end": 1129,
          "referenceAllele": "",
          "start": 1129
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001884",
      "geneNCBI_id": 1080,
      "geneSymbol": "CFTR",
      "hgvs": [
        "ENST00000699596.1:c.1021_1022dup"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000514465.1:p.Phe342HisfsTer28",
        "hgvsWellDefined": "ENSP00000514465.1:p.[Phe342_Val345delinsHisSerAla;Arg347_Met348delinsPheCys;Val350_Gln353delinsTrpArgSerLeuGlyAsn;Trp356_Ser364delinsGlyLeuTyrLysHisGlyMetThrLeu;Gly366_Lys370delinsGluGln]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS910476"
    },
    {
      "coordinates": [
        {
          "allele": "TC",
          "end": 1129,
          "referenceAllele": "",
          "start": 1129
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001884",
      "geneNCBI_id": 1080,
      "geneSymbol": "CFTR",
      "hgvs": [
        "ENST00000699597.1:c.1021_1022dup"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000514466.1:p.Phe342HisfsTer28",
        "hgvsWellDefined": "ENSP00000514466.1:p.[Phe342_Val345delinsHisSerAla;Arg347_Met348delinsPheCys;Val350_Gln353delinsTrpArgSerLeuGlyAsn;Trp356_Ser364delinsGlyLeuTyrLysHisGlyMetThrLeu;Gly366_Lys370delinsGluGln]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS910477"
    },
    {
      "coordinates": [
        {
          "allele": "TC",
          "end": 1129,
          "referenceAllele": "",
          "start": 1129
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001884",
      "geneNCBI_id": 1080,
      "geneSymbol": "CFTR",
      "hgvs": [
        "ENST00000699598.1:c.1021_1022dup"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000514467.1:p.Phe342HisfsTer28"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS910478"
    },
    {
      "coordinates": [
        {
          "allele": "TC",
          "end": 1129,
          "referenceAllele": "",
          "start": 1129
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001884",
      "geneNCBI_id": 1080,
      "geneSymbol": "CFTR",
      "hgvs": [
        "ENST00000699599.1:c.1021_1022dup"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000514468.1:p.Phe342HisfsTer28",
        "hgvsWellDefined": "ENSP00000514468.1:p.[Phe342_Val345delinsHisSerAla;Arg347_Met348delinsPheCys;Val350_Gln353delinsTrpArgSerLeuGlyAsn;Trp356_Ser364delinsGlyLeuTyrLysHisGlyMetThrLeu;Gly366_Lys370delinsGluGln]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS910479"
    },
    {
      "coordinates": [
        {
          "allele": "TC",
          "end": 1129,
          "referenceAllele": "",
          "start": 1129
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001884",
      "geneNCBI_id": 1080,
      "geneSymbol": "CFTR",
      "hgvs": [
        "ENST00000699600.1:c.1021_1022dup"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000514469.1:p.Phe342HisfsTer28",
        "hgvsWellDefined": "ENSP00000514469.1:p.[Phe342_Val345delinsHisSerAla;Arg347_Met348delinsPheCys;Val350_Gln353delinsTrpArgSerLeuGlyAsn;Trp356_Ser364delinsGlyLeuTyrLysHisGlyMetThrLeu;Gly366_Lys370delinsGluGln]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS910480"
    },
    {
      "coordinates": [
        {
          "allele": "TC",
          "end": 1129,
          "referenceAllele": "",
          "start": 1129
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001884",
      "geneNCBI_id": 1080,
      "geneSymbol": "CFTR",
      "hgvs": [
        "ENST00000699601.1:c.1021_1022dup"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000514470.1:p.Phe342HisfsTer28",
        "hgvsWellDefined": "ENSP00000514470.1:p.[Phe342_Val345delinsHisSerAla;Arg347_Met348delinsPheCys;Val350_Gln353delinsTrpArgSerLeuGlyAsn;Trp356_Ser364delinsGlyLeuTyrLysHisGlyMetThrLeu;Gly366_Lys370delinsGluGln]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS910481"
    },
    {
      "coordinates": [
        {
          "allele": "TC",
          "end": 1129,
          "referenceAllele": "",
          "start": 1129
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001884",
      "geneNCBI_id": 1080,
      "geneSymbol": "CFTR",
      "hgvs": [
        "ENST00000699602.1:c.1021_1022dup"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000514471.1:p.Phe342HisfsTer28"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS910482"
    },
    {
      "coordinates": [
        {
          "allele": "TC",
          "end": 1104,
          "referenceAllele": "",
          "start": 1104
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001884",
      "geneNCBI_id": 1080,
      "geneSymbol": "CFTR",
      "hgvs": [
        "ENST00000699604.1:c.*845_*846dup"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000514472.1:n.*845_*846dup"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS910484"
    },
    {
      "coordinates": [
        {
          "allele": "TC",
          "end": 1201,
          "referenceAllele": "",
          "start": 1201
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001884",
      "geneNCBI_id": 1080,
      "geneSymbol": "CFTR",
      "hgvs": [
        "ENST00000699605.1:c.778_779dup"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000514473.1:p.Phe261HisfsTer28"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS910485"
    },
    {
      "coordinates": [
        {
          "allele": "TC",
          "end": 1092,
          "referenceAllele": "",
          "start": 1092
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001884",
      "geneNCBI_id": 1080,
      "geneSymbol": "CFTR",
      "hgvs": [
        "ENST00000003084.11:c.1021_1022dup"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000003084.6:p.Phe342HisfsTer28"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS739921",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000003084.11:c.1021_1022dup"
          },
          "RefSeq": {
            "hgvs": "NM_000492.4:c.1021_1022dup"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000003084.6:p.Phe342HisfsTer28"
          },
          "RefSeq": {
            "hgvs": "NP_000483.3:p.Phe342HisfsTer28"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "TC",
          "end": 1180,
          "referenceAllele": "",
          "start": 1180
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001884",
      "geneNCBI_id": 1080,
      "geneSymbol": "CFTR",
      "hgvs": [
        "ENST00000647978.1:c.*918_*919dup"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000497658.1:n.*918_*919dup"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS769718"
    },
    {
      "coordinates": [
        {
          "allele": "TC",
          "end": 1106,
          "referenceAllele": "",
          "start": 1106
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001884",
      "geneNCBI_id": 1080,
      "geneSymbol": "CFTR",
      "hgvs": [
        "ENST00000648260.1:c.1021_1022dup"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000497957.1:p.Phe342HisfsTer28",
        "hgvsWellDefined": "ENSP00000497957.1:p.[Phe342_Val345delinsHisSerAla;Arg347_Met348delinsPheCys;Val350_Gln353delinsTrpArgSerLeuGlyAsn;Trp356_Ser364delinsGlyLeuTyrLysHisGlyMetThrLeu;Gly366_Lys370delinsGluGln]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS769868"
    },
    {
      "coordinates": [
        {
          "allele": "TC",
          "end": 1106,
          "referenceAllele": "",
          "start": 1106
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001884",
      "geneNCBI_id": 1080,
      "geneSymbol": "CFTR",
      "hgvs": [
        "ENST00000649406.1:c.1021_1022dup"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000497965.1:p.Phe342HisfsTer28",
        "hgvsWellDefined": "ENSP00000497965.1:p.[Phe342_Val345delinsHisSerAla;Arg347_Met348delinsPheCys;Val350_Gln353delinsTrpArgSerLeuGlyAsn;Trp356_Ser364delinsGlyLeuTyrLysHisGlyMetThrLeu;Gly366_Lys370delinsGluGln]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS770520"
    },
    {
      "coordinates": [
        {
          "allele": "TC",
          "end": 1022,
          "referenceAllele": "",
          "start": 1022
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001884",
      "geneNCBI_id": 1080,
      "geneSymbol": "CFTR",
      "hgvs": [
        "ENST00000649781.1:c.1021_1022dup"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000497203.1:p.Phe342HisfsTer28"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS770746"
    },
    {
      "coordinates": [
        {
          "allele": "TC",
          "end": 1484,
          "referenceAllele": "",
          "start": 1484
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001884",
      "geneNCBI_id": 1080,
      "geneSymbol": "CFTR",
      "hgvs": [
        "ENST00000673785.1:c.778_779dup"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000501235.1:p.Phe261HisfsTer28",
        "hgvsWellDefined": "ENSP00000501235.1:p.[Phe261_Val264delinsHisSerAla;Arg266_Met267delinsPheCys;Val269_Gln272delinsTrpArgSerLeuGlyAsn;Trp275_Ser283delinsGlyLeuTyrLysHisGlyMetThrLeu;Gly285_Lys289delinsGluGln]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS773869"
    },
    {
      "coordinates": [
        {
          "allele": "TC",
          "end": 1154,
          "referenceAllele": "",
          "start": 1154
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001884",
      "geneNCBI_id": 1080,
      "geneSymbol": "CFTR",
      "hgvs": [
        "ENST00000003084.10:c.1021_1022dup"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000003084.6:p.Phe342HisfsTer28"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247433"
    },
    {
      "coordinates": [
        {
          "allele": "TC",
          "end": 932,
          "referenceAllele": "",
          "start": 932
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001884",
      "geneNCBI_id": 1080,
      "geneSymbol": "CFTR",
      "hgvs": [
        "ENST00000426809.5:c.931_932dup"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000389119.1:p.Phe312HisfsTer28"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS289393"
    },
    {
      "coordinates": [
        {
          "allele": "TC",
          "end": 1154,
          "referenceAllele": "",
          "start": 1154
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001884",
      "geneNCBI_id": 1080,
      "geneSymbol": "CFTR",
      "hgvs": [
        "NM_000492.3:c.1021_1022dup",
        "LRG_663t1:c.1021_1022dup"
      ],
      "proteinEffect": {
        "hgvs": "NP_000483.3:p.Phe342HisfsTer28"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006546"
    },
    {
      "coordinates": [
        {
          "allele": "TC",
          "end": 1140,
          "referenceAllele": "",
          "start": 1140
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001884",
      "geneNCBI_id": 1080,
      "geneSymbol": "CFTR",
      "hgvs": [
        "XM_011515751.1:c.1111_1112dup"
      ],
      "proteinEffect": {
        "hgvs": "XP_011514053.1:p.Phe372HisfsTer28"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS082962"
    },
    {
      "coordinates": [
        {
          "allele": "TC",
          "end": 1154,
          "referenceAllele": "",
          "start": 1154
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001884",
      "geneNCBI_id": 1080,
      "geneSymbol": "CFTR",
      "hgvs": [
        "XM_011515752.1:c.1111_1112dup"
      ],
      "proteinEffect": {
        "hgvs": "XP_011514054.1:p.Phe372HisfsTer28"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS082963"
    },
    {
      "coordinates": [
        {
          "allele": "TC",
          "end": 1244,
          "referenceAllele": "",
          "start": 1244
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001884",
      "geneNCBI_id": 1080,
      "geneSymbol": "CFTR",
      "hgvs": [
        "XM_011515753.1:c.778_779dup"
      ],
      "proteinEffect": {
        "hgvs": "XP_011514055.1:p.Phe261HisfsTer28"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS082964"
    },
    {
      "coordinates": [
        {
          "allele": "TC",
          "end": 2162,
          "referenceAllele": "",
          "start": 2162
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001884",
      "geneNCBI_id": 1080,
      "geneSymbol": "CFTR",
      "hgvs": [
        "XM_011515754.1:c.778_779dup"
      ],
      "proteinEffect": {
        "hgvs": "XP_011514056.1:p.Phe261HisfsTer28"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS082965"
    },
    {
      "coordinates": [
        {
          "allele": "TC",
          "end": 1092,
          "referenceAllele": "",
          "start": 1092
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001884",
      "geneNCBI_id": 1080,
      "geneSymbol": "CFTR",
      "hgvs": [
        "NM_000492.4:c.1021_1022dup"
      ],
      "proteinEffect": {
        "hgvs": "NP_000483.3:p.Phe342HisfsTer28"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS674867",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000003084.11:c.1021_1022dup"
          },
          "RefSeq": {
            "hgvs": "NM_000492.4:c.1021_1022dup"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000003084.6:p.Phe342HisfsTer28"
          },
          "RefSeq": {
            "hgvs": "NP_000483.3:p.Phe342HisfsTer28"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}