{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA327337",
  "communityStandardTitle": [
    "NM_000492.4(CFTR):c.3908del (p.Asn1303ThrfsTer25)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=68514[alleleid]",
        "alleleId": 68514,
        "preferredName": "NM_000492.4(CFTR):c.3908del (p.Asn1303fs)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/53847",
        "RCV": [
          "RCV000047026",
          "RCV001831785"
        ],
        "variationId": 53847
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/7-117292924-GA-G",
        "id": "7-117292924-GA-G",
        "variant": "7:117292924 GA / G"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr7:g.117292930del?assembly=hg19",
        "id": "chr7:g.117292930del"
      },
      {
        "@id": "http://myvariant.info/v1/variant/chr7:g.117292925del?assembly=hg19",
        "id": "chr7:g.117292925del"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr7:g.117652876del?assembly=hg38",
        "id": "chr7:g.117652876del"
      },
      {
        "@id": "http://myvariant.info/v1/variant/chr7:g.117652871del?assembly=hg38",
        "id": "chr7:g.117652871del"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/397508637",
        "rs": 397508637
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/7-117292924-GA-G?dataset=gnomad_r2_1",
        "id": "7-117292924-GA-G",
        "variant": "7:117292924 GA / G"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/7-117652870-GA-G?dataset=gnomad_r3",
        "id": "7-117652870-GA-G",
        "variant": "7:117652870 GA / G"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/7-117652870-GA-G?dataset=gnomad_r4",
        "id": "7-117652870-GA-G",
        "variant": "7:117652870 GA / G"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "7",
      "coordinates": [
        {
          "allele": "",
          "end": 117652876,
          "referenceAllele": "A",
          "start": 117652875
        }
      ],
      "hgvs": [
        "NC_000007.14:g.117652876del",
        "CM000669.2:g.117652876del"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000055"
    },
    {
      "chromosome": "7",
      "coordinates": [
        {
          "allele": "",
          "end": 117292930,
          "referenceAllele": "A",
          "start": 117292929
        }
      ],
      "hgvs": [
        "NC_000007.13:g.117292930del",
        "CM000669.1:g.117292930del"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000031"
    },
    {
      "chromosome": "7",
      "coordinates": [
        {
          "allele": "",
          "end": 117080166,
          "referenceAllele": "A",
          "start": 117080165
        }
      ],
      "hgvs": [
        "NC_000007.12:g.117080166del"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000007"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 192093,
          "referenceAllele": "A",
          "start": 192092
        }
      ],
      "hgvs": [
        "NG_016465.4:g.192093del",
        "LRG_663:g.192093del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS003205"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "",
          "end": 3815,
          "referenceAllele": "A",
          "start": 3814
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001884",
      "geneNCBI_id": 1080,
      "geneSymbol": "CFTR",
      "hgvs": [
        "ENST00000647720.2:c.*117del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000497673.2:n.*117del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS906457"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 3883,
          "referenceAllele": "A",
          "start": 3882
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001884",
      "geneNCBI_id": 1080,
      "geneSymbol": "CFTR",
      "hgvs": [
        "ENST00000647978.2:c.*3622del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000497658.1:n.*3622del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS906459"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 3809,
          "referenceAllele": "A",
          "start": 3808
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001884",
      "geneNCBI_id": 1080,
      "geneSymbol": "CFTR",
      "hgvs": [
        "ENST00000649781.2:c.3725del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000497203.1:p.Asn1242ThrfsTer25",
        "hgvsWellDefined": "ENSP00000497203.1:p.[Asn1242_Asp1244delinsThrTrpIle;Tyr1246_Trp1249delinsMetAsn;Asp1251_Glu1253delinsGlyVal;Trp1255Lys;Val1257_Leu1263delinsTyrGlyLysLeuGlnMet;Ser1265_Pro1271delinsLeuGlySerAspLeu]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS906473"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 4131,
          "referenceAllele": "A",
          "start": 4130
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001884",
      "geneNCBI_id": 1080,
      "geneSymbol": "CFTR",
      "hgvs": [
        "ENST00000685018.2:c.*121del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000510194.2:n.*121del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS906564"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 4211,
          "referenceAllele": "A",
          "start": 4210
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001884",
      "geneNCBI_id": 1080,
      "geneSymbol": "CFTR",
      "hgvs": [
        "ENST00000687278.2:c.*561del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000509593.2:n.*561del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS906570"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 3815,
          "referenceAllele": "A",
          "start": 3814
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001884",
      "geneNCBI_id": 1080,
      "geneSymbol": "CFTR",
      "hgvs": [
        "ENST00000699585.1:c.*117del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000514456.1:n.*117del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS910468"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 4015,
          "referenceAllele": "A",
          "start": 4014
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001884",
      "geneNCBI_id": 1080,
      "geneSymbol": "CFTR",
      "hgvs": [
        "ENST00000699598.1:c.3908del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000514467.1:p.Asn1303ThrfsTer25",
        "hgvsWellDefined": "ENSP00000514467.1:p.[Asn1303_Asp1305delinsThrTrpIle;Tyr1307_Trp1310delinsMetAsn;Asp1312_Glu1314delinsGlyVal;Trp1316Lys;Val1318_Leu1324delinsTyrGlyLysLeuGlnMet;Ser1326_Pro1332delinsLeuGlySerAspLeu]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS910478"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 4131,
          "referenceAllele": "A",
          "start": 4130
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001884",
      "geneNCBI_id": 1080,
      "geneSymbol": "CFTR",
      "hgvs": [
        "ENST00000699599.1:c.*121del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000514468.1:n.*121del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS910479"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 4219,
          "referenceAllele": "A",
          "start": 4218
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001884",
      "geneNCBI_id": 1080,
      "geneSymbol": "CFTR",
      "hgvs": [
        "ENST00000699600.1:c.*569del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000514469.1:n.*569del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS910480"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 4085,
          "referenceAllele": "A",
          "start": 4084
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001884",
      "geneNCBI_id": 1080,
      "geneSymbol": "CFTR",
      "hgvs": [
        "ENST00000699601.1:c.*2283del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000514470.1:n.*2283del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS910481"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 4009,
          "referenceAllele": "A",
          "start": 4008
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001884",
      "geneNCBI_id": 1080,
      "geneSymbol": "CFTR",
      "hgvs": [
        "ENST00000699602.1:c.3902del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000514471.1:p.Asn1301ThrfsTer25",
        "hgvsWellDefined": "ENSP00000514471.1:p.[Asn1301_Asp1303delinsThrTrpIle;Tyr1305_Trp1308delinsMetAsn;Asp1310_Glu1312delinsGlyVal;Trp1314Lys;Val1316_Leu1322delinsTyrGlyLysLeuGlnMet;Ser1324_Pro1330delinsLeuGlySerAspLeu]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS910482"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 3990,
          "referenceAllele": "A",
          "start": 3989
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001884",
      "geneNCBI_id": 1080,
      "geneSymbol": "CFTR",
      "hgvs": [
        "ENST00000699604.1:c.*3732del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000514472.1:n.*3732del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS910484"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 3904,
          "referenceAllele": "A",
          "start": 3903
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001884",
      "geneNCBI_id": 1080,
      "geneSymbol": "CFTR",
      "hgvs": [
        "ENST00000699605.1:c.3482del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000514473.1:p.Asn1161ThrfsTer25",
        "hgvsWellDefined": "ENSP00000514473.1:p.[Asn1161_Asp1163delinsThrTrpIle;Tyr1165_Trp1168delinsMetAsn;Asp1170_Glu1172delinsGlyVal;Trp1174Lys;Val1176_Leu1182delinsTyrGlyLysLeuGlnMet;Ser1184_Pro1190delinsLeuGlySerAspLeu]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS910485"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 2076,
          "referenceAllele": "A",
          "start": 2075
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001884",
      "geneNCBI_id": 1080,
      "geneSymbol": "CFTR",
      "hgvs": [
        "ENST00000699606.1:n.2076del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS910486"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 772,
          "referenceAllele": "A",
          "start": 771
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001884",
      "geneNCBI_id": 1080,
      "geneSymbol": "CFTR",
      "hgvs": [
        "ENST00000685018.1:c.772del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000510194.1:n.772del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS829845"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1695,
          "referenceAllele": "A",
          "start": 1694
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001884",
      "geneNCBI_id": 1080,
      "geneSymbol": "CFTR",
      "hgvs": [
        "ENST00000687278.1:c.1695del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000509593.1:n.1695del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS831011"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 490,
          "referenceAllele": "A",
          "start": 489
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001884",
      "geneNCBI_id": 1080,
      "geneSymbol": "CFTR",
      "hgvs": [
        "ENST00000689011.1:c.490del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS831939"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 3978,
          "referenceAllele": "A",
          "start": 3977
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001884",
      "geneNCBI_id": 1080,
      "geneSymbol": "CFTR",
      "hgvs": [
        "ENST00000003084.11:c.3908del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000003084.6:p.Asn1303ThrfsTer25",
        "hgvsWellDefined": "ENSP00000003084.6:p.[Asn1303_Asp1305delinsThrTrpIle;Tyr1307_Trp1310delinsMetAsn;Asp1312_Glu1314delinsGlyVal;Trp1316Lys;Val1318_Leu1324delinsTyrGlyLysLeuGlnMet;Ser1326_Pro1332delinsLeuGlySerAspLeu]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS739921",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000003084.11:c.3908del"
          },
          "RefSeq": {
            "hgvs": "NM_000492.4:c.3908del"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000003084.6:p.Asn1303ThrfsTer25"
          },
          "RefSeq": {
            "hgvs": "NP_000483.3:p.Asn1303ThrfsTer25"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1358,
          "referenceAllele": "A",
          "start": 1357
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001884",
      "geneNCBI_id": 1080,
      "geneSymbol": "CFTR",
      "hgvs": [
        "ENST00000647720.1:c.1358del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS769573"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 3725,
          "referenceAllele": "A",
          "start": 3724
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001884",
      "geneNCBI_id": 1080,
      "geneSymbol": "CFTR",
      "hgvs": [
        "ENST00000649781.1:c.3725del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000497203.1:p.Asn1242ThrfsTer25",
        "hgvsWellDefined": "ENSP00000497203.1:p.[Asn1242_Asp1244delinsThrTrpIle;Tyr1246_Trp1249delinsMetAsn;Asp1251_Glu1253delinsGlyVal;Trp1255Lys;Val1257_Leu1263delinsTyrGlyLysLeuGlnMet;Ser1265_Pro1271delinsLeuGlySerAspLeu]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS770746"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 4040,
          "referenceAllele": "A",
          "start": 4039
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001884",
      "geneNCBI_id": 1080,
      "geneSymbol": "CFTR",
      "hgvs": [
        "ENST00000003084.10:c.3908del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000003084.6:p.Asn1303ThrfsTer25",
        "hgvsWellDefined": "ENSP00000003084.6:p.[Asn1303_Asp1305delinsThrTrpIle;Tyr1307_Trp1310delinsMetAsn;Asp1312_Glu1314delinsGlyVal;Trp1316Lys;Val1318_Leu1324delinsTyrGlyLysLeuGlnMet;Ser1326_Pro1332delinsLeuGlySerAspLeu]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247433"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 3818,
          "referenceAllele": "A",
          "start": 3817
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001884",
      "geneNCBI_id": 1080,
      "geneSymbol": "CFTR",
      "hgvs": [
        "ENST00000426809.5:c.3818del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000389119.1:p.Asn1273ThrfsTer25",
        "hgvsWellDefined": "ENSP00000389119.1:p.[Asn1273_Asp1275delinsThrTrpIle;Tyr1277_Trp1280delinsMetAsn;Asp1282_Glu1284delinsGlyVal;Trp1286Lys;Val1288_Leu1294delinsTyrGlyLysLeuGlnMet;Ser1296_Pro1302delinsLeuGlySerAspLeu]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS289393"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 34,
          "referenceAllele": "A",
          "start": 33
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001884",
      "geneNCBI_id": 1080,
      "geneSymbol": "CFTR",
      "hgvs": [
        "ENST00000600166.1:c.34del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS397162"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 4040,
          "referenceAllele": "A",
          "start": 4039
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001884",
      "geneNCBI_id": 1080,
      "geneSymbol": "CFTR",
      "hgvs": [
        "NM_000492.3:c.3908del",
        "LRG_663t1:c.3908del"
      ],
      "proteinEffect": {
        "hgvs": "NP_000483.3:p.Asn1303ThrfsTer25",
        "hgvsWellDefined": "NP_000483.3:p.[Asn1303_Asp1305delinsThrTrpIle;Tyr1307_Trp1310delinsMetAsn;Asp1312_Glu1314delinsGlyVal;Trp1316Lys;Val1318_Leu1324delinsTyrGlyLysLeuGlnMet;Ser1326_Pro1332delinsLeuGlySerAspLeu]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006546"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 4026,
          "referenceAllele": "A",
          "start": 4025
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001884",
      "geneNCBI_id": 1080,
      "geneSymbol": "CFTR",
      "hgvs": [
        "XM_011515751.1:c.3998del"
      ],
      "proteinEffect": {
        "hgvs": "XP_011514053.1:p.Asn1333ThrfsTer25",
        "hgvsWellDefined": "XP_011514053.1:p.[Asn1333_Asp1335delinsThrTrpIle;Tyr1337_Trp1340delinsMetAsn;Asp1342_Glu1344delinsGlyVal;Trp1346Lys;Val1348_Leu1354delinsTyrGlyLysLeuGlnMet;Ser1356_Pro1362delinsLeuGlySerAspLeu]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS082962"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 4040,
          "referenceAllele": "A",
          "start": 4039
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001884",
      "geneNCBI_id": 1080,
      "geneSymbol": "CFTR",
      "hgvs": [
        "XM_011515752.1:c.3998del"
      ],
      "proteinEffect": {
        "hgvs": "XP_011514054.1:p.Asn1333ThrfsTer25",
        "hgvsWellDefined": "XP_011514054.1:p.[Asn1333_Asp1335delinsThrTrpIle;Tyr1337_Trp1340delinsMetAsn;Asp1342_Glu1344delinsGlyVal;Trp1346Lys;Val1348_Leu1354delinsTyrGlyLysLeuGlnMet;Ser1356_Pro1362delinsLeuGlySerAspLeu]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS082963"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 4130,
          "referenceAllele": "A",
          "start": 4129
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001884",
      "geneNCBI_id": 1080,
      "geneSymbol": "CFTR",
      "hgvs": [
        "XM_011515753.1:c.3665del"
      ],
      "proteinEffect": {
        "hgvs": "XP_011514055.1:p.Asn1222ThrfsTer25",
        "hgvsWellDefined": "XP_011514055.1:p.[Asn1222_Asp1224delinsThrTrpIle;Tyr1226_Trp1229delinsMetAsn;Asp1231_Glu1233delinsGlyVal;Trp1235Lys;Val1237_Leu1243delinsTyrGlyLysLeuGlnMet;Ser1245_Pro1251delinsLeuGlySerAspLeu]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS082964"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 5048,
          "referenceAllele": "A",
          "start": 5047
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001884",
      "geneNCBI_id": 1080,
      "geneSymbol": "CFTR",
      "hgvs": [
        "XM_011515754.1:c.3665del"
      ],
      "proteinEffect": {
        "hgvs": "XP_011514056.1:p.Asn1222ThrfsTer25",
        "hgvsWellDefined": "XP_011514056.1:p.[Asn1222_Asp1224delinsThrTrpIle;Tyr1226_Trp1229delinsMetAsn;Asp1231_Glu1233delinsGlyVal;Trp1235Lys;Val1237_Leu1243delinsTyrGlyLysLeuGlnMet;Ser1245_Pro1251delinsLeuGlySerAspLeu]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS082965"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 3978,
          "referenceAllele": "A",
          "start": 3977
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001884",
      "geneNCBI_id": 1080,
      "geneSymbol": "CFTR",
      "hgvs": [
        "NM_000492.4:c.3908del"
      ],
      "proteinEffect": {
        "hgvs": "NP_000483.3:p.Asn1303ThrfsTer25",
        "hgvsWellDefined": "NP_000483.3:p.[Asn1303_Asp1305delinsThrTrpIle;Tyr1307_Trp1310delinsMetAsn;Asp1312_Glu1314delinsGlyVal;Trp1316Lys;Val1318_Leu1324delinsTyrGlyLysLeuGlnMet;Ser1326_Pro1332delinsLeuGlySerAspLeu]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS674867",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000003084.11:c.3908del"
          },
          "RefSeq": {
            "hgvs": "NM_000492.4:c.3908del"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000003084.6:p.Asn1303ThrfsTer25"
          },
          "RefSeq": {
            "hgvs": "NP_000483.3:p.Asn1303ThrfsTer25"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}