{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA431664295",
  "communityStandardTitle": [
    "NM_025243.4(SLC19A3):c.597dup (p.His200SerfsTer25)"
  ],
  "externalRecords": {
    "COSMIC": [
      {
        "@id": "http://cancer.sanger.ac.uk/cosmic/mutation/overview?id=5491591",
        "active": true,
        "id": "COSM5491591"
      },
      {
        "@id": "http://cancer.sanger.ac.uk/cosmic/mutation/overview?id=5491592",
        "active": true,
        "id": "COSM5491592"
      }
    ],
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=517859[alleleid]",
        "alleleId": 517859,
        "preferredName": "NM_025243.4(SLC19A3):c.597dup (p.His200fs)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/533549",
        "RCV": [
          "RCV000640712",
          "RCV001268315"
        ],
        "variationId": 533549
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr2:g.228563834dup?assembly=hg19",
        "id": "chr2:g.228563834dup"
      },
      {
        "@id": "http://myvariant.info/v1/variant/chr2:g.228563834_228563835insA?assembly=hg19",
        "id": "chr2:g.228563834_228563835insA"
      },
      {
        "@id": "http://myvariant.info/v1/variant/chr2:g.228563833_228563834insA?assembly=hg19",
        "id": "chr2:g.228563833_228563834insA"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr2:g.227699118dup?assembly=hg38",
        "id": "chr2:g.227699118dup"
      },
      {
        "@id": "http://myvariant.info/v1/variant/chr2:g.227699118_227699119insA?assembly=hg38",
        "id": "chr2:g.227699118_227699119insA"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/773140674",
        "rs": 773140674
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/2-228563833-G-GA?dataset=gnomad_r2_1",
        "id": "2-228563833-G-GA",
        "variant": "2:228563833 G / GA"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/2-227699117-G-GA?dataset=gnomad_r3",
        "id": "2-227699117-G-GA",
        "variant": "2:227699117 G / GA"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/2-227699117-G-GA?dataset=gnomad_r4",
        "id": "2-227699117-G-GA",
        "variant": "2:227699117 G / GA"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "2",
      "coordinates": [
        {
          "allele": "A",
          "end": 227699123,
          "referenceAllele": "",
          "start": 227699123
        }
      ],
      "hgvs": [
        "NC_000002.12:g.227699123dup",
        "CM000664.2:g.227699123dup"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000050"
    },
    {
      "chromosome": "2",
      "coordinates": [
        {
          "allele": "A",
          "end": 228563839,
          "referenceAllele": "",
          "start": 228563839
        }
      ],
      "hgvs": [
        "NC_000002.11:g.228563839dup",
        "CM000664.1:g.228563839dup"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000026"
    },
    {
      "chromosome": "2",
      "coordinates": [
        {
          "allele": "A",
          "end": 228272083,
          "referenceAllele": "",
          "start": 228272083
        }
      ],
      "hgvs": [
        "NC_000002.10:g.228272083dup"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000002"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 23912,
          "referenceAllele": "",
          "start": 23912
        }
      ],
      "hgvs": [
        "NG_016359.1:g.23912dup"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS003122"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 763,
          "referenceAllele": "",
          "start": 763
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016266",
      "geneNCBI_id": 80704,
      "geneSymbol": "SLC19A3",
      "hgvs": [
        "ENST00000258403.8:c.597dup"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000258403.3:p.His200SerfsTer25",
        "hgvsWellDefined": "ENSP00000258403.3:p.[His200_Ala201delinsSerCys;Pro203_Ile207delinsThrGlnGlnArgAsn;Lys209_Ser212delinsGlu;Asn214_Leu217delinsIleLysArg;Glu219_Glu222delinsSerSerIleArg;Glu224_Glu229delinsAsnSerArgArg]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS741901"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 954,
          "referenceAllele": "",
          "start": 954
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016266",
      "geneNCBI_id": 80704,
      "geneSymbol": "SLC19A3",
      "hgvs": [
        "ENST00000425817.6:c.*622dup"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000397393.2:n.*622dup"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS755100"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 854,
          "referenceAllele": "",
          "start": 854
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016266",
      "geneNCBI_id": 80704,
      "geneSymbol": "SLC19A3",
      "hgvs": [
        "ENST00000431622.6:c.*622dup"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000400627.1:n.*622dup"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS755373"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 787,
          "referenceAllele": "",
          "start": 787
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016266",
      "geneNCBI_id": 80704,
      "geneSymbol": "SLC19A3",
      "hgvs": [
        "ENST00000642268.1:n.787dup"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS766649"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 685,
          "referenceAllele": "",
          "start": 685
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016266",
      "geneNCBI_id": 80704,
      "geneSymbol": "SLC19A3",
      "hgvs": [
        "ENST00000644224.2:c.597dup"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000495385.1:p.His200SerfsTer25",
        "hgvsWellDefined": "ENSP00000495385.1:p.[His200_Ala201delinsSerCys;Pro203_Ile207delinsThrGlnGlnArgAsn;Lys209_Ser212delinsGlu;Asn214_Leu217delinsIleLysArg;Glu219_Glu222delinsSerSerIleArg;Glu224_Glu229delinsAsnSerArgArg]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS767708",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000644224.2:c.597dup"
          },
          "RefSeq": {
            "hgvs": "NM_025243.4:c.597dup"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000495385.1:p.His200SerfsTer25"
          },
          "RefSeq": {
            "hgvs": "NP_079519.1:p.His200SerfsTer25"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 152,
          "endIntronDirection": "-",
          "endIntronOffset": 271,
          "referenceAllele": "",
          "start": 152,
          "startIntronDirection": "-",
          "startIntronOffset": 271
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016266",
      "geneNCBI_id": 80704,
      "geneSymbol": "SLC19A3",
      "hgvs": [
        "ENST00000645700.1:c.151-272dup"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000495372.1:n.151-272dup"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS768509"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 506,
          "referenceAllele": "",
          "start": 506
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016266",
      "geneNCBI_id": 80704,
      "geneSymbol": "SLC19A3",
      "hgvs": [
        "ENST00000645923.1:c.282dup"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000495010.1:p.His95SerfsTer25",
        "hgvsWellDefined": "ENSP00000495010.1:p.[His95_Ala96delinsSerCys;Pro98_Ile102delinsThrGlnGlnArgAsn;Lys104_Ser107delinsGlu;Asn109_Leu112delinsIleLysArg;Glu114_Glu117delinsSerSerIleArg;Glu119_Glu124delinsAsnSerArgArg]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS768610"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 941,
          "referenceAllele": "",
          "start": 941
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016266",
      "geneNCBI_id": 80704,
      "geneSymbol": "SLC19A3",
      "hgvs": [
        "ENST00000646591.1:c.633dup"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000496701.1:p.His212SerfsTer25",
        "hgvsWellDefined": "ENSP00000496701.1:p.[His212_Ala213delinsSerCys;Pro215_Ile219delinsThrGlnGlnArgAsn;Lys221_Ser224delinsGlu;Asn226_Leu229delinsIleLysArg;Glu231_Glu234delinsSerSerIleArg;Glu236_Glu241delinsAsnSerArgArg]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS768959"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 152,
          "endIntronDirection": "-",
          "endIntronOffset": 3036,
          "referenceAllele": "",
          "start": 152,
          "startIntronDirection": "-",
          "startIntronOffset": 3036
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016266",
      "geneNCBI_id": 80704,
      "geneSymbol": "SLC19A3",
      "hgvs": [
        "ENST00000647113.1:c.151-3037dup"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000494966.1:n.151-3037dup"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS769240"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 327,
          "referenceAllele": "",
          "start": 327
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016266",
      "geneNCBI_id": 80704,
      "geneSymbol": "SLC19A3",
      "hgvs": [
        "ENST00000676066.1:n.327dup"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS775803"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 669,
          "referenceAllele": "",
          "start": 669
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016266",
      "geneNCBI_id": 80704,
      "geneSymbol": "SLC19A3",
      "hgvs": [
        "ENST00000258403.7:c.597dup"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000258403.3:p.His200SerfsTer25",
        "hgvsWellDefined": "ENSP00000258403.3:p.[His200_Ala201delinsSerCys;Pro203_Ile207delinsThrGlnGlnArgAsn;Lys209_Ser212delinsGlu;Asn214_Leu217delinsIleLysArg;Glu219_Glu222delinsSerSerIleArg;Glu224_Glu229delinsAsnSerArgArg]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS250379"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 329,
          "endIntronDirection": "+",
          "endIntronOffset": 338,
          "referenceAllele": "",
          "start": 329,
          "startIntronDirection": "+",
          "startIntronOffset": 338
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016266",
      "geneNCBI_id": 80704,
      "geneSymbol": "SLC19A3",
      "hgvs": [
        "ENST00000409287.5:c.259+338dup"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000386298.1:n.259+338dup"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS281415"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 667,
          "referenceAllele": "",
          "start": 667
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016266",
      "geneNCBI_id": 80704,
      "geneSymbol": "SLC19A3",
      "hgvs": [
        "ENST00000425817.5:c.597dup"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000397393.1:p.His200SerfsTer25",
        "hgvsWellDefined": "ENSP00000397393.1:p.[His200_Ala201delinsSerCys;Pro203_Ile207delinsThrGlnGlnArgAsn;Lys209_Ser212delinsGlu;Asn214_Leu217delinsIleLysArg;Glu219_Glu222delinsSerSerIleArg;Glu224_Glu229delinsAsnSerArgArg]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS288930"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 686,
          "referenceAllele": "",
          "start": 686
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016266",
      "geneNCBI_id": 80704,
      "geneSymbol": "SLC19A3",
      "hgvs": [
        "NM_025243.3:c.597dup"
      ],
      "proteinEffect": {
        "hgvs": "NP_079519.1:p.His200SerfsTer25",
        "hgvsWellDefined": "NP_079519.1:p.[His200_Ala201delinsSerCys;Pro203_Ile207delinsThrGlnGlnArgAsn;Lys209_Ser212delinsGlu;Asn214_Leu217delinsIleLysArg;Glu219_Glu222delinsSerSerIleArg;Glu224_Glu229delinsAsnSerArgArg]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS038300"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 852,
          "referenceAllele": "",
          "start": 852
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016266",
      "geneNCBI_id": 80704,
      "geneSymbol": "SLC19A3",
      "hgvs": [
        "XM_005246874.2:c.585dup"
      ],
      "proteinEffect": {
        "hgvs": "XP_005246931.1:p.His196SerfsTer25",
        "hgvsWellDefined": "XP_005246931.1:p.[His196_Ala197delinsSerCys;Pro199_Ile203delinsThrGlnGlnArgAsn;Lys205_Ser208delinsGlu;Asn210_Leu213delinsIleLysArg;Glu215_Glu218delinsSerSerIleArg;Glu220_Glu225delinsAsnSerArgArg]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS057820"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 771,
          "referenceAllele": "",
          "start": 771
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016266",
      "geneNCBI_id": 80704,
      "geneSymbol": "SLC19A3",
      "hgvs": [
        "XM_006712779.2:c.612dup"
      ],
      "proteinEffect": {
        "hgvs": "XP_006712842.1:p.His205SerfsTer25",
        "hgvsWellDefined": "XP_006712842.1:p.[His205_Ala206delinsSerCys;Pro208_Ile212delinsThrGlnGlnArgAsn;Lys214_Ser217delinsGlu;Asn219_Leu222delinsIleLysArg;Glu224_Glu227delinsSerSerIleArg;Glu229_Glu234delinsAsnSerArgArg]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS069824"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 792,
          "referenceAllele": "",
          "start": 792
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016266",
      "geneNCBI_id": 80704,
      "geneSymbol": "SLC19A3",
      "hgvs": [
        "XM_011511931.1:c.633dup"
      ],
      "proteinEffect": {
        "hgvs": "XP_011510233.1:p.His212SerfsTer25",
        "hgvsWellDefined": "XP_011510233.1:p.[His212_Ala213delinsSerCys;Pro215_Ile219delinsThrGlnGlnArgAsn;Lys221_Ser224delinsGlu;Asn226_Leu229delinsIleLysArg;Glu231_Glu234delinsSerSerIleArg;Glu236_Glu241delinsAsnSerArgArg]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS079190"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 763,
          "referenceAllele": "",
          "start": 763
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016266",
      "geneNCBI_id": 80704,
      "geneSymbol": "SLC19A3",
      "hgvs": [
        "XM_011511932.1:c.597dup"
      ],
      "proteinEffect": {
        "hgvs": "XP_011510234.1:p.His200SerfsTer25",
        "hgvsWellDefined": "XP_011510234.1:p.[His200_Ala201delinsSerCys;Pro203_Ile207delinsThrGlnGlnArgAsn;Lys209_Ser212delinsGlu;Asn214_Leu217delinsIleLysArg;Glu219_Glu222delinsSerSerIleArg;Glu224_Glu229delinsAsnSerArgArg]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS079191"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1029,
          "referenceAllele": "",
          "start": 1029
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016266",
      "geneNCBI_id": 80704,
      "geneSymbol": "SLC19A3",
      "hgvs": [
        "XM_011511933.1:c.597dup"
      ],
      "proteinEffect": {
        "hgvs": "XP_011510235.1:p.His200SerfsTer25",
        "hgvsWellDefined": "XP_011510235.1:p.[His200_Ala201delinsSerCys;Pro203_Ile207delinsThrGlnGlnArgAsn;Lys209_Ser212delinsGlu;Asn214_Leu217delinsIleLysArg;Glu219_Glu222delinsSerSerIleArg;Glu224_Glu229delinsAsnSerArgArg]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS079192"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 849,
          "referenceAllele": "",
          "start": 849
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016266",
      "geneNCBI_id": 80704,
      "geneSymbol": "SLC19A3",
      "hgvs": [
        "XM_005246874.3:c.585dup"
      ],
      "proteinEffect": {
        "hgvs": "XP_005246931.1:p.His196SerfsTer25",
        "hgvsWellDefined": "XP_005246931.1:p.[His196_Ala197delinsSerCys;Pro199_Ile203delinsThrGlnGlnArgAsn;Lys205_Ser208delinsGlu;Asn210_Leu213delinsIleLysArg;Glu215_Glu218delinsSerSerIleArg;Glu220_Glu225delinsAsnSerArgArg]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS532712"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 941,
          "referenceAllele": "",
          "start": 941
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016266",
      "geneNCBI_id": 80704,
      "geneSymbol": "SLC19A3",
      "hgvs": [
        "XM_011511931.2:c.633dup"
      ],
      "proteinEffect": {
        "hgvs": "XP_011510233.1:p.His212SerfsTer25",
        "hgvsWellDefined": "XP_011510233.1:p.[His212_Ala213delinsSerCys;Pro215_Ile219delinsThrGlnGlnArgAsn;Lys221_Ser224delinsGlu;Asn226_Leu229delinsIleLysArg;Glu231_Glu234delinsSerSerIleArg;Glu236_Glu241delinsAsnSerArgArg]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS542351"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1031,
          "referenceAllele": "",
          "start": 1031
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016266",
      "geneNCBI_id": 80704,
      "geneSymbol": "SLC19A3",
      "hgvs": [
        "XM_017005030.1:c.837dup"
      ],
      "proteinEffect": {
        "hgvs": "XP_016860519.1:p.His280SerfsTer25",
        "hgvsWellDefined": "XP_016860519.1:p.[His280_Ala281delinsSerCys;Pro283_Ile287delinsThrGlnGlnArgAsn;Lys289_Ser292delinsGlu;Asn294_Leu297delinsIleLysArg;Glu299_Glu302delinsSerSerIleArg;Glu304_Glu309delinsAsnSerArgArg]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS560395"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1010,
          "referenceAllele": "",
          "start": 1010
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016266",
      "geneNCBI_id": 80704,
      "geneSymbol": "SLC19A3",
      "hgvs": [
        "XM_017005031.1:c.816dup"
      ],
      "proteinEffect": {
        "hgvs": "XP_016860520.1:p.His273SerfsTer25",
        "hgvsWellDefined": "XP_016860520.1:p.[His273_Ala274delinsSerCys;Pro276_Ile280delinsThrGlnGlnArgAsn;Lys282_Ser285delinsGlu;Asn287_Leu290delinsIleLysArg;Glu292_Glu295delinsSerSerIleArg;Glu297_Glu302delinsAsnSerArgArg]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS560396"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 891,
          "referenceAllele": "",
          "start": 891
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016266",
      "geneNCBI_id": 80704,
      "geneSymbol": "SLC19A3",
      "hgvs": [
        "XM_017005032.1:c.801dup"
      ],
      "proteinEffect": {
        "hgvs": "XP_016860521.1:p.His268SerfsTer25",
        "hgvsWellDefined": "XP_016860521.1:p.[His268_Ala269delinsSerCys;Pro271_Ile275delinsThrGlnGlnArgAsn;Lys277_Ser280delinsGlu;Asn282_Leu285delinsIleLysArg;Glu287_Glu290delinsSerSerIleArg;Glu292_Glu297delinsAsnSerArgArg]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS560397"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1205,
          "referenceAllele": "",
          "start": 1205
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016266",
      "geneNCBI_id": 80704,
      "geneSymbol": "SLC19A3",
      "hgvs": [
        "XM_017005033.1:c.801dup"
      ],
      "proteinEffect": {
        "hgvs": "XP_016860522.1:p.His268SerfsTer25",
        "hgvsWellDefined": "XP_016860522.1:p.[His268_Ala269delinsSerCys;Pro271_Ile275delinsThrGlnGlnArgAsn;Lys277_Ser280delinsGlu;Asn282_Leu285delinsIleLysArg;Glu287_Glu290delinsSerSerIleArg;Glu292_Glu297delinsAsnSerArgArg]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS560398"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1074,
          "referenceAllele": "",
          "start": 1074
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016266",
      "geneNCBI_id": 80704,
      "geneSymbol": "SLC19A3",
      "hgvs": [
        "XM_017005034.2:c.801dup"
      ],
      "proteinEffect": {
        "hgvs": "XP_016860523.1:p.His268SerfsTer25",
        "hgvsWellDefined": "XP_016860523.1:p.[His268_Ala269delinsSerCys;Pro271_Ile275delinsThrGlnGlnArgAsn;Lys277_Ser280delinsGlu;Asn282_Leu285delinsIleLysArg;Glu287_Glu290delinsSerSerIleArg;Glu292_Glu297delinsAsnSerArgArg]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS560399"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 685,
          "referenceAllele": "",
          "start": 685
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016266",
      "geneNCBI_id": 80704,
      "geneSymbol": "SLC19A3",
      "hgvs": [
        "NM_025243.4:c.597dup"
      ],
      "proteinEffect": {
        "hgvs": "NP_079519.1:p.His200SerfsTer25",
        "hgvsWellDefined": "NP_079519.1:p.[His200_Ala201delinsSerCys;Pro203_Ile207delinsThrGlnGlnArgAsn;Lys209_Ser212delinsGlu;Asn214_Leu217delinsIleLysArg;Glu219_Glu222delinsSerSerIleArg;Glu224_Glu229delinsAsnSerArgArg]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS670951",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000644224.2:c.597dup"
          },
          "RefSeq": {
            "hgvs": "NM_025243.4:c.597dup"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000495385.1:p.His200SerfsTer25"
          },
          "RefSeq": {
            "hgvs": "NP_079519.1:p.His200SerfsTer25"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 775,
          "referenceAllele": "",
          "start": 775
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016266",
      "geneNCBI_id": 80704,
      "geneSymbol": "SLC19A3",
      "hgvs": [
        "NM_001371411.1:c.597dup"
      ],
      "proteinEffect": {
        "hgvs": "NP_001358340.1:p.His200SerfsTer25",
        "hgvsWellDefined": "NP_001358340.1:p.[His200_Ala201delinsSerCys;Pro203_Ile207delinsThrGlnGlnArgAsn;Lys209_Ser212delinsGlu;Asn214_Leu217delinsIleLysArg;Glu219_Glu222delinsSerSerIleArg;Glu224_Glu229delinsAsnSerArgArg]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS692890"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 941,
          "referenceAllele": "",
          "start": 941
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016266",
      "geneNCBI_id": 80704,
      "geneSymbol": "SLC19A3",
      "hgvs": [
        "NM_001371412.1:c.597dup"
      ],
      "proteinEffect": {
        "hgvs": "NP_001358341.1:p.His200SerfsTer25",
        "hgvsWellDefined": "NP_001358341.1:p.[His200_Ala201delinsSerCys;Pro203_Ile207delinsThrGlnGlnArgAsn;Lys209_Ser212delinsGlu;Asn214_Leu217delinsIleLysArg;Glu219_Glu222delinsSerSerIleArg;Glu224_Glu229delinsAsnSerArgArg]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS692891"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 881,
          "referenceAllele": "",
          "start": 881
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016266",
      "geneNCBI_id": 80704,
      "geneSymbol": "SLC19A3",
      "hgvs": [
        "NM_001371413.1:c.585dup"
      ],
      "proteinEffect": {
        "hgvs": "NP_001358342.1:p.His196SerfsTer25",
        "hgvsWellDefined": "NP_001358342.1:p.[His196_Ala197delinsSerCys;Pro199_Ile203delinsThrGlnGlnArgAsn;Lys205_Ser208delinsGlu;Asn210_Leu213delinsIleLysArg;Glu215_Glu218delinsSerSerIleArg;Glu220_Glu225delinsAsnSerArgArg]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS692892"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1260,
          "referenceAllele": "",
          "start": 1260
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016266",
      "geneNCBI_id": 80704,
      "geneSymbol": "SLC19A3",
      "hgvs": [
        "NM_001371414.1:c.585dup"
      ],
      "proteinEffect": {
        "hgvs": "NP_001358343.1:p.His196SerfsTer25",
        "hgvsWellDefined": "NP_001358343.1:p.[His196_Ala197delinsSerCys;Pro199_Ile203delinsThrGlnGlnArgAsn;Lys205_Ser208delinsGlu;Asn210_Leu213delinsIleLysArg;Glu215_Glu218delinsSerSerIleArg;Glu220_Glu225delinsAsnSerArgArg]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS692893"
    }
  ],
  "type": "nucleotide"
}