{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA10575722",
  "communityStandardTitle": [
    "NM_003042.4(SLC6A1):c.1369_1370del (p.Gly457HisfsTer10)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=190158[alleleid]",
        "alleleId": 190158,
        "preferredName": "NM_003042.4(SLC6A1):c.1369_1370del (p.Gly457fs)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/192371",
        "RCV": [
          "RCV003444215"
        ],
        "variationId": 192371
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr3:g.11072908_11072909del?assembly=hg19",
        "id": "chr3:g.11072908_11072909del"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr3:g.11031222_11031223del?assembly=hg38",
        "id": "chr3:g.11031222_11031223del"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/876657401",
        "rs": 876657401
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "3",
      "coordinates": [
        {
          "allele": "",
          "end": 11031223,
          "referenceAllele": "GG",
          "start": 11031221
        }
      ],
      "hgvs": [
        "NC_000003.12:g.11031222_11031223del",
        "CM000665.2:g.11031222_11031223del"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000051"
    },
    {
      "chromosome": "3",
      "coordinates": [
        {
          "allele": "",
          "end": 11072909,
          "referenceAllele": "GG",
          "start": 11072907
        }
      ],
      "hgvs": [
        "NC_000003.11:g.11072908_11072909del",
        "CM000665.1:g.11072908_11072909del"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000027"
    },
    {
      "chromosome": "3",
      "coordinates": [
        {
          "allele": "",
          "end": 11047909,
          "referenceAllele": "GG",
          "start": 11047907
        }
      ],
      "hgvs": [
        "NC_000003.10:g.11047908_11047909del"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000003"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 43495,
          "referenceAllele": "GG",
          "start": 43493
        }
      ],
      "hgvs": [
        "NG_053003.1:g.43494_43495del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS617310"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1523,
          "referenceAllele": "GG",
          "start": 1521
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011042",
      "geneNCBI_id": 6529,
      "geneSymbol": "SLC6A1",
      "hgvs": [
        "ENST00000698198.1:c.1441_1442del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000513602.1:p.Gly481HisfsTer10",
        "hgvsWellDefined": "ENSP00000513602.1:p.[Gly481_Phe490delinsHis;Cys492_Gly500delinsProAla;Asn502Pro;Phe504_Glu510delinsValLeu]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS909222"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1767,
          "referenceAllele": "GG",
          "start": 1765
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011042",
      "geneNCBI_id": 6529,
      "geneSymbol": "SLC6A1",
      "hgvs": [
        "ENST00000287766.10:c.1369_1370del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000287766.4:p.Gly457HisfsTer10",
        "hgvsWellDefined": "ENSP00000287766.4:p.[Gly457_Phe466delinsHis;Cys468_Gly476delinsProAla;Asn478Pro;Phe480_Glu486delinsValLeu]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS743916",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000287766.10:c.1369_1370del"
          },
          "RefSeq": {
            "hgvs": "NM_003042.4:c.1369_1370del"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000287766.4:p.Gly457HisfsTer10"
          },
          "RefSeq": {
            "hgvs": "NP_003033.3:p.Gly457HisfsTer10"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1524,
          "referenceAllele": "GG",
          "start": 1522
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011042",
      "geneNCBI_id": 6529,
      "geneSymbol": "SLC6A1",
      "hgvs": [
        "ENST00000642201.1:c.1369_1370del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000494778.1:p.Gly457HisfsTer10",
        "hgvsWellDefined": "ENSP00000494778.1:p.[Gly457_Phe466delinsHis;Cys468_Gly476delinsProAla;Asn478Pro;Phe480_Glu486delinsValLeu]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS766613"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 2774,
          "referenceAllele": "GG",
          "start": 2772
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011042",
      "geneNCBI_id": 6529,
      "geneSymbol": "SLC6A1",
      "hgvs": [
        "ENST00000642515.1:c.1369_1370del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000496348.1:p.Gly457HisfsTer10",
        "hgvsWellDefined": "ENSP00000496348.1:p.[Gly457_Phe466delinsHis;Cys468_Gly476delinsProAla;Asn478Pro;Phe480_Glu486delinsValLeu]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS766789"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1741,
          "referenceAllele": "GG",
          "start": 1739
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011042",
      "geneNCBI_id": 6529,
      "geneSymbol": "SLC6A1",
      "hgvs": [
        "ENST00000642639.1:c.1369_1370del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000494191.1:p.Gly457HisfsTer10",
        "hgvsWellDefined": "ENSP00000494191.1:p.[Gly457_Phe466delinsHis;Cys468_Gly476delinsProAla;Asn478Pro;Phe480_Glu486delinsValLeu]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS766853"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1880,
          "referenceAllele": "GG",
          "start": 1878
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011042",
      "geneNCBI_id": 6529,
      "geneSymbol": "SLC6A1",
      "hgvs": [
        "ENST00000642735.1:c.1369_1370del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000494050.1:p.Gly457HisfsTer10",
        "hgvsWellDefined": "ENSP00000494050.1:p.[Gly457_Phe466delinsHis;Cys468_Gly476delinsProAla;Asn478Pro;Phe480_Glu486delinsValLeu]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS766902"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1726,
          "referenceAllele": "GG",
          "start": 1724
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011042",
      "geneNCBI_id": 6529,
      "geneSymbol": "SLC6A1",
      "hgvs": [
        "ENST00000642767.1:c.1369_1370del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000494346.1:p.Gly457HisfsTer10",
        "hgvsWellDefined": "ENSP00000494346.1:p.[Gly457_Phe466delinsHis;Cys468_Gly476delinsProAla;Asn478Pro;Phe480_Glu486delinsValLeu]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS766917"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1951,
          "referenceAllele": "GG",
          "start": 1949
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011042",
      "geneNCBI_id": 6529,
      "geneSymbol": "SLC6A1",
      "hgvs": [
        "ENST00000642820.1:c.1369_1370del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000495900.1:p.Gly457HisfsTer10",
        "hgvsWellDefined": "ENSP00000495900.1:p.[Gly457_Phe466delinsHis;Cys468_Gly476delinsProAla;Asn478Pro;Phe480_Glu486delinsValLeu]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS766943"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 4111,
          "referenceAllele": "GG",
          "start": 4109
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011042",
      "geneNCBI_id": 6529,
      "geneSymbol": "SLC6A1",
      "hgvs": [
        "ENST00000643396.1:c.1369_1370del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000494136.1:p.Gly457HisfsTer10",
        "hgvsWellDefined": "ENSP00000494136.1:p.[Gly457_Phe466delinsHis;Cys468_Gly476delinsProAla;Asn478Pro;Phe480_Glu486delinsValLeu]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS767260"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1819,
          "referenceAllele": "GG",
          "start": 1817
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011042",
      "geneNCBI_id": 6529,
      "geneSymbol": "SLC6A1",
      "hgvs": [
        "ENST00000643498.1:c.1369_1370del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000494997.1:p.Gly457HisfsTer10",
        "hgvsWellDefined": "ENSP00000494997.1:p.[Gly457_Phe466delinsHis;Cys468_Gly476delinsProAla;Asn478Pro;Phe480_Glu486delinsValLeu]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS767312"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1497,
          "referenceAllele": "GG",
          "start": 1495
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011042",
      "geneNCBI_id": 6529,
      "geneSymbol": "SLC6A1",
      "hgvs": [
        "ENST00000644314.1:c.1009_1010del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000493813.1:p.Gly337HisfsTer10",
        "hgvsWellDefined": "ENSP00000493813.1:p.[Gly337_Phe346delinsHis;Cys348_Gly356delinsProAla;Asn358Pro;Phe360_Glu366delinsValLeu]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS767755"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1528,
          "referenceAllele": "GG",
          "start": 1526
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011042",
      "geneNCBI_id": 6529,
      "geneSymbol": "SLC6A1",
      "hgvs": [
        "ENST00000644803.1:c.1396_1397del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000494469.1:p.Gly466HisfsTer10",
        "hgvsWellDefined": "ENSP00000494469.1:p.[Gly466_Phe475delinsHis;Cys477_Gly485delinsProAla;Asn487Pro;Phe489_Glu495delinsValLeu]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS768006"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1810,
          "referenceAllele": "GG",
          "start": 1808
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011042",
      "geneNCBI_id": 6529,
      "geneSymbol": "SLC6A1",
      "hgvs": [
        "ENST00000645029.1:c.1369_1370del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000496171.1:p.Gly457HisfsTer10",
        "hgvsWellDefined": "ENSP00000496171.1:p.[Gly457_Phe466delinsHis;Cys468_Gly476delinsProAla;Asn478Pro;Phe480_Glu486delinsValLeu]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS768132"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1918,
          "referenceAllele": "GG",
          "start": 1916
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011042",
      "geneNCBI_id": 6529,
      "geneSymbol": "SLC6A1",
      "hgvs": [
        "ENST00000645054.1:c.1369_1370del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000495751.1:p.Gly457HisfsTer10",
        "hgvsWellDefined": "ENSP00000495751.1:p.[Gly457_Phe466delinsHis;Cys468_Gly476delinsProAla;Asn478Pro;Phe480_Glu486delinsValLeu]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS768145"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1319,
          "referenceAllele": "GG",
          "start": 1317
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011042",
      "geneNCBI_id": 6529,
      "geneSymbol": "SLC6A1",
      "hgvs": [
        "ENST00000645281.1:c.835_836del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000493746.1:p.Gly279HisfsTer10",
        "hgvsWellDefined": "ENSP00000493746.1:p.[Gly279_Phe288delinsHis;Cys290_Gly298delinsProAla;Asn300Pro;Phe302_Glu308delinsValLeu]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS768265"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1667,
          "referenceAllele": "GG",
          "start": 1665
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011042",
      "geneNCBI_id": 6529,
      "geneSymbol": "SLC6A1",
      "hgvs": [
        "ENST00000645575.1:c.*752_*753del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000493666.1:n.*752_*753del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS768438"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1691,
          "referenceAllele": "GG",
          "start": 1689
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011042",
      "geneNCBI_id": 6529,
      "geneSymbol": "SLC6A1",
      "hgvs": [
        "ENST00000645592.1:c.1369_1370del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000496619.1:p.Gly457HisfsTer10",
        "hgvsWellDefined": "ENSP00000496619.1:p.[Gly457_Phe466delinsHis;Cys468_Gly476delinsProAla;Asn478Pro;Phe480_Glu486delinsValLeu]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS768449"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1374,
          "referenceAllele": "GG",
          "start": 1372
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011042",
      "geneNCBI_id": 6529,
      "geneSymbol": "SLC6A1",
      "hgvs": [
        "ENST00000645776.1:c.835_836del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000495375.1:p.Gly279HisfsTer10",
        "hgvsWellDefined": "ENSP00000495375.1:p.[Gly279_Phe288delinsHis;Cys290_Gly298delinsProAla;Asn300Pro;Phe302_Glu308delinsValLeu]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS768541"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 2070,
          "referenceAllele": "GG",
          "start": 2068
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011042",
      "geneNCBI_id": 6529,
      "geneSymbol": "SLC6A1",
      "hgvs": [
        "ENST00000645974.1:c.1369_1370del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000496390.1:p.Gly457HisfsTer10",
        "hgvsWellDefined": "ENSP00000496390.1:p.[Gly457_Phe466delinsHis;Cys468_Gly476delinsProAla;Asn478Pro;Phe480_Glu486delinsValLeu]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS768632"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1164,
          "referenceAllele": "GG",
          "start": 1162
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011042",
      "geneNCBI_id": 6529,
      "geneSymbol": "SLC6A1",
      "hgvs": [
        "ENST00000645985.1:c.1163_1164del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS768638"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1632,
          "referenceAllele": "GG",
          "start": 1630
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011042",
      "geneNCBI_id": 6529,
      "geneSymbol": "SLC6A1",
      "hgvs": [
        "ENST00000646022.1:c.1369_1370del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000494134.1:p.Gly457HisfsTer10",
        "hgvsWellDefined": "ENSP00000494134.1:p.[Gly457_Phe466delinsHis;Cys468_Gly476delinsProAla;Asn478Pro;Phe480_Glu486delinsValLeu]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS768655"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1961,
          "referenceAllele": "GG",
          "start": 1959
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011042",
      "geneNCBI_id": 6529,
      "geneSymbol": "SLC6A1",
      "hgvs": [
        "ENST00000646060.1:c.1369_1370del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000496302.1:p.Gly457HisfsTer10",
        "hgvsWellDefined": "ENSP00000496302.1:p.[Gly457_Phe466delinsHis;Cys468_Gly476delinsProAla;Asn478Pro;Phe480_Glu486delinsValLeu]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS768672"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1445,
          "referenceAllele": "GG",
          "start": 1443
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011042",
      "geneNCBI_id": 6529,
      "geneSymbol": "SLC6A1",
      "hgvs": [
        "ENST00000646072.1:c.835_836del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000494002.1:p.Gly279HisfsTer10",
        "hgvsWellDefined": "ENSP00000494002.1:p.[Gly279_Phe288delinsHis;Cys290_Gly298delinsProAla;Asn300Pro;Phe302_Glu308delinsValLeu]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS768678"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1285,
          "referenceAllele": "GG",
          "start": 1283
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011042",
      "geneNCBI_id": 6529,
      "geneSymbol": "SLC6A1",
      "hgvs": [
        "ENST00000646487.1:c.946_947del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000496768.1:p.Gly316HisfsTer10",
        "hgvsWellDefined": "ENSP00000496768.1:p.[Gly316_Phe325delinsHis;Cys327_Gly335delinsProAla;Asn337Pro;Phe339_Glu345delinsValLeu]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS768902"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 2076,
          "referenceAllele": "GG",
          "start": 2074
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011042",
      "geneNCBI_id": 6529,
      "geneSymbol": "SLC6A1",
      "hgvs": [
        "ENST00000646570.1:c.1369_1370del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000496064.1:p.Gly457HisfsTer10",
        "hgvsWellDefined": "ENSP00000496064.1:p.[Gly457_Phe466delinsHis;Cys468_Gly476delinsProAla;Asn478Pro;Phe480_Glu486delinsValLeu]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS768947"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1705,
          "referenceAllele": "GG",
          "start": 1703
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011042",
      "geneNCBI_id": 6529,
      "geneSymbol": "SLC6A1",
      "hgvs": [
        "ENST00000646702.1:c.1369_1370del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000496697.1:p.Gly457HisfsTer10",
        "hgvsWellDefined": "ENSP00000496697.1:p.[Gly457_Phe466delinsHis;Cys468_Gly476delinsProAla;Asn478Pro;Phe480_Glu486delinsValLeu]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS769021"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 423,
          "referenceAllele": "GG",
          "start": 421
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011042",
      "geneNCBI_id": 6529,
      "geneSymbol": "SLC6A1",
      "hgvs": [
        "ENST00000646836.1:n.422_423del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS769092"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 3738,
          "referenceAllele": "GG",
          "start": 3736
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011042",
      "geneNCBI_id": 6529,
      "geneSymbol": "SLC6A1",
      "hgvs": [
        "ENST00000646886.1:n.3737_3738del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS769116"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1906,
          "referenceAllele": "GG",
          "start": 1904
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011042",
      "geneNCBI_id": 6529,
      "geneSymbol": "SLC6A1",
      "hgvs": [
        "ENST00000646924.1:c.1369_1370del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000493591.1:p.Gly457HisfsTer10",
        "hgvsWellDefined": "ENSP00000493591.1:p.[Gly457_Phe466delinsHis;Cys468_Gly476delinsProAla;Asn478Pro;Phe480_Glu486delinsValLeu]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS769140"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1680,
          "referenceAllele": "GG",
          "start": 1678
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011042",
      "geneNCBI_id": 6529,
      "geneSymbol": "SLC6A1",
      "hgvs": [
        "ENST00000647194.1:c.1369_1370del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000496238.1:p.Gly457HisfsTer10",
        "hgvsWellDefined": "ENSP00000496238.1:p.[Gly457_Phe466delinsHis;Cys468_Gly476delinsProAla;Asn478Pro;Phe480_Glu486delinsValLeu]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS769282"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1159,
          "endIntronDirection": "+",
          "endIntronOffset": 4864,
          "referenceAllele": "GG",
          "start": 1159,
          "startIntronDirection": "+",
          "startIntronOffset": 4862
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011042",
      "geneNCBI_id": 6529,
      "geneSymbol": "SLC6A1",
      "hgvs": [
        "ENST00000647384.1:c.1078+4863_1078+4864del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000493779.1:n.1078+4863_1078+4864del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS769382"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1791,
          "referenceAllele": "GG",
          "start": 1789
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011042",
      "geneNCBI_id": 6529,
      "geneSymbol": "SLC6A1",
      "hgvs": [
        "ENST00000287766.8:c.1369_1370del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000287766.4:p.Gly457HisfsTer10",
        "hgvsWellDefined": "ENSP00000287766.4:p.[Gly457_Phe466delinsHis;Cys468_Gly476delinsProAla;Asn478Pro;Phe480_Glu486delinsValLeu]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS253466"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1781,
          "referenceAllele": "GG",
          "start": 1779
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011042",
      "geneNCBI_id": 6529,
      "geneSymbol": "SLC6A1",
      "hgvs": [
        "NM_003042.3:c.1369_1370del"
      ],
      "proteinEffect": {
        "hgvs": "NP_003033.3:p.Gly457HisfsTer10",
        "hgvsWellDefined": "NP_003033.3:p.[Gly457_Phe466delinsHis;Cys468_Gly476delinsProAla;Asn478Pro;Phe480_Glu486delinsValLeu]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS028323"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 3138,
          "referenceAllele": "GG",
          "start": 3136
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011042",
      "geneNCBI_id": 6529,
      "geneSymbol": "SLC6A1",
      "hgvs": [
        "XM_005265410.3:c.1369_1370del"
      ],
      "proteinEffect": {
        "hgvs": "XP_005265467.1:p.Gly457HisfsTer10",
        "hgvsWellDefined": "XP_005265467.1:p.[Gly457_Phe466delinsHis;Cys468_Gly476delinsProAla;Asn478Pro;Phe480_Glu486delinsValLeu]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS064617"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 3077,
          "referenceAllele": "GG",
          "start": 3075
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011042",
      "geneNCBI_id": 6529,
      "geneSymbol": "SLC6A1",
      "hgvs": [
        "XM_005265411.3:c.1369_1370del"
      ],
      "proteinEffect": {
        "hgvs": "XP_005265468.1:p.Gly457HisfsTer10",
        "hgvsWellDefined": "XP_005265468.1:p.[Gly457_Phe466delinsHis;Cys468_Gly476delinsProAla;Asn478Pro;Phe480_Glu486delinsValLeu]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS064618"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1725,
          "referenceAllele": "GG",
          "start": 1723
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011042",
      "geneNCBI_id": 6529,
      "geneSymbol": "SLC6A1",
      "hgvs": [
        "XM_006713306.2:c.1369_1370del"
      ],
      "proteinEffect": {
        "hgvs": "XP_006713369.1:p.Gly457HisfsTer10",
        "hgvsWellDefined": "XP_006713369.1:p.[Gly457_Phe466delinsHis;Cys468_Gly476delinsProAla;Asn478Pro;Phe480_Glu486delinsValLeu]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS070098"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 3828,
          "referenceAllele": "GG",
          "start": 3826
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011042",
      "geneNCBI_id": 6529,
      "geneSymbol": "SLC6A1",
      "hgvs": [
        "XM_011534025.1:c.1369_1370del"
      ],
      "proteinEffect": {
        "hgvs": "XP_011532327.1:p.Gly457HisfsTer10",
        "hgvsWellDefined": "XP_011532327.1:p.[Gly457_Phe466delinsHis;Cys468_Gly476delinsProAla;Asn478Pro;Phe480_Glu486delinsValLeu]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS101043"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 3721,
          "referenceAllele": "GG",
          "start": 3719
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011042",
      "geneNCBI_id": 6529,
      "geneSymbol": "SLC6A1",
      "hgvs": [
        "XM_011534026.1:c.1369_1370del"
      ],
      "proteinEffect": {
        "hgvs": "XP_011532328.1:p.Gly457HisfsTer10",
        "hgvsWellDefined": "XP_011532328.1:p.[Gly457_Phe466delinsHis;Cys468_Gly476delinsProAla;Asn478Pro;Phe480_Glu486delinsValLeu]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS101044"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 3767,
          "referenceAllele": "GG",
          "start": 3765
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011042",
      "geneNCBI_id": 6529,
      "geneSymbol": "SLC6A1",
      "hgvs": [
        "XM_011534027.1:c.1369_1370del"
      ],
      "proteinEffect": {
        "hgvs": "XP_011532329.1:p.Gly457HisfsTer10",
        "hgvsWellDefined": "XP_011532329.1:p.[Gly457_Phe466delinsHis;Cys468_Gly476delinsProAla;Asn478Pro;Phe480_Glu486delinsValLeu]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS101045"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 3660,
          "referenceAllele": "GG",
          "start": 3658
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011042",
      "geneNCBI_id": 6529,
      "geneSymbol": "SLC6A1",
      "hgvs": [
        "XM_011534028.1:c.1369_1370del"
      ],
      "proteinEffect": {
        "hgvs": "XP_011532330.1:p.Gly457HisfsTer10",
        "hgvsWellDefined": "XP_011532330.1:p.[Gly457_Phe466delinsHis;Cys468_Gly476delinsProAla;Asn478Pro;Phe480_Glu486delinsValLeu]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS101046"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1720,
          "referenceAllele": "GG",
          "start": 1718
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011042",
      "geneNCBI_id": 6529,
      "geneSymbol": "SLC6A1",
      "hgvs": [
        "NM_001348250.1:c.1369_1370del"
      ],
      "proteinEffect": {
        "hgvs": "NP_001335179.1:p.Gly457HisfsTer10",
        "hgvsWellDefined": "NP_001335179.1:p.[Gly457_Phe466delinsHis;Cys468_Gly476delinsProAla;Asn478Pro;Phe480_Glu486delinsValLeu]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS518091"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1530,
          "referenceAllele": "GG",
          "start": 1528
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011042",
      "geneNCBI_id": 6529,
      "geneSymbol": "SLC6A1",
      "hgvs": [
        "NM_001348251.1:c.1009_1010del"
      ],
      "proteinEffect": {
        "hgvs": "NP_001335180.1:p.Gly337HisfsTer10",
        "hgvsWellDefined": "NP_001335180.1:p.[Gly337_Phe346delinsHis;Cys348_Gly356delinsProAla;Asn358Pro;Phe360_Glu366delinsValLeu]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS518092"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1459,
          "referenceAllele": "GG",
          "start": 1457
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011042",
      "geneNCBI_id": 6529,
      "geneSymbol": "SLC6A1",
      "hgvs": [
        "NM_001348252.1:c.835_836del"
      ],
      "proteinEffect": {
        "hgvs": "NP_001335181.1:p.Gly279HisfsTer10",
        "hgvsWellDefined": "NP_001335181.1:p.[Gly279_Phe288delinsHis;Cys290_Gly298delinsProAla;Asn300Pro;Phe302_Glu308delinsValLeu]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS518093"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1398,
          "referenceAllele": "GG",
          "start": 1396
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011042",
      "geneNCBI_id": 6529,
      "geneSymbol": "SLC6A1",
      "hgvs": [
        "NM_001348253.1:c.835_836del"
      ],
      "proteinEffect": {
        "hgvs": "NP_001335182.1:p.Gly279HisfsTer10",
        "hgvsWellDefined": "NP_001335182.1:p.[Gly279_Phe288delinsHis;Cys290_Gly298delinsProAla;Asn300Pro;Phe302_Glu308delinsValLeu]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS518094"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 3138,
          "referenceAllele": "GG",
          "start": 3136
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011042",
      "geneNCBI_id": 6529,
      "geneSymbol": "SLC6A1",
      "hgvs": [
        "XM_005265410.5:c.1369_1370del"
      ],
      "proteinEffect": {
        "hgvs": "XP_005265467.1:p.Gly457HisfsTer10",
        "hgvsWellDefined": "XP_005265467.1:p.[Gly457_Phe466delinsHis;Cys468_Gly476delinsProAla;Asn478Pro;Phe480_Glu486delinsValLeu]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS536049"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 3077,
          "referenceAllele": "GG",
          "start": 3075
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011042",
      "geneNCBI_id": 6529,
      "geneSymbol": "SLC6A1",
      "hgvs": [
        "XM_005265411.5:c.1369_1370del"
      ],
      "proteinEffect": {
        "hgvs": "XP_005265468.1:p.Gly457HisfsTer10",
        "hgvsWellDefined": "XP_005265468.1:p.[Gly457_Phe466delinsHis;Cys468_Gly476delinsProAla;Asn478Pro;Phe480_Glu486delinsValLeu]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS536050"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 3828,
          "referenceAllele": "GG",
          "start": 3826
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011042",
      "geneNCBI_id": 6529,
      "geneSymbol": "SLC6A1",
      "hgvs": [
        "XM_011534025.3:c.1369_1370del"
      ],
      "proteinEffect": {
        "hgvs": "XP_011532327.1:p.Gly457HisfsTer10",
        "hgvsWellDefined": "XP_011532327.1:p.[Gly457_Phe466delinsHis;Cys468_Gly476delinsProAla;Asn478Pro;Phe480_Glu486delinsValLeu]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS551475"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 3767,
          "referenceAllele": "GG",
          "start": 3765
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011042",
      "geneNCBI_id": 6529,
      "geneSymbol": "SLC6A1",
      "hgvs": [
        "XM_011534027.3:c.1369_1370del"
      ],
      "proteinEffect": {
        "hgvs": "XP_011532329.1:p.Gly457HisfsTer10",
        "hgvsWellDefined": "XP_011532329.1:p.[Gly457_Phe466delinsHis;Cys468_Gly476delinsProAla;Asn478Pro;Phe480_Glu486delinsValLeu]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS551476"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 2592,
          "referenceAllele": "GG",
          "start": 2590
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011042",
      "geneNCBI_id": 6529,
      "geneSymbol": "SLC6A1",
      "hgvs": [
        "XM_017007071.2:c.1369_1370del"
      ],
      "proteinEffect": {
        "hgvs": "XP_016862560.1:p.Gly457HisfsTer10",
        "hgvsWellDefined": "XP_016862560.1:p.[Gly457_Phe466delinsHis;Cys468_Gly476delinsProAla;Asn478Pro;Phe480_Glu486delinsValLeu]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS561931"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1902,
          "referenceAllele": "GG",
          "start": 1900
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011042",
      "geneNCBI_id": 6529,
      "geneSymbol": "SLC6A1",
      "hgvs": [
        "XM_017007072.2:c.1369_1370del"
      ],
      "proteinEffect": {
        "hgvs": "XP_016862561.1:p.Gly457HisfsTer10",
        "hgvsWellDefined": "XP_016862561.1:p.[Gly457_Phe466delinsHis;Cys468_Gly476delinsProAla;Asn478Pro;Phe480_Glu486delinsValLeu]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS561932"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1767,
          "referenceAllele": "GG",
          "start": 1765
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011042",
      "geneNCBI_id": 6529,
      "geneSymbol": "SLC6A1",
      "hgvs": [
        "NM_003042.4:c.1369_1370del"
      ],
      "proteinEffect": {
        "hgvs": "NP_003033.3:p.Gly457HisfsTer10",
        "hgvsWellDefined": "NP_003033.3:p.[Gly457_Phe466delinsHis;Cys468_Gly476delinsProAla;Asn478Pro;Phe480_Glu486delinsValLeu]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS665844",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000287766.10:c.1369_1370del"
          },
          "RefSeq": {
            "hgvs": "NM_003042.4:c.1369_1370del"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000287766.4:p.Gly457HisfsTer10"
          },
          "RefSeq": {
            "hgvs": "NP_003033.3:p.Gly457HisfsTer10"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1706,
          "referenceAllele": "GG",
          "start": 1704
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011042",
      "geneNCBI_id": 6529,
      "geneSymbol": "SLC6A1",
      "hgvs": [
        "NM_001348250.2:c.1369_1370del"
      ],
      "proteinEffect": {
        "hgvs": "NP_001335179.1:p.Gly457HisfsTer10",
        "hgvsWellDefined": "NP_001335179.1:p.[Gly457_Phe466delinsHis;Cys468_Gly476delinsProAla;Asn478Pro;Phe480_Glu486delinsValLeu]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS719148"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1516,
          "referenceAllele": "GG",
          "start": 1514
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011042",
      "geneNCBI_id": 6529,
      "geneSymbol": "SLC6A1",
      "hgvs": [
        "NM_001348251.2:c.1009_1010del"
      ],
      "proteinEffect": {
        "hgvs": "NP_001335180.1:p.Gly337HisfsTer10",
        "hgvsWellDefined": "NP_001335180.1:p.[Gly337_Phe346delinsHis;Cys348_Gly356delinsProAla;Asn358Pro;Phe360_Glu366delinsValLeu]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS719149"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1445,
          "referenceAllele": "GG",
          "start": 1443
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011042",
      "geneNCBI_id": 6529,
      "geneSymbol": "SLC6A1",
      "hgvs": [
        "NM_001348252.2:c.835_836del"
      ],
      "proteinEffect": {
        "hgvs": "NP_001335181.1:p.Gly279HisfsTer10",
        "hgvsWellDefined": "NP_001335181.1:p.[Gly279_Phe288delinsHis;Cys290_Gly298delinsProAla;Asn300Pro;Phe302_Glu308delinsValLeu]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS719150"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1384,
          "referenceAllele": "GG",
          "start": 1382
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011042",
      "geneNCBI_id": 6529,
      "geneSymbol": "SLC6A1",
      "hgvs": [
        "NM_001348253.2:c.835_836del"
      ],
      "proteinEffect": {
        "hgvs": "NP_001335182.1:p.Gly279HisfsTer10",
        "hgvsWellDefined": "NP_001335182.1:p.[Gly279_Phe288delinsHis;Cys290_Gly298delinsProAla;Asn300Pro;Phe302_Glu308delinsValLeu]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS719151"
    }
  ],
  "type": "nucleotide"
}