{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA340767",
  "communityStandardTitle": [
    "NM_000156.6(GAMT):c.299_311dup (p.Arg105GlyfsTer26)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=23341[alleleid]",
        "alleleId": 23341,
        "preferredName": "NM_000156.6(GAMT):c.299_311dup (p.Arg105fs)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/8302",
        "RCV": [
          "RCV000008800",
          "RCV000534459",
          "RCV001787373",
          "RCV002433449"
        ],
        "variationId": 8302
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/19-1399807-T-TGGGGCCCAGTCCC",
        "id": "19-1399807-T-TGGGGCCCAGTCCC",
        "variant": "19:1399807 T / TGGGGCCCAGTCCC"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr19:g.1399810_1399822dupGGCCCAGTCCCGG?assembly=hg19",
        "id": "chr19:g.1399810_1399822dupGGCCCAGTCCCGG"
      },
      {
        "@id": "http://myvariant.info/v1/variant/chr19:g.1399807_1399808insGGGGCCCAGTCCC?assembly=hg19",
        "id": "chr19:g.1399807_1399808insGGGGCCCAGTCCC"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr19:g.1399811_1399823dupGGCCCAGTCCCGG?assembly=hg38",
        "id": "chr19:g.1399811_1399823dupGGCCCAGTCCCGG"
      },
      {
        "@id": "http://myvariant.info/v1/variant/chr19:g.1399808_1399809insGGGGCCCAGTCCC?assembly=hg38",
        "id": "chr19:g.1399808_1399809insGGGGCCCAGTCCC"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/80338736",
        "rs": 80338736
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/19-1399807-T-TGGGGCCCAGTCCC?dataset=gnomad_r2_1",
        "id": "19-1399807-T-TGGGGCCCAGTCCC",
        "variant": "19:1399807 T / TGGGGCCCAGTCCC"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/19-1399808-T-TGGGGCCCAGTCCC?dataset=gnomad_r3",
        "id": "19-1399808-T-TGGGGCCCAGTCCC",
        "variant": "19:1399808 T / TGGGGCCCAGTCCC"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/19-1399808-T-TGGGGCCCAGTCCC?dataset=gnomad_r4",
        "id": "19-1399808-T-TGGGGCCCAGTCCC",
        "variant": "19:1399808 T / TGGGGCCCAGTCCC"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "19",
      "coordinates": [
        {
          "allele": "GGCCCAGTCCCGG",
          "end": 1399823,
          "referenceAllele": "",
          "start": 1399823
        }
      ],
      "hgvs": [
        "NC_000019.10:g.1399811_1399823dup",
        "CM000681.2:g.1399811_1399823dup"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000067"
    },
    {
      "chromosome": "19",
      "coordinates": [
        {
          "allele": "GGCCCAGTCCCGG",
          "end": 1399822,
          "referenceAllele": "",
          "start": 1399822
        }
      ],
      "hgvs": [
        "NC_000019.9:g.1399810_1399822dup",
        "CM000681.1:g.1399810_1399822dup"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000043"
    },
    {
      "chromosome": "19",
      "coordinates": [
        {
          "allele": "GGCCCAGTCCCGG",
          "end": 1350822,
          "referenceAllele": "",
          "start": 1350822
        }
      ],
      "hgvs": [
        "NC_000019.8:g.1350810_1350822dup"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000019"
    },
    {
      "coordinates": [
        {
          "allele": "GACTGGGCCCCGG",
          "end": 6745,
          "referenceAllele": "",
          "start": 6745
        }
      ],
      "hgvs": [
        "NG_009785.1:g.6733_6745dup"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001640"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "GACTGGGCCCCGG",
          "end": 377,
          "referenceAllele": "",
          "start": 377
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004136",
      "geneNCBI_id": 2593,
      "geneSymbol": "GAMT",
      "hgvs": [
        "ENST00000252288.8:c.299_311dup"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000252288.1:p.Arg105GlyfsTer26",
        "hgvsWellDefined": "ENSP00000252288.1:p.[Arg105_Trp117delinsGlyLeuGlyProThrAlaAspThrGlnGlyHisProLeu;Asp119_Ala121delinsArg;Thr123_Asp126delinsValGlyGlyCys;His128_Leu133delinsThrHisProAla]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS741526",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000252288.8:c.299_311dup"
          },
          "RefSeq": {
            "hgvs": "NM_000156.6:c.299_311dup"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000252288.1:p.Arg105GlyfsTer26"
          },
          "RefSeq": {
            "hgvs": "NP_000147.1:p.Arg105GlyfsTer26"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "GACTGGGCCCCGG",
          "end": 405,
          "referenceAllele": "",
          "start": 405
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004136",
      "geneNCBI_id": 2593,
      "geneSymbol": "GAMT",
      "hgvs": [
        "ENST00000447102.8:c.299_311dup"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000403536.2:p.Arg105GlyfsTer26",
        "hgvsWellDefined": "ENSP00000403536.2:p.[Arg105_Trp117delinsGlyLeuGlyProThrAlaAspThrGlnGlyHisProLeu;Asp119_Ala121delinsArg;Thr123_Asp126delinsValGlyGlyCys;His128_Leu133delinsThrHisProAla]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS756113"
    },
    {
      "coordinates": [
        {
          "allele": "GACTGGGCCCCGG",
          "end": 260,
          "referenceAllele": "",
          "start": 260
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004136",
      "geneNCBI_id": 2593,
      "geneSymbol": "GAMT",
      "hgvs": [
        "ENST00000640762.1:c.230_242dup"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000492031.1:p.Arg82GlyfsTer26",
        "hgvsWellDefined": "ENSP00000492031.1:p.[Arg82_Trp94delinsGlyLeuGlyProThrAlaAspThrGlnGlyHisProLeu;Asp96_Ala98delinsArg;Thr100_Asp103delinsValGlyGlyCys;His105_Leu110delinsThrHisProAla]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS765661"
    },
    {
      "coordinates": [
        {
          "allele": "GACTGGGCCCCGG",
          "end": 378,
          "referenceAllele": "",
          "start": 378
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004136",
      "geneNCBI_id": 2593,
      "geneSymbol": "GAMT",
      "hgvs": [
        "ENST00000252288.6:c.299_311dup"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000252288.1:p.Arg105GlyfsTer26",
        "hgvsWellDefined": "ENSP00000252288.1:p.[Arg105_Trp117delinsGlyLeuGlyProThrAlaAspThrGlnGlyHisProLeu;Asp119_Ala121delinsArg;Thr123_Asp126delinsValGlyGlyCys;His128_Leu133delinsThrHisProAla]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS249805"
    },
    {
      "coordinates": [
        {
          "allele": "GACTGGGCCCCGG",
          "end": 405,
          "referenceAllele": "",
          "start": 405
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004136",
      "geneNCBI_id": 2593,
      "geneSymbol": "GAMT",
      "hgvs": [
        "ENST00000447102.7:c.299_311dup"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000403536.2:p.Arg105GlyfsTer26",
        "hgvsWellDefined": "ENSP00000403536.2:p.[Arg105_Trp117delinsGlyLeuGlyProThrAlaAspThrGlnGlyHisProLeu;Asp119_Ala121delinsArg;Thr123_Asp126delinsValGlyGlyCys;His128_Leu133delinsThrHisProAla]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS299059"
    },
    {
      "coordinates": [
        {
          "allele": "GACTGGGCCCCGG",
          "end": 405,
          "referenceAllele": "",
          "start": 405
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004136",
      "geneNCBI_id": 2593,
      "geneSymbol": "GAMT",
      "hgvs": [
        "NM_000156.5:c.299_311dup"
      ],
      "proteinEffect": {
        "hgvs": "NP_000147.1:p.Arg105GlyfsTer26",
        "hgvsWellDefined": "NP_000147.1:p.[Arg105_Trp117delinsGlyLeuGlyProThrAlaAspThrGlnGlyHisProLeu;Asp119_Ala121delinsArg;Thr123_Asp126delinsValGlyGlyCys;His128_Leu133delinsThrHisProAla]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006218"
    },
    {
      "coordinates": [
        {
          "allele": "GACTGGGCCCCGG",
          "end": 405,
          "referenceAllele": "",
          "start": 405
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004136",
      "geneNCBI_id": 2593,
      "geneSymbol": "GAMT",
      "hgvs": [
        "NM_138924.2:c.299_311dup"
      ],
      "proteinEffect": {
        "hgvs": "NP_620279.1:p.Arg105GlyfsTer26",
        "hgvsWellDefined": "NP_620279.1:p.[Arg105_Trp117delinsGlyLeuGlyProThrAlaAspThrGlnGlyHisProLeu;Asp119_Ala121delinsArg;Thr123_Asp126delinsValGlyGlyCys;His128_Leu133delinsThrHisProAla]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS040908"
    },
    {
      "coordinates": [
        {
          "allele": "GACTGGGCCCCGG",
          "end": 377,
          "referenceAllele": "",
          "start": 377
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004136",
      "geneNCBI_id": 2593,
      "geneSymbol": "GAMT",
      "hgvs": [
        "NM_000156.6:c.299_311dup"
      ],
      "proteinEffect": {
        "hgvs": "NP_000147.1:p.Arg105GlyfsTer26",
        "hgvsWellDefined": "NP_000147.1:p.[Arg105_Trp117delinsGlyLeuGlyProThrAlaAspThrGlnGlyHisProLeu;Asp119_Ala121delinsArg;Thr123_Asp126delinsValGlyGlyCys;His128_Leu133delinsThrHisProAla]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS674731",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000252288.8:c.299_311dup"
          },
          "RefSeq": {
            "hgvs": "NM_000156.6:c.299_311dup"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000252288.1:p.Arg105GlyfsTer26"
          },
          "RefSeq": {
            "hgvs": "NP_000147.1:p.Arg105GlyfsTer26"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "GACTGGGCCCCGG",
          "end": 377,
          "referenceAllele": "",
          "start": 377
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004136",
      "geneNCBI_id": 2593,
      "geneSymbol": "GAMT",
      "hgvs": [
        "NM_138924.3:c.299_311dup"
      ],
      "proteinEffect": {
        "hgvs": "NP_620279.1:p.Arg105GlyfsTer26",
        "hgvsWellDefined": "NP_620279.1:p.[Arg105_Trp117delinsGlyLeuGlyProThrAlaAspThrGlnGlyHisProLeu;Asp119_Ala121delinsArg;Thr123_Asp126delinsValGlyGlyCys;His128_Leu133delinsThrHisProAla]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS699802"
    }
  ],
  "type": "nucleotide"
}