{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA229378",
  "communityStandardTitle": [
    "NM_000277.3(PAH):c.1196_1199del (p.Val399GlyfsTer?)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=108287[alleleid]",
        "alleleId": 108287,
        "preferredName": "NM_000277.3(PAH):c.1196_1199del (p.Val399fs)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/102551",
        "RCV": [
          "RCV000088785",
          "RCV002509214"
        ],
        "variationId": 102551
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr12:g.103237424_103237427del?assembly=hg19",
        "id": "chr12:g.103237424_103237427del"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr12:g.102843646_102843649del?assembly=hg38",
        "id": "chr12:g.102843646_102843649del"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/199475603",
        "rs": 199475603
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "12",
      "coordinates": [
        {
          "allele": "",
          "end": 102843652,
          "referenceAllele": "ACTT",
          "start": 102843648
        }
      ],
      "hgvs": [
        "NC_000012.12:g.102843649_102843652del",
        "CM000674.2:g.102843649_102843652del"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000060"
    },
    {
      "chromosome": "12",
      "coordinates": [
        {
          "allele": "",
          "end": 103237430,
          "referenceAllele": "ACTT",
          "start": 103237426
        }
      ],
      "hgvs": [
        "NC_000012.11:g.103237427_103237430del",
        "CM000674.1:g.103237427_103237430del"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000036"
    },
    {
      "chromosome": "12",
      "coordinates": [
        {
          "allele": "",
          "end": 101761560,
          "referenceAllele": "ACTT",
          "start": 101761556
        }
      ],
      "hgvs": [
        "NC_000012.10:g.101761557_101761560del"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000012"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 78957,
          "referenceAllele": "GTAA",
          "start": 78953
        }
      ],
      "hgvs": [
        "NG_008690.1:g.78954_78957del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001168"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 119765,
          "referenceAllele": "GTAA",
          "start": 119761
        }
      ],
      "hgvs": [
        "NG_008690.2:g.119762_119765del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS616109"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1313,
          "referenceAllele": "GTAA",
          "start": 1309
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008582",
      "geneNCBI_id": 5053,
      "geneSymbol": "PAH",
      "hgvs": [
        "ENST00000553106.6:c.1196_1199del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000448059.1:p.Val399GlyfsTer?",
        "hgvsWellDefined": "ENSP00000448059.1:p.[Val399_Ile406delinsGlyThrLeuLeuProGlnTyrLeuGly;Arg408_Pro409delinsSerGln;Ser411_Asp415delinsAlaThrThrHisThr;Tyr417_Gln419delinsLysGlyLeu;Ile421_Gln429delinsSerTrpThrIleProSerSer]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS760047",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000553106.6:c.1196_1199del"
          },
          "RefSeq": {
            "hgvs": "NM_000277.3:c.1196_1199del"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000448059.1:p.Val399GlyfsTer?"
          },
          "RefSeq": {
            "hgvs": "NP_000268.1:p.Val399GlyfsTer?"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1455,
          "referenceAllele": "GTAA",
          "start": 1451
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008582",
      "geneNCBI_id": 5053,
      "geneSymbol": "PAH",
      "hgvs": [
        "ENST00000307000.7:c.1181_1184del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000303500.2:p.Val394GlyfsTer?",
        "hgvsWellDefined": "ENSP00000303500.2:p.[Val394_Ile401delinsGlyThrLeuLeuProGlnTyrLeuGly;Arg403_Pro404delinsSerGln;Ser406_Asp410delinsAlaThrThrHisThr;Tyr412_Gln414delinsLysGlyLeu;Ile416_Gln424delinsSerTrpThrIleProSerSer]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS255819"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 958,
          "referenceAllele": "GTAA",
          "start": 954
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008582",
      "geneNCBI_id": 5053,
      "geneSymbol": "PAH",
      "hgvs": [
        "ENST00000549247.6:n.955_958del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS367346"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 861,
          "referenceAllele": "GTAA",
          "start": 857
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008582",
      "geneNCBI_id": 5053,
      "geneSymbol": "PAH",
      "hgvs": [
        "ENST00000551114.2:n.858_861del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS368468"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1672,
          "referenceAllele": "GTAA",
          "start": 1668
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008582",
      "geneNCBI_id": 5053,
      "geneSymbol": "PAH",
      "hgvs": [
        "ENST00000553106.5:c.1196_1199del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000448059.1:p.Val399GlyfsTer?",
        "hgvsWellDefined": "ENSP00000448059.1:p.[Val399_Ile406delinsGlyThrLeuLeuProGlnTyrLeuGly;Arg408_Pro409delinsSerGln;Ser411_Asp415delinsAlaThrThrHisThr;Tyr417_Gln419delinsLysGlyLeu;Ile421_Gln429delinsSerTrpThrIleProSerSer]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS369636"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 303,
          "referenceAllele": "GTAA",
          "start": 299
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008582",
      "geneNCBI_id": 5053,
      "geneSymbol": "PAH",
      "hgvs": [
        "ENST00000635477.1:c.300_303del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS408144"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 714,
          "referenceAllele": "GTAA",
          "start": 710
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008582",
      "geneNCBI_id": 5053,
      "geneSymbol": "PAH",
      "hgvs": [
        "ENST00000635528.1:n.711_714del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS408159"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1671,
          "referenceAllele": "GTAA",
          "start": 1667
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008582",
      "geneNCBI_id": 5053,
      "geneSymbol": "PAH",
      "hgvs": [
        "NM_000277.1:c.1196_1199del"
      ],
      "proteinEffect": {
        "hgvs": "NP_000268.1:p.Val399GlyfsTer?",
        "hgvsWellDefined": "NP_000268.1:p.[Val399_Ile406delinsGlyThrLeuLeuProGlnTyrLeuGly;Arg408_Pro409delinsSerGln;Ser411_Asp415delinsAlaThrThrHisThr;Tyr417_Gln419delinsLysGlyLeu;Ile421_Gln429delinsSerTrpThrIleProSerSer]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006339"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1257,
          "referenceAllele": "GTAA",
          "start": 1253
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008582",
      "geneNCBI_id": 5053,
      "geneSymbol": "PAH",
      "hgvs": [
        "XM_011538422.1:c.1139_1142del"
      ],
      "proteinEffect": {
        "hgvs": "XP_011536724.1:p.Val380GlyfsTer?",
        "hgvsWellDefined": "XP_011536724.1:p.[Val380_Ile387delinsGlyThrLeuLeuProGlnTyrLeuGly;Arg389_Pro390delinsSerGln;Ser392_Asp396delinsAlaThrThrHisThr;Tyr398_Gln400delinsLysGlyLeu;Ile402_Gln410delinsSerTrpThrIleProSerSer]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS105378"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1672,
          "referenceAllele": "GTAA",
          "start": 1668
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008582",
      "geneNCBI_id": 5053,
      "geneSymbol": "PAH",
      "hgvs": [
        "NM_000277.2:c.1196_1199del"
      ],
      "proteinEffect": {
        "hgvs": "NP_000268.1:p.Val399GlyfsTer?",
        "hgvsWellDefined": "NP_000268.1:p.[Val399_Ile406delinsGlyThrLeuLeuProGlnTyrLeuGly;Arg408_Pro409delinsSerGln;Ser411_Asp415delinsAlaThrThrHisThr;Tyr417_Gln419delinsLysGlyLeu;Ile421_Gln429delinsSerTrpThrIleProSerSer]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS510774"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1510,
          "referenceAllele": "GTAA",
          "start": 1506
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008582",
      "geneNCBI_id": 5053,
      "geneSymbol": "PAH",
      "hgvs": [
        "NM_001354304.1:c.1196_1199del"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341233.1:p.Val399GlyfsTer?",
        "hgvsWellDefined": "NP_001341233.1:p.[Val399_Ile406delinsGlyThrLeuLeuProGlnTyrLeuGly;Arg408_Pro409delinsSerGln;Ser411_Asp415delinsAlaThrThrHisThr;Tyr417_Gln419delinsLysGlyLeu;Ile421_Gln429delinsSerTrpThrIleProSerSer]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS522305"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1313,
          "referenceAllele": "GTAA",
          "start": 1309
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008582",
      "geneNCBI_id": 5053,
      "geneSymbol": "PAH",
      "hgvs": [
        "NM_000277.3:c.1196_1199del"
      ],
      "proteinEffect": {
        "hgvs": "NP_000268.1:p.Val399GlyfsTer?",
        "hgvsWellDefined": "NP_000268.1:p.[Val399_Ile406delinsGlyThrLeuLeuProGlnTyrLeuGly;Arg408_Pro409delinsSerGln;Ser411_Asp415delinsAlaThrThrHisThr;Tyr417_Gln419delinsLysGlyLeu;Ile421_Gln429delinsSerTrpThrIleProSerSer]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS662381",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000553106.6:c.1196_1199del"
          },
          "RefSeq": {
            "hgvs": "NM_000277.3:c.1196_1199del"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000448059.1:p.Val399GlyfsTer?"
          },
          "RefSeq": {
            "hgvs": "NP_000268.1:p.Val399GlyfsTer?"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1541,
          "referenceAllele": "GTAA",
          "start": 1537
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008582",
      "geneNCBI_id": 5053,
      "geneSymbol": "PAH",
      "hgvs": [
        "NM_001354304.2:c.1196_1199del"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341233.1:p.Val399GlyfsTer?",
        "hgvsWellDefined": "NP_001341233.1:p.[Val399_Ile406delinsGlyThrLeuLeuProGlnTyrLeuGly;Arg408_Pro409delinsSerGln;Ser411_Asp415delinsAlaThrThrHisThr;Tyr417_Gln419delinsLysGlyLeu;Ile421_Gln429delinsSerTrpThrIleProSerSer]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS690142"
    }
  ],
  "type": "nucleotide"
}