{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA229311",
  "communityStandardTitle": [
    "NM_000277.3(PAH):c.1055del (p.Gly352ValfsTer?)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=108234[alleleid]",
        "alleleId": 108234,
        "preferredName": "NM_000277.3(PAH):c.1055del (p.Gly352fs)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/102498",
        "RCV": [
          "RCV000088729",
          "RCV000267428"
        ],
        "variationId": 102498
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/12-103238123-AC-A",
        "id": "12-103238123-AC-A",
        "variant": "12:103238123 AC / A"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr12:g.103238124del?assembly=hg19",
        "id": "chr12:g.103238124del"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr12:g.102844346del?assembly=hg38",
        "id": "chr12:g.102844346del"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/62516094",
        "rs": 62516094
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/12-102844345-AC-A?dataset=gnomad_r3",
        "id": "12-102844345-AC-A",
        "variant": "12:102844345 AC / A"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/12-102844345-AC-A?dataset=gnomad_r4",
        "id": "12-102844345-AC-A",
        "variant": "12:102844345 AC / A"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "12",
      "coordinates": [
        {
          "allele": "",
          "end": 102844347,
          "referenceAllele": "C",
          "start": 102844346
        }
      ],
      "hgvs": [
        "NC_000012.12:g.102844347del",
        "CM000674.2:g.102844347del"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000060"
    },
    {
      "chromosome": "12",
      "coordinates": [
        {
          "allele": "",
          "end": 103238125,
          "referenceAllele": "C",
          "start": 103238124
        }
      ],
      "hgvs": [
        "NC_000012.11:g.103238125del",
        "CM000674.1:g.103238125del"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000036"
    },
    {
      "chromosome": "12",
      "coordinates": [
        {
          "allele": "",
          "end": 101762255,
          "referenceAllele": "C",
          "start": 101762254
        }
      ],
      "hgvs": [
        "NC_000012.10:g.101762255del"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000012"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 78257,
          "referenceAllele": "G",
          "start": 78256
        }
      ],
      "hgvs": [
        "NG_008690.1:g.78257del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001168"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 119065,
          "referenceAllele": "G",
          "start": 119064
        }
      ],
      "hgvs": [
        "NG_008690.2:g.119065del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS616109"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1169,
          "referenceAllele": "G",
          "start": 1168
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008582",
      "geneNCBI_id": 5053,
      "geneSymbol": "PAH",
      "hgvs": [
        "ENST00000553106.6:c.1055del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000448059.1:p.Gly352ValfsTer?",
        "hgvsWellDefined": "ENSP00000448059.1:p.[Gly352_Leu365delinsValAsnTyrSerThrAlaTyrGlnArgSerGlnSerPheSer;Leu367_Glu381delinsTrpSerTrpArgArgGlnProSerLysIleThrLeuSerArgSer]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS760047",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000553106.6:c.1055del"
          },
          "RefSeq": {
            "hgvs": "NM_000277.3:c.1055del"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000448059.1:p.Gly352ValfsTer?"
          },
          "RefSeq": {
            "hgvs": "NP_000268.1:p.Gly352ValfsTer?"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1311,
          "referenceAllele": "G",
          "start": 1310
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008582",
      "geneNCBI_id": 5053,
      "geneSymbol": "PAH",
      "hgvs": [
        "ENST00000307000.7:c.1040del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000303500.2:p.Gly347ValfsTer?",
        "hgvsWellDefined": "ENSP00000303500.2:p.[Gly347_Leu360delinsValAsnTyrSerThrAlaTyrGlnArgSerGlnSerPheSer;Leu362_Glu376delinsTrpSerTrpArgArgGlnProSerLysIleThrLeuSerArgSer]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS255819"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 814,
          "referenceAllele": "G",
          "start": 813
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008582",
      "geneNCBI_id": 5053,
      "geneSymbol": "PAH",
      "hgvs": [
        "ENST00000549247.6:n.814del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS367346"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 717,
          "referenceAllele": "G",
          "start": 716
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008582",
      "geneNCBI_id": 5053,
      "geneSymbol": "PAH",
      "hgvs": [
        "ENST00000551114.2:n.717del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS368468"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1528,
          "referenceAllele": "G",
          "start": 1527
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008582",
      "geneNCBI_id": 5053,
      "geneSymbol": "PAH",
      "hgvs": [
        "ENST00000553106.5:c.1055del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000448059.1:p.Gly352ValfsTer?",
        "hgvsWellDefined": "ENSP00000448059.1:p.[Gly352_Leu365delinsValAsnTyrSerThrAlaTyrGlnArgSerGlnSerPheSer;Leu367_Glu381delinsTrpSerTrpArgArgGlnProSerLysIleThrLeuSerArgSer]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS369636"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 159,
          "referenceAllele": "G",
          "start": 158
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008582",
      "geneNCBI_id": 5053,
      "geneSymbol": "PAH",
      "hgvs": [
        "ENST00000635477.1:c.159del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS408144"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 570,
          "referenceAllele": "G",
          "start": 569
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008582",
      "geneNCBI_id": 5053,
      "geneSymbol": "PAH",
      "hgvs": [
        "ENST00000635528.1:n.570del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS408159"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1527,
          "referenceAllele": "G",
          "start": 1526
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008582",
      "geneNCBI_id": 5053,
      "geneSymbol": "PAH",
      "hgvs": [
        "NM_000277.1:c.1055del"
      ],
      "proteinEffect": {
        "hgvs": "NP_000268.1:p.Gly352ValfsTer?",
        "hgvsWellDefined": "NP_000268.1:p.[Gly352_Leu365delinsValAsnTyrSerThrAlaTyrGlnArgSerGlnSerPheSer;Leu367_Glu381delinsTrpSerTrpArgArgGlnProSerLysIleThrLeuSerArgSer]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006339"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1113,
          "referenceAllele": "G",
          "start": 1112
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008582",
      "geneNCBI_id": 5053,
      "geneSymbol": "PAH",
      "hgvs": [
        "XM_011538422.1:c.998del"
      ],
      "proteinEffect": {
        "hgvs": "XP_011536724.1:p.Gly333ValfsTer?",
        "hgvsWellDefined": "XP_011536724.1:p.[Gly333_Leu346delinsValAsnTyrSerThrAlaTyrGlnArgSerGlnSerPheSer;Leu348_Glu362delinsTrpSerTrpArgArgGlnProSerLysIleThrLeuSerArgSer]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS105378"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1528,
          "referenceAllele": "G",
          "start": 1527
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008582",
      "geneNCBI_id": 5053,
      "geneSymbol": "PAH",
      "hgvs": [
        "NM_000277.2:c.1055del"
      ],
      "proteinEffect": {
        "hgvs": "NP_000268.1:p.Gly352ValfsTer?",
        "hgvsWellDefined": "NP_000268.1:p.[Gly352_Leu365delinsValAsnTyrSerThrAlaTyrGlnArgSerGlnSerPheSer;Leu367_Glu381delinsTrpSerTrpArgArgGlnProSerLysIleThrLeuSerArgSer]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS510774"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1366,
          "referenceAllele": "G",
          "start": 1365
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008582",
      "geneNCBI_id": 5053,
      "geneSymbol": "PAH",
      "hgvs": [
        "NM_001354304.1:c.1055del"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341233.1:p.Gly352ValfsTer?",
        "hgvsWellDefined": "NP_001341233.1:p.[Gly352_Leu365delinsValAsnTyrSerThrAlaTyrGlnArgSerGlnSerPheSer;Leu367_Glu381delinsTrpSerTrpArgArgGlnProSerLysIleThrLeuSerArgSer]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS522305"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1169,
          "referenceAllele": "G",
          "start": 1168
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008582",
      "geneNCBI_id": 5053,
      "geneSymbol": "PAH",
      "hgvs": [
        "NM_000277.3:c.1055del"
      ],
      "proteinEffect": {
        "hgvs": "NP_000268.1:p.Gly352ValfsTer?",
        "hgvsWellDefined": "NP_000268.1:p.[Gly352_Leu365delinsValAsnTyrSerThrAlaTyrGlnArgSerGlnSerPheSer;Leu367_Glu381delinsTrpSerTrpArgArgGlnProSerLysIleThrLeuSerArgSer]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS662381",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000553106.6:c.1055del"
          },
          "RefSeq": {
            "hgvs": "NM_000277.3:c.1055del"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000448059.1:p.Gly352ValfsTer?"
          },
          "RefSeq": {
            "hgvs": "NP_000268.1:p.Gly352ValfsTer?"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1397,
          "referenceAllele": "G",
          "start": 1396
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008582",
      "geneNCBI_id": 5053,
      "geneSymbol": "PAH",
      "hgvs": [
        "NM_001354304.2:c.1055del"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341233.1:p.Gly352ValfsTer?",
        "hgvsWellDefined": "NP_001341233.1:p.[Gly352_Leu365delinsValAsnTyrSerThrAlaTyrGlnArgSerGlnSerPheSer;Leu367_Glu381delinsTrpSerTrpArgArgGlnProSerLysIleThrLeuSerArgSer]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS690142"
    }
  ],
  "type": "nucleotide"
}