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        "hgvsWellDefined": "XP_011522204.1:p.[Lys369_Arg381delinsGlu;Trp383_Asp384del;Lys386_Arg389delinsPheGluLeu;Met391_Glu398del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS547236"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1417,
          "referenceAllele": "",
          "start": 1417
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008574",
      "geneNCBI_id": 5048,
      "geneSymbol": "PAFAH1B1",
      "hgvs": [
        "XM_011523903.2:c.1104dup"
      ],
      "proteinEffect": {
        "hgvs": "XP_011522205.1:p.Lys369GlufsTer8",
        "hgvsWellDefined": "XP_011522205.1:p.[Lys369_Arg381delinsGlu;Trp383_Asp384del;Lys386_Arg389delinsPheGluLeu;Met391_Glu398del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS547237"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1361,
          "referenceAllele": "",
          "start": 1361
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008574",
      "geneNCBI_id": 5048,
      "geneSymbol": "PAFAH1B1",
      "hgvs": [
        "XM_017024701.1:c.1050dup"
      ],
      "proteinEffect": {
        "hgvs": "XP_016880190.1:p.Lys351GlufsTer8",
        "hgvsWellDefined": "XP_016880190.1:p.[Lys351_Arg363delinsGlu;Trp365_Asp366del;Lys368_Arg371delinsPheGluLeu;Met373_Glu380del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS575202"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1194,
          "referenceAllele": "",
          "start": 1194
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008574",
      "geneNCBI_id": 5048,
      "geneSymbol": "PAFAH1B1",
      "hgvs": [
        "XM_017024702.2:c.855dup"
      ],
      "proteinEffect": {
        "hgvs": "XP_016880191.1:p.Lys286GlufsTer8",
        "hgvsWellDefined": "XP_016880191.1:p.[Lys286_Arg298delinsGlu;Trp300_Asp301del;Lys303_Arg306delinsPheGluLeu;Met308_Glu315del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS575203"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1593,
          "referenceAllele": "",
          "start": 1593
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008574",
      "geneNCBI_id": 5048,
      "geneSymbol": "PAFAH1B1",
      "hgvs": [
        "NM_000430.4:c.1050dup"
      ],
      "proteinEffect": {
        "hgvs": "NP_000421.1:p.Lys351GlufsTer8",
        "hgvsWellDefined": "NP_000421.1:p.[Lys351_Arg363delinsGlu;Trp365_Asp366del;Lys368_Arg371delinsPheGluLeu;Met373_Glu380del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS662440",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000397195.10:c.1050dup"
          },
          "RefSeq": {
            "hgvs": "NM_000430.4:c.1050dup"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000380378.4:p.Lys351GlufsTer8"
          },
          "RefSeq": {
            "hgvs": "NP_000421.1:p.Lys351GlufsTer8"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}