{
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  "@id": "http://reg.genome.network/allele/CA2960294302",
  "communityStandardTitle": [
    "NM_001099287.2(NIPAL4):c.458dup (p.Ser153ArgfsTer26)"
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          "referenceAllele": "",
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      "referenceSequence": "http://reg.genome.network/refseq/RS000053"
    },
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      "referenceSequence": "http://reg.genome.network/refseq/RS000029"
    },
    {
      "chromosome": "5",
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          "referenceAllele": "",
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    {
      "coordinates": [
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      "referenceSequence": "http://reg.genome.network/refseq/RS003239"
    }
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      "hgvs": [
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      "referenceSequence": "http://reg.genome.network/refseq/RS745761",
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        "maneStatus": "MANE Select",
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          "RefSeq": {
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        },
        "protein": {
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            "hgvs": "NP_001092757.2:p.Ser153ArgfsTer26"
          }
        }
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    {
      "coordinates": [
        {
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          "start": 509
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      "geneNCBI_id": 348938,
      "geneSymbol": "NIPAL4",
      "hgvs": [
        "ENST00000435489.7:c.401dup"
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        "hgvsWellDefined": "ENSP00000406456.3:p.[Ser134_Leu138delinsArgSerGluProAla;Lys140_Leu141delinsGluAla;Gly142_Cys143insLeu;Val144_Ile145delinsAspLeu;Val147_Ala148del;Ser150_Ile155delinsArgLys;Ala157_Val163delinsSerAspGlyAspThrCysSer]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS755566"
    },
    {
      "coordinates": [
        {
          "allele": "G",
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          "referenceAllele": "",
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      ],
      "gene": "http://reg.genome.network/gene/GN028018",
      "geneNCBI_id": 348938,
      "geneSymbol": "NIPAL4",
      "hgvs": [
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      "proteinEffect": {
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        "hgvsWellDefined": "ENSP00000311687.7:p.[Ser215_Leu219delinsArgSerGluProAla;Lys221_Leu222delinsGluAla;Gly223_Cys224insLeu;Val225_Ile226delinsAspLeu;Val228_Ala229del;Ser231_Ile236delinsArgLys;Ala238_Val244delinsSerAspGlyAspThrCysSer]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS256610"
    },
    {
      "coordinates": [
        {
          "allele": "G",
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          "referenceAllele": "",
          "start": 703
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      ],
      "gene": "http://reg.genome.network/gene/GN028018",
      "geneNCBI_id": 348938,
      "geneSymbol": "NIPAL4",
      "hgvs": [
        "ENST00000435489.6:c.587dup"
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      "proteinEffect": {
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        "hgvsWellDefined": "ENSP00000406456.2:p.[Ser196_Leu200delinsArgSerGluProAla;Lys202_Leu203delinsGluAla;Gly204_Cys205insLeu;Val206_Ile207delinsAspLeu;Val209_Ala210del;Ser212_Ile217delinsArgLys;Ala219_Val225delinsSerAspGlyAspThrCysSer]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS293545"
    },
    {
      "coordinates": [
        {
          "allele": "C",
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          "endIntronDirection": "+",
          "endIntronOffset": 16576,
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          "startIntronDirection": "+",
          "startIntronOffset": 16576
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      ],
      "gene": "http://reg.genome.network/gene/GN000197",
      "geneNCBI_id": 8728,
      "geneSymbol": "ADAM19",
      "hgvs": [
        "ENST00000517951.5:c.*1741+16576dup"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000428376.1:n.*1741+16576dup"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS345513"
    },
    {
      "coordinates": [
        {
          "allele": "G",
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          "referenceAllele": "",
          "start": 556
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      ],
      "gene": "http://reg.genome.network/gene/GN028018",
      "geneNCBI_id": 348938,
      "geneSymbol": "NIPAL4",
      "hgvs": [
        "ENST00000519150.1:c.556dup"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000430810.1:n.556dup"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS346449"
    },
    {
      "coordinates": [
        {
          "allele": "G",
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          "referenceAllele": "",
          "start": 760
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      ],
      "gene": "http://reg.genome.network/gene/GN028018",
      "geneNCBI_id": 348938,
      "geneSymbol": "NIPAL4",
      "hgvs": [
        "NM_001099287.1:c.644dup"
      ],
      "proteinEffect": {
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        "hgvsWellDefined": "NP_001092757.1:p.[Ser215_Leu219delinsArgSerGluProAla;Lys221_Leu222delinsGluAla;Gly223_Cys224insLeu;Val225_Ile226delinsAspLeu;Val228_Ala229del;Ser231_Ile236delinsArgLys;Ala238_Val244delinsSerAspGlyAspThrCysSer]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS010724"
    },
    {
      "coordinates": [
        {
          "allele": "G",
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          "referenceAllele": "",
          "start": 703
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      ],
      "gene": "http://reg.genome.network/gene/GN028018",
      "geneNCBI_id": 348938,
      "geneSymbol": "NIPAL4",
      "hgvs": [
        "NM_001172292.1:c.587dup"
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      "proteinEffect": {
        "hgvs": "NP_001165763.1:p.Ser196ArgfsTer26",
        "hgvsWellDefined": "NP_001165763.1:p.[Ser196_Leu200delinsArgSerGluProAla;Lys202_Leu203delinsGluAla;Gly204_Cys205insLeu;Val206_Ile207delinsAspLeu;Val209_Ala210del;Ser212_Ile217delinsArgLys;Ala219_Val225delinsSerAspGlyAspThrCysSer]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS015443"
    },
    {
      "coordinates": [
        {
          "allele": "G",
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          "referenceAllele": "",
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      ],
      "gene": "http://reg.genome.network/gene/GN028018",
      "geneNCBI_id": 348938,
      "geneSymbol": "NIPAL4",
      "hgvs": [
        "XM_011534552.1:c.149dup"
      ],
      "proteinEffect": {
        "hgvs": "XP_011532854.1:p.Ser50ArgfsTer26",
        "hgvsWellDefined": "XP_011532854.1:p.[Ser50_Leu54delinsArgSerGluProAla;Lys56_Leu57delinsGluAla;Gly58_Cys59insLeu;Val60_Ile61delinsAspLeu;Val63_Ala64del;Ser66_Ile71delinsArgLys;Ala73_Val79delinsSerAspGlyAspThrCysSer]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS101568"
    },
    {
      "coordinates": [
        {
          "allele": "G",
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          "referenceAllele": "",
          "start": 501
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      ],
      "gene": "http://reg.genome.network/gene/GN028018",
      "geneNCBI_id": 348938,
      "geneSymbol": "NIPAL4",
      "hgvs": [
        "XM_024446043.1:c.-56dup"
      ],
      "proteinEffect": {
        "hgvs": "XP_024301811.1:n.-56dup"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS579732"
    },
    {
      "coordinates": [
        {
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          "referenceAllele": "",
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      "gene": "http://reg.genome.network/gene/GN028018",
      "geneNCBI_id": 348938,
      "geneSymbol": "NIPAL4",
      "hgvs": [
        "NM_001099287.2:c.458dup"
      ],
      "proteinEffect": {
        "hgvs": "NP_001092757.2:p.Ser153ArgfsTer26",
        "hgvsWellDefined": "NP_001092757.2:p.[Ser153_Leu157delinsArgSerGluProAla;Lys159_Leu160delinsGluAla;Gly161_Cys162insLeu;Val163_Ile164delinsAspLeu;Val166_Ala167del;Ser169_Ile174delinsArgLys;Ala176_Val182delinsSerAspGlyAspThrCysSer]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS711952",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
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            "hgvs": "ENST00000311946.8:c.458dup"
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          "RefSeq": {
            "hgvs": "NM_001099287.2:c.458dup"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000311687.8:p.Ser153ArgfsTer26"
          },
          "RefSeq": {
            "hgvs": "NP_001092757.2:p.Ser153ArgfsTer26"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}