{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA16044419",
  "communityStandardTitle": [
    "NM_016239.4(MYO15A):c.10209delinsCCAGGCCCGTGCAGCTC (p.Gln3403HisfsTer?)"
  ],
  "externalRecords": {
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      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=362512[alleleid]",
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        "preferredName": "NM_016239.4(MYO15A):c.10209delinsCCAGGCCCGTGCAGCTC (p.Gln3403fs)"
      }
    ],
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      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/375671",
        "RCV": [
          "RCV000417137"
        ],
        "variationId": 375671
      }
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      {
        "@id": "http://myvariant.info/v1/variant/chr17:g.18075078delinsCCAGGCCCGTGCAGCTC?assembly=hg19",
        "id": "chr17:g.18075078delinsCCAGGCCCGTGCAGCTC"
      }
    ],
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      {
        "@id": "http://myvariant.info/v1/variant/chr17:g.18171764delinsCCAGGCCCGTGCAGCTC?assembly=hg38",
        "id": "chr17:g.18171764delinsCCAGGCCCGTGCAGCTC"
      }
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        "@id": "http://www.ncbi.nlm.nih.gov/snp/1057519601",
        "rs": 1057519601
      }
    ]
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      "coordinates": [
        {
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          "start": 18171763
        }
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      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000065"
    },
    {
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      "coordinates": [
        {
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    },
    {
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        {
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      "referenceGenome": "NCBI36",
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    },
    {
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    },
    {
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        {
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      "geneNCBI_id": 51168,
      "geneSymbol": "MYO15A",
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    {
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      "geneSymbol": "MYO15A",
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        "hgvsWellDefined": "ENSP00000495720.1:p.[Ala666_Gln667insHis;Phe668_Cys676delinsAlaArgAlaAlaLeuSerGlyAlaAla;Ser678_Pro679delinsThrLeu;His681delinsCysGln;Cys683_Gln685delinsLeuAlaSerLeu;Gln687_Leu691delinsSerThrThrMetAla;Gln693_Ser697delinsThrPheSerAlaGlnArgLeu]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS768002"
    },
    {
      "coordinates": [
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      "gene": "http://reg.genome.network/gene/GN007594",
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    },
    {
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      "geneSymbol": "MYO15A",
      "hgvs": [
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      },
      "referenceSequence": "http://reg.genome.network/refseq/RS769270",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
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            "hgvs": "ENST00000647165.2:c.10209delinsCCAGGCCCGTGCAGCTC"
          },
          "RefSeq": {
            "hgvs": "NM_016239.4:c.10209delinsCCAGGCCCGTGCAGCTC"
          }
        },
        "protein": {
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            "hgvs": "ENSP00000495481.1:p.Gln3403HisfsTer?"
          },
          "RefSeq": {
            "hgvs": "NP_057323.3:p.Gln3403HisfsTer?"
          }
        }
      }
    },
    {
      "coordinates": [
        {
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          "end": 2640,
          "referenceAllele": "G",
          "start": 2639
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      ],
      "gene": "http://reg.genome.network/gene/GN007594",
      "geneNCBI_id": 51168,
      "geneSymbol": "MYO15A",
      "hgvs": [
        "ENST00000651214.1:n.2640delinsCCAGGCCCGTGCAGCTC"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS771535"
    },
    {
      "coordinates": [
        {
          "allele": "CCAGGCCCGTGCAGCTC",
          "end": 10547,
          "referenceAllele": "G",
          "start": 10546
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007594",
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      "geneSymbol": "MYO15A",
      "hgvs": [
        "ENST00000205890.9:c.10209delinsCCAGGCCCGTGCAGCTC"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000205890.5:p.Gln3403HisfsTer?",
        "hgvsWellDefined": "ENSP00000205890.5:p.[Ala3402_Gln3403insHis;Phe3404_Leu3407delinsAlaArgAlaAla;Ala3410_Leu3411delinsGlyPro;Met3413_Pro3430delinsGlnArgLeuThrTyrValArgLeuLeuLeuLeuLeuHisProGluLeuGlnGlnHisCysCys;Ala3431_Pro3432insSer;Cys3433Leu]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247823"
    },
    {
      "coordinates": [
        {
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          "referenceAllele": "G",
          "start": 2622
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      ],
      "gene": "http://reg.genome.network/gene/GN007594",
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      "geneSymbol": "MYO15A",
      "hgvs": [
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      "proteinEffect": {
        "hgvs": "ENSP00000408800.3:p.Gln667HisfsTer?",
        "hgvsWellDefined": "ENSP00000408800.3:p.[Ala666_Gln667insHis;Phe668_Leu671delinsAlaArgAlaAla;Ala674_Leu675delinsGlyPro;Met677_Pro694delinsGlnArgLeuThrTyrValArgLeuLeuLeuLeuLeuHisProGluLeuGlnGlnHisCysCys;Ala695_Pro696insSer;Cys697Leu]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS285309"
    },
    {
      "coordinates": [
        {
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          "referenceAllele": "G",
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      "gene": "http://reg.genome.network/gene/GN007594",
      "geneNCBI_id": 51168,
      "geneSymbol": "MYO15A",
      "hgvs": [
        "ENST00000433411.7:n.1659delinsCCAGGCCCGTGCAGCTC"
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      "referenceSequence": "http://reg.genome.network/refseq/RS292527"
    },
    {
      "coordinates": [
        {
          "allele": "CCAGGCCCGTGCAGCTC",
          "end": 978,
          "referenceAllele": "G",
          "start": 977
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007594",
      "geneNCBI_id": 51168,
      "geneSymbol": "MYO15A",
      "hgvs": [
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      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS298215"
    },
    {
      "coordinates": [
        {
          "allele": "CCAGGCCCGTGCAGCTC",
          "end": 751,
          "referenceAllele": "G",
          "start": 750
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      ],
      "gene": "http://reg.genome.network/gene/GN007594",
      "geneNCBI_id": 51168,
      "geneSymbol": "MYO15A",
      "hgvs": [
        "ENST00000578575.1:c.751delinsCCAGGCCCGTGCAGCTC"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS385431"
    },
    {
      "coordinates": [
        {
          "allele": "CCAGGCCCGTGCAGCTC",
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          "start": 628
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      "gene": "http://reg.genome.network/gene/GN007594",
      "geneNCBI_id": 51168,
      "geneSymbol": "MYO15A",
      "hgvs": [
        "ENST00000579848.6:c.629delinsCCAGGCCCGTGCAGCTC"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000465910.1:p.Ser210ThrfsTer?",
        "hgvsWellDefined": "ENSP00000465910.1:p.[Ser210_Tyr218delinsThrArgProValGlnLeuPheLeuGly;Cys220Leu;Pro223Leu;Ser225_Ser227delinsMetPheGly;Arg229_Leu235delinsSerPhePhePheIleGlnSer;Gln237delinsSerAsnIleAlaVal;Leu239delinsAlaProCys]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS386032"
    },
    {
      "coordinates": [
        {
          "allele": "CCAGGCCCGTGCAGCTC",
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          "referenceAllele": "G",
          "start": 10546
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      "gene": "http://reg.genome.network/gene/GN007594",
      "geneNCBI_id": 51168,
      "geneSymbol": "MYO15A",
      "hgvs": [
        "ENST00000615845.4:c.10209delinsCCAGGCCCGTGCAGCTC"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000481642.1:p.Gln3403HisfsTer?",
        "hgvsWellDefined": "ENSP00000481642.1:p.[Ala3402_Gln3403insHis;Phe3404_Leu3407delinsAlaArgAlaAla;Ala3410_Leu3411delinsGlyPro;Met3413_Pro3430delinsGlnArgLeuThrTyrValArgLeuLeuLeuLeuLeuHisProGluLeuGlnGlnHisCysCys;Ala3431_Pro3432insSer;Cys3433Leu]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS402785"
    },
    {
      "coordinates": [
        {
          "allele": "CCAGGCCCGTGCAGCTC",
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      ],
      "gene": "http://reg.genome.network/gene/GN007594",
      "geneNCBI_id": 51168,
      "geneSymbol": "MYO15A",
      "hgvs": [
        "NM_016239.3:c.10209delinsCCAGGCCCGTGCAGCTC"
      ],
      "proteinEffect": {
        "hgvs": "NP_057323.3:p.Gln3403HisfsTer?",
        "hgvsWellDefined": "NP_057323.3:p.[Ala3402_Gln3403insHis;Phe3404_Leu3407delinsAlaArgAlaAla;Ala3410_Leu3411delinsGlyPro;Met3413_Pro3430delinsGlnArgLeuThrTyrValArgLeuLeuLeuLeuLeuHisProGluLeuGlnGlnHisCysCys;Ala3431_Pro3432insSer;Cys3433Leu]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS034550"
    },
    {
      "coordinates": [
        {
          "allele": "CCAGGCCCGTGCAGCTC",
          "end": 10843,
          "referenceAllele": "G",
          "start": 10842
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      ],
      "gene": "http://reg.genome.network/gene/GN007594",
      "geneNCBI_id": 51168,
      "geneSymbol": "MYO15A",
      "hgvs": [
        "XM_011523921.1:c.10203delinsCCAGGCCCGTGCAGCTC"
      ],
      "proteinEffect": {
        "hgvs": "XP_011522223.1:p.Gln3401HisfsTer?",
        "hgvsWellDefined": "XP_011522223.1:p.[Ala3400_Gln3401insHis;Phe3402_Leu3405delinsAlaArgAlaAla;Ala3408_Leu3409delinsGlyPro;Met3411_Pro3428delinsGlnArgLeuThrTyrValArgLeuLeuLeuLeuLeuHisProGluLeuGlnGlnHisCysCys;Ala3429_Pro3430insSer;Cys3431Leu]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS091053"
    },
    {
      "coordinates": [
        {
          "allele": "CCAGGCCCGTGCAGCTC",
          "end": 10847,
          "referenceAllele": "G",
          "start": 10846
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      ],
      "gene": "http://reg.genome.network/gene/GN007594",
      "geneNCBI_id": 51168,
      "geneSymbol": "MYO15A",
      "hgvs": [
        "XM_017024714.2:c.10149delinsCCAGGCCCGTGCAGCTC"
      ],
      "proteinEffect": {
        "hgvs": "XP_016880203.1:p.Gln3383HisfsTer?",
        "hgvsWellDefined": "XP_016880203.1:p.[Ala3382_Gln3383insHis;Phe3384_Leu3387delinsAlaArgAlaAla;Ala3390_Leu3391delinsGlyPro;Met3393_Pro3410delinsGlnArgLeuThrTyrValArgLeuLeuLeuLeuLeuHisProGluLeuGlnGlnHisCysCys;Ala3411_Pro3412insSer;Cys3413Leu]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS575212"
    },
    {
      "coordinates": [
        {
          "allele": "CCAGGCCCGTGCAGCTC",
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          "referenceAllele": "G",
          "start": 10909
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      ],
      "gene": "http://reg.genome.network/gene/GN007594",
      "geneNCBI_id": 51168,
      "geneSymbol": "MYO15A",
      "hgvs": [
        "XM_017024715.2:c.10212delinsCCAGGCCCGTGCAGCTC"
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      "proteinEffect": {
        "hgvs": "XP_016880204.1:p.Gln3404HisfsTer?",
        "hgvsWellDefined": "XP_016880204.1:p.[Ala3403_Gln3404insHis;Phe3405_Leu3408delinsAlaArgAlaAla;Ala3411_Leu3412delinsGlyPro;Met3414_Pro3431delinsGlnArgLeuThrTyrValArgLeuLeuLeuLeuLeuHisProGluLeuGlnGlnHisCysCys;Ala3432_Pro3433insSer;Cys3434Leu]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS575213"
    },
    {
      "coordinates": [
        {
          "allele": "CCAGGCCCGTGCAGCTC",
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      ],
      "gene": "http://reg.genome.network/gene/GN007594",
      "geneNCBI_id": 51168,
      "geneSymbol": "MYO15A",
      "hgvs": [
        "NM_016239.4:c.10209delinsCCAGGCCCGTGCAGCTC"
      ],
      "proteinEffect": {
        "hgvs": "NP_057323.3:p.Gln3403HisfsTer?",
        "hgvsWellDefined": "NP_057323.3:p.[Ala3402_Gln3403insHis;Phe3404_Leu3407delinsAlaArgAlaAla;Ala3410_Leu3411delinsGlyPro;Met3413_Pro3430delinsGlnArgLeuThrTyrValArgLeuLeuLeuLeuLeuHisProGluLeuGlnGlnHisCysCys;Ala3431_Pro3432insSer;Cys3433Leu]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS669046",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
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          },
          "RefSeq": {
            "hgvs": "NM_016239.4:c.10209delinsCCAGGCCCGTGCAGCTC"
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        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000495481.1:p.Gln3403HisfsTer?"
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          "RefSeq": {
            "hgvs": "NP_057323.3:p.Gln3403HisfsTer?"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}