{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA8424429",
  "communityStandardTitle": [
    "NM_016239.4(MYO15A):c.5896C>T (p.Arg1966Ter)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=230729[alleleid]",
        "alleleId": 230729,
        "preferredName": "NM_016239.4(MYO15A):c.5896C>T (p.Arg1966Ter)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/228373",
        "RCV": [
          "RCV000214976",
          "RCV000762983",
          "RCV003765385"
        ],
        "variationId": 228373
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/17-18046140-C-T",
        "id": "17-18046140-C-T",
        "variant": "17:18046140 C / T"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr17:g.18046140C>T?assembly=hg19",
        "id": "chr17:g.18046140C>T"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr17:g.18142826C>T?assembly=hg38",
        "id": "chr17:g.18142826C>T"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/765468034",
        "rs": 765468034
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/17-18046140-C-T?dataset=gnomad_r2_1",
        "id": "17-18046140-C-T",
        "variant": "17:18046140 C / T"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/17-18142826-C-T?dataset=gnomad_r3",
        "id": "17-18142826-C-T",
        "variant": "17:18142826 C / T"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/17-18142826-C-T?dataset=gnomad_r4",
        "id": "17-18142826-C-T",
        "variant": "17:18142826 C / T"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "17",
      "coordinates": [
        {
          "allele": "T",
          "end": 18142826,
          "referenceAllele": "C",
          "start": 18142825
        }
      ],
      "hgvs": [
        "NC_000017.11:g.18142826C>T",
        "CM000679.2:g.18142826C>T"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000065"
    },
    {
      "chromosome": "17",
      "coordinates": [
        {
          "allele": "T",
          "end": 18046140,
          "referenceAllele": "C",
          "start": 18046139
        }
      ],
      "hgvs": [
        "NC_000017.10:g.18046140C>T",
        "CM000679.1:g.18046140C>T"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000041"
    },
    {
      "chromosome": "17",
      "coordinates": [
        {
          "allele": "T",
          "end": 17986865,
          "referenceAllele": "C",
          "start": 17986864
        }
      ],
      "hgvs": [
        "NC_000017.9:g.17986865C>T"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000017"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 39121,
          "referenceAllele": "C",
          "start": 39120
        }
      ],
      "hgvs": [
        "NG_011634.1:g.39121C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001869"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 39121,
          "referenceAllele": "C",
          "start": 39120
        }
      ],
      "hgvs": [
        "NG_011634.2:g.39121C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS673552"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 6184,
          "referenceAllele": "C",
          "start": 6183
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007594",
      "geneNCBI_id": 51168,
      "geneSymbol": "MYO15A",
      "hgvs": [
        "ENST00000647165.2:c.5896C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000495481.1:p.Arg1966Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS769270",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000647165.2:c.5896C>T"
          },
          "RefSeq": {
            "hgvs": "NM_016239.4:c.5896C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000495481.1:p.Arg1966Ter"
          },
          "RefSeq": {
            "hgvs": "NP_057323.3:p.Arg1966Ter"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 6234,
          "referenceAllele": "C",
          "start": 6233
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007594",
      "geneNCBI_id": 51168,
      "geneSymbol": "MYO15A",
      "hgvs": [
        "ENST00000205890.9:c.5896C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000205890.5:p.Arg1966Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247823"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 6234,
          "referenceAllele": "C",
          "start": 6233
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007594",
      "geneNCBI_id": 51168,
      "geneSymbol": "MYO15A",
      "hgvs": [
        "ENST00000615845.4:c.5896C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000481642.1:p.Arg1966Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS402785"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 6234,
          "referenceAllele": "C",
          "start": 6233
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007594",
      "geneNCBI_id": 51168,
      "geneSymbol": "MYO15A",
      "hgvs": [
        "NM_016239.3:c.5896C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_057323.3:p.Arg1966Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS034550"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 6549,
          "referenceAllele": "C",
          "start": 6548
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007594",
      "geneNCBI_id": 51168,
      "geneSymbol": "MYO15A",
      "hgvs": [
        "XM_011523917.1:c.5890C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011522219.1:p.Arg1964Ter",
        "hgvsWellDefined": "XP_011522219.1:p.Arg1965_Ala2307delinsTyrLeuLysGluLeuSerLysArgGluValValAlaValGlyHisLeuGluValProAlaGluLeuAlaGlyLeuLeuGlnAlaValAlaGlyLeuGlyLeuAlaGlnValProGlnValAlaProValArgThrProArgLeuGlnAlaGluProArgValThrLeuProLeuAspIleAsnAsnTyrProMetAlaLysPheValGlnCysHisPheLysGluProAlaPheGlyMetLeuThrValProLeuArgThrProLeuThrGlnLeuProAlaGluHisHisAlaGluAlaValSerIlePheLysLeuIleLeuArgPheMetGlyAspProHisLeuHisGlyAlaArgGluAsnIlePheGlyAsnTyrIleValGlnLysGlyLeuAlaValProGluLeuArgAspGluIleLeuAlaGlnLeuAlaAsnGlnValTrpHisAsnHisAsnAlaHisAsnAlaGluArgGlyTrpLeuLeuLeuAlaAlaCysLeuSerGlyPheAlaProSerProCysPheAsnLysTyrLeuLeuLysPheValSerAspTyrGlyArgAsnGlyPheGlnAlaValCysGlnHisArgLeuMetGlnAlaMetGlyArgAlaGlnGlnGlnGlySerGlyAlaAlaArgThrLeuProProThrGlnLeuGluTrpThrAlaThrTyrGluLysAlaSerMetAlaLeuAspValGlyCysPheAsnGlyCysLeuGlyThrAlaGlyThrArgMetArgThrCysProLeuAspProSerProArgSerThrCysProLysTyrLeuThrLeuMetGlyThrAlaAlaThrIleArgThrValGlnMetGlyArgLeuArgProLysGluGlyGlnGlnProThrLysSerGlnThrValLeuGluSerLeuLeuCysProThrArgGlyTrpThrAlaThrTrpIleAlaSerLeuThrLeuCysCysProThrGlyMetArgThrTrpArgSerGlnGlnProLeuProThrAlaTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS091049"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 6549,
          "referenceAllele": "C",
          "start": 6548
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007594",
      "geneNCBI_id": 51168,
      "geneSymbol": "MYO15A",
      "hgvs": [
        "XM_011523918.1:c.5890C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011522220.1:p.Arg1964Ter",
        "hgvsWellDefined": "XP_011522220.1:p.Arg1965_Val2117delinsTyrLeuLysGluLeuSerLysArgGluValValAlaValGlyHisLeuGluValProAlaGluLeuAlaGlyLeuLeuGlnAlaValAlaGlyLeuGlyLeuAlaGlnValProGlnValAlaProValArgThrProArgLeuGlnAlaGluProArgValThrLeuProLeuAspIleAsnAsnTyrProMetAlaLysPheValGlnCysHisPheLysGluProAlaPheGlyMetLeuThrValProLeuArgThrProLeuThrGlnLeuProAlaGluHisHisAlaGluAlaValSerIlePheLysLeuIleLeuArgPheMetGlyAspProHisLeuHisGlyAlaArgGluAsnIlePheGlyAsnTyrIleValGlnLysGlyLeuAlaValProGluLeuArgAspGluIleLeuAlaGlnLeuAlaAsnGlnValCysValTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS091050"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 6549,
          "referenceAllele": "C",
          "start": 6548
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007594",
      "geneNCBI_id": 51168,
      "geneSymbol": "MYO15A",
      "hgvs": [
        "XM_011523919.1:c.5890C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011522221.1:p.Arg1964Ter",
        "hgvsWellDefined": "XP_011522221.1:p.Arg1965_Pro2098delinsTyrLeuLysGluLeuSerLysArgGluValValAlaValGlyHisLeuGluValProAlaGluLeuAlaGlyLeuLeuGlnAlaValAlaGlyLeuGlyLeuAlaGlnValProGlnValAlaProValArgThrProArgLeuGlnAlaGluProArgValThrLeuProLeuAspIleAsnAsnTyrProMetAlaLysPheValGlnCysHisPheLysGluProAlaPheGlyMetLeuThrValProLeuArgThrProLeuThrGlnLeuProAlaGluHisHisAlaGluAlaValSerIlePheLysLeuProSerSerTrpGlnLysLysLysLysLysAsnSerAlaLeuGluProLeuLysAspThrLysLysArgProArgSerProTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS091051"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 6549,
          "referenceAllele": "C",
          "start": 6548
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007594",
      "geneNCBI_id": 51168,
      "geneSymbol": "MYO15A",
      "hgvs": [
        "XM_011523920.1:c.5890C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011522222.1:p.Arg1964Ter",
        "hgvsWellDefined": "XP_011522222.1:p.Arg1965_Thr2041delinsTyrLeuLysArgPheSerProSerAlaCysLeuCysPheSerLeuAlaLeuSerPheSerLeuProPheSerLeuAlaAsnLeuSerLeuProProHisLeuTrpSerGlyAlaValThrSerThrGlnGlnAlaSerCysProProCysLeuSerValAlaAlaLeuArgLysLeuAlaTrpProAlaTrpValProValValThrSerAlaCysHisSerProThrTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS091052"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 6530,
          "referenceAllele": "C",
          "start": 6529
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007594",
      "geneNCBI_id": 51168,
      "geneSymbol": "MYO15A",
      "hgvs": [
        "XM_011523921.1:c.5890C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011522223.1:p.Arg1964Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS091053"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 6549,
          "referenceAllele": "C",
          "start": 6548
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007594",
      "geneNCBI_id": 51168,
      "geneSymbol": "MYO15A",
      "hgvs": [
        "XR_934037.1:n.6549C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS129476"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 6549,
          "referenceAllele": "C",
          "start": 6548
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007594",
      "geneNCBI_id": 51168,
      "geneSymbol": "MYO15A",
      "hgvs": [
        "XR_934038.1:n.6549C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS129477"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 6549,
          "referenceAllele": "C",
          "start": 6548
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007594",
      "geneNCBI_id": 51168,
      "geneSymbol": "MYO15A",
      "hgvs": [
        "XR_934039.1:n.6549C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS129478"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 6588,
          "referenceAllele": "C",
          "start": 6587
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007594",
      "geneNCBI_id": 51168,
      "geneSymbol": "MYO15A",
      "hgvs": [
        "XM_011523918.2:c.5890C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011522220.1:p.Arg1964Ter",
        "hgvsWellDefined": "XP_011522220.1:p.Arg1965_Val2117delinsTyrLeuLysGluLeuSerLysArgGluValValAlaValGlyHisLeuGluValProAlaGluLeuAlaGlyLeuLeuGlnAlaValAlaGlyLeuGlyLeuAlaGlnValProGlnValAlaProValArgThrProArgLeuGlnAlaGluProArgValThrLeuProLeuAspIleAsnAsnTyrProMetAlaLysPheValGlnCysHisPheLysGluProAlaPheGlyMetLeuThrValProLeuArgThrProLeuThrGlnLeuProAlaGluHisHisAlaGluAlaValSerIlePheLysLeuIleLeuArgPheMetGlyAspProHisLeuHisGlyAlaArgGluAsnIlePheGlyAsnTyrIleValGlnLysGlyLeuAlaValProGluLeuArgAspGluIleLeuAlaGlnLeuAlaAsnGlnValCysValTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS547242"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 6588,
          "referenceAllele": "C",
          "start": 6587
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007594",
      "geneNCBI_id": 51168,
      "geneSymbol": "MYO15A",
      "hgvs": [
        "XM_017024714.2:c.5890C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_016880203.1:p.Arg1964Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS575212"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 6597,
          "referenceAllele": "C",
          "start": 6596
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007594",
      "geneNCBI_id": 51168,
      "geneSymbol": "MYO15A",
      "hgvs": [
        "XM_017024715.2:c.5899C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_016880204.1:p.Arg1967Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS575213"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 6588,
          "referenceAllele": "C",
          "start": 6587
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007594",
      "geneNCBI_id": 51168,
      "geneSymbol": "MYO15A",
      "hgvs": [
        "XM_024450780.1:c.5890C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_024306548.1:p.Arg1964Ter",
        "hgvsWellDefined": "XP_024306548.1:p.Arg1965_Pro2098delinsTyrLeuLysGluLeuSerLysArgGluValValAlaValGlyHisLeuGluValProAlaGluLeuAlaGlyLeuLeuGlnAlaValAlaGlyLeuGlyLeuAlaGlnValProGlnValAlaProValArgThrProArgLeuGlnAlaGluProArgValThrLeuProLeuAspIleAsnAsnTyrProMetAlaLysPheValGlnCysHisPheLysGluProAlaPheGlyMetLeuThrValProLeuArgThrProLeuThrGlnLeuProAlaGluHisHisAlaGluAlaValSerIlePheLysLeuProSerSerTrpGlnLysLysLysLysLysAsnSerAlaLeuGluProLeuLysAspThrLysLysArgProArgSerProTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS584310"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 6588,
          "referenceAllele": "C",
          "start": 6587
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007594",
      "geneNCBI_id": 51168,
      "geneSymbol": "MYO15A",
      "hgvs": [
        "XM_024450781.1:c.5890C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_024306549.1:p.Arg1964Ter",
        "hgvsWellDefined": "XP_024306549.1:p.Arg1965_Val2074delinsTyrLeuLysGluLeuSerLysArgGluValValAlaValGlyHisLeuGluValProAlaGluLeuAlaGlyLeuLeuGlnAlaValAlaGlyLeuGlyLeuAlaGlnValProGlnValAlaProValArgThrProArgLeuGlnAlaGluProArgValThrLeuProLeuAspIleAsnAsnTyrProMetAlaLysPheValGlnCysHisPheLysGluProAlaPheGlyMetLeuThrValProLeuArgThrProLeuThrGlnLeuProAlaGluHisHisAlaGluAlaValSerIlePheLysLeuValCysValTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS584311"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 6588,
          "referenceAllele": "C",
          "start": 6587
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007594",
      "geneNCBI_id": 51168,
      "geneSymbol": "MYO15A",
      "hgvs": [
        "XM_024450782.1:c.5890C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_024306550.1:p.Arg1964Ter",
        "hgvsWellDefined": "XP_024306550.1:p.Arg1965_Thr2041delinsTyrLeuLysArgPheSerProSerAlaCysLeuCysPheSerLeuAlaLeuSerPheSerLeuProPheSerLeuAlaAsnLeuSerLeuProProHisLeuTrpSerGlyAlaValThrSerThrGlnGlnAlaSerCysProProCysLeuSerValAlaAlaLeuArgLysLeuAlaTrpProAlaTrpValProValValThrSerAlaCysHisSerProThrTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS584312"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 6588,
          "referenceAllele": "C",
          "start": 6587
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007594",
      "geneNCBI_id": 51168,
      "geneSymbol": "MYO15A",
      "hgvs": [
        "XR_934039.2:n.6588C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS610570"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 6184,
          "referenceAllele": "C",
          "start": 6183
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007594",
      "geneNCBI_id": 51168,
      "geneSymbol": "MYO15A",
      "hgvs": [
        "NM_016239.4:c.5896C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_057323.3:p.Arg1966Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS669046",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000647165.2:c.5896C>T"
          },
          "RefSeq": {
            "hgvs": "NM_016239.4:c.5896C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000495481.1:p.Arg1966Ter"
          },
          "RefSeq": {
            "hgvs": "NP_057323.3:p.Arg1966Ter"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}