{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA228615570",
  "communityStandardTitle": [
    "NM_178510.2(ANKK1):c.1683C>A (p.Tyr561Ter)"
  ],
  "externalRecords": {
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        "@id": "http://myvariant.info/v1/variant/chr11:g.113270374C>A?assembly=hg19",
        "id": "chr11:g.113270374C>A"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr11:g.113399652C>A?assembly=hg38",
        "id": "chr11:g.113399652C>A"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/2734848",
        "rs": 2734848
      }
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    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/11-113399652-C-A?dataset=gnomad_r4",
        "id": "11-113399652-C-A",
        "variant": "11:113399652 C / A"
      }
    ]
  },
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    {
      "chromosome": "11",
      "coordinates": [
        {
          "allele": "A",
          "end": 113399652,
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          "start": 113399651
        }
      ],
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        "CM000673.2:g.113399652C>A"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000059"
    },
    {
      "chromosome": "11",
      "coordinates": [
        {
          "allele": "A",
          "end": 113270374,
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          "start": 113270373
        }
      ],
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        "CM000673.1:g.113270374C>A"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000035"
    },
    {
      "chromosome": "11",
      "coordinates": [
        {
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          "end": 112775584,
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          "start": 112775583
        }
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      "referenceGenome": "NCBI36",
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    },
    {
      "coordinates": [
        {
          "allele": "A",
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        }
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        "NG_012976.1:g.16862C>A"
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      "referenceSequence": "http://reg.genome.network/refseq/RS002645"
    }
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        {
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      },
      "referenceSequence": "http://reg.genome.network/refseq/RS745062",
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        "maneStatus": "MANE Select",
        "nucleotide": {
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          },
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            "hgvs": "NM_178510.2:c.1683C>A"
          }
        },
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          }
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      }
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      },
      "referenceSequence": "http://reg.genome.network/refseq/RS255382"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3077691521",
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        {
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        }
      ],
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      ],
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      },
      "referenceSequence": "http://reg.genome.network/refseq/RS043562"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3563,
          "referenceAllele": "C",
          "start": 3562
        }
      ],
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      "geneNCBI_id": 255239,
      "geneSymbol": "ANKK1",
      "hgvs": [
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      ],
      "proteinEffect": {
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        "hgvsWellDefined": "XP_011541038.1:p.Tyr572_Ile776delinsGlyProLeuHisThrAlaAlaAlaArgGlyLysTyrLeuIleCysLysMetLeuLeuArgTyrGlyAlaSerLeuGluLeuProThrHisGlnGlyTrpThrProLeuHisLeuAlaAlaTyrLysGlyHisLeuGluIleIleHisLeuLeuAlaGluSerHisAlaAsnMetGlyAlaLeuGlyAlaValAsnTrpThrProLeuHisLeuAlaAlaArgHisGlyGluGluAlaValValSerAlaLeuLeuGlnCysGlyAlaAspProAsnAlaAlaGluGlnSerGlyTrpThrProLeuHisLeuAlaValGlnArgSerThrPheLeuSerValIleAsnLeuLeuGluHisHisAlaAsnValHisAlaArgAsnLysValGlyTrpThrProAlaHisLeuAlaAlaLeuLysGlyAsnThrAlaIleLeuLysValLeuValGluAlaGlyAlaGlnLeuAspValGlnAspGlyValSerCysThrProLeuGlnLeuAlaLeuArgSerArgLysGlnGlyIleMetSerPheLeuGluGlyLysGluProSerValAlaThrLeuGlyGlySerLysProGlyAlaGluMetGluIleTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS109665"
    },
    {
      "coordinates": [
        {
          "allele": "A",
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          "start": 3532
        }
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      "geneSymbol": "ANKK1",
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        "hgvsWellDefined": "XP_011541039.1:p.Tyr562_Ile766delinsGlyProLeuHisThrAlaAlaAlaArgGlyLysTyrLeuIleCysLysMetLeuLeuArgTyrGlyAlaSerLeuGluLeuProThrHisGlnGlyTrpThrProLeuHisLeuAlaAlaTyrLysGlyHisLeuGluIleIleHisLeuLeuAlaGluSerHisAlaAsnMetGlyAlaLeuGlyAlaValAsnTrpThrProLeuHisLeuAlaAlaArgHisGlyGluGluAlaValValSerAlaLeuLeuGlnCysGlyAlaAspProAsnAlaAlaGluGlnSerGlyTrpThrProLeuHisLeuAlaValGlnArgSerThrPheLeuSerValIleAsnLeuLeuGluHisHisAlaAsnValHisAlaArgAsnLysValGlyTrpThrProAlaHisLeuAlaAlaLeuLysGlyAsnThrAlaIleLeuLysValLeuValGluAlaGlyAlaGlnLeuAspValGlnAspGlyValSerCysThrProLeuGlnLeuAlaLeuArgSerArgLysGlnGlyIleMetSerPheLeuGluGlyLysGluProSerValAlaThrLeuGlyGlySerLysProGlyAlaGluMetGluIleTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS109666"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3840,
          "referenceAllele": "C",
          "start": 3839
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021027",
      "geneNCBI_id": 255239,
      "geneSymbol": "ANKK1",
      "hgvs": [
        "XM_011542738.1:c.1494C>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011541040.1:p.Tyr498Ter",
        "hgvsWellDefined": "XP_011541040.1:p.Tyr498_Ile702delinsGlyProLeuHisThrAlaAlaAlaArgGlyLysTyrLeuIleCysLysMetLeuLeuArgTyrGlyAlaSerLeuGluLeuProThrHisGlnGlyTrpThrProLeuHisLeuAlaAlaTyrLysGlyHisLeuGluIleIleHisLeuLeuAlaGluSerHisAlaAsnMetGlyAlaLeuGlyAlaValAsnTrpThrProLeuHisLeuAlaAlaArgHisGlyGluGluAlaValValSerAlaLeuLeuGlnCysGlyAlaAspProAsnAlaAlaGluGlnSerGlyTrpThrProLeuHisLeuAlaValGlnArgSerThrPheLeuSerValIleAsnLeuLeuGluHisHisAlaAsnValHisAlaArgAsnLysValGlyTrpThrProAlaHisLeuAlaAlaLeuLysGlyAsnThrAlaIleLeuLysValLeuValGluAlaGlyAlaGlnLeuAspValGlnAspGlyValSerCysThrProLeuGlnLeuAlaLeuArgSerArgLysGlnGlyIleMetSerPheLeuGluGlyLysGluProSerValAlaThrLeuGlyGlySerLysProGlyAlaGluMetGluIleTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS109667"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3587,
          "referenceAllele": "C",
          "start": 3586
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021027",
      "geneNCBI_id": 255239,
      "geneSymbol": "ANKK1",
      "hgvs": [
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      ],
      "proteinEffect": {
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        "hgvsWellDefined": "XP_011541038.1:p.Tyr572_Ile776delinsGlyProLeuHisThrAlaAlaAlaArgGlyLysTyrLeuIleCysLysMetLeuLeuArgTyrGlyAlaSerLeuGluLeuProThrHisGlnGlyTrpThrProLeuHisLeuAlaAlaTyrLysGlyHisLeuGluIleIleHisLeuLeuAlaGluSerHisAlaAsnMetGlyAlaLeuGlyAlaValAsnTrpThrProLeuHisLeuAlaAlaArgHisGlyGluGluAlaValValSerAlaLeuLeuGlnCysGlyAlaAspProAsnAlaAlaGluGlnSerGlyTrpThrProLeuHisLeuAlaValGlnArgSerThrPheLeuSerValIleAsnLeuLeuGluHisHisAlaAsnValHisAlaArgAsnLysValGlyTrpThrProAlaHisLeuAlaAlaLeuLysGlyAsnThrAlaIleLeuLysValLeuValGluAlaGlyAlaGlnLeuAspValGlnAspGlyValSerCysThrProLeuGlnLeuAlaLeuArgSerArgLysGlnGlyIleMetSerPheLeuGluGlyLysGluProSerValAlaThrLeuGlyGlySerLysProGlyAlaGluMetGluIleTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS554900"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3557,
          "referenceAllele": "C",
          "start": 3556
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021027",
      "geneNCBI_id": 255239,
      "geneSymbol": "ANKK1",
      "hgvs": [
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      ],
      "proteinEffect": {
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        "hgvsWellDefined": "XP_011541039.1:p.Tyr562_Ile766delinsGlyProLeuHisThrAlaAlaAlaArgGlyLysTyrLeuIleCysLysMetLeuLeuArgTyrGlyAlaSerLeuGluLeuProThrHisGlnGlyTrpThrProLeuHisLeuAlaAlaTyrLysGlyHisLeuGluIleIleHisLeuLeuAlaGluSerHisAlaAsnMetGlyAlaLeuGlyAlaValAsnTrpThrProLeuHisLeuAlaAlaArgHisGlyGluGluAlaValValSerAlaLeuLeuGlnCysGlyAlaAspProAsnAlaAlaGluGlnSerGlyTrpThrProLeuHisLeuAlaValGlnArgSerThrPheLeuSerValIleAsnLeuLeuGluHisHisAlaAsnValHisAlaArgAsnLysValGlyTrpThrProAlaHisLeuAlaAlaLeuLysGlyAsnThrAlaIleLeuLysValLeuValGluAlaGlyAlaGlnLeuAspValGlnAspGlyValSerCysThrProLeuGlnLeuAlaLeuArgSerArgLysGlnGlyIleMetSerPheLeuGluGlyLysGluProSerValAlaThrLeuGlyGlySerLysProGlyAlaGluMetGluIleTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS554901"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3845,
          "referenceAllele": "C",
          "start": 3844
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021027",
      "geneNCBI_id": 255239,
      "geneSymbol": "ANKK1",
      "hgvs": [
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      ],
      "proteinEffect": {
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        "hgvsWellDefined": "XP_011541040.1:p.Tyr498_Ile702delinsGlyProLeuHisThrAlaAlaAlaArgGlyLysTyrLeuIleCysLysMetLeuLeuArgTyrGlyAlaSerLeuGluLeuProThrHisGlnGlyTrpThrProLeuHisLeuAlaAlaTyrLysGlyHisLeuGluIleIleHisLeuLeuAlaGluSerHisAlaAsnMetGlyAlaLeuGlyAlaValAsnTrpThrProLeuHisLeuAlaAlaArgHisGlyGluGluAlaValValSerAlaLeuLeuGlnCysGlyAlaAspProAsnAlaAlaGluGlnSerGlyTrpThrProLeuHisLeuAlaValGlnArgSerThrPheLeuSerValIleAsnLeuLeuGluHisHisAlaAsnValHisAlaArgAsnLysValGlyTrpThrProAlaHisLeuAlaAlaLeuLysGlyAsnThrAlaIleLeuLysValLeuValGluAlaGlyAlaGlnLeuAspValGlnAspGlyValSerCysThrProLeuGlnLeuAlaLeuArgSerArgLysGlnGlyIleMetSerPheLeuGluGlyLysGluProSerValAlaThrLeuGlyGlySerLysProGlyAlaGluMetGluIleTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS554902"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3584,
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      ],
      "gene": "http://reg.genome.network/gene/GN021027",
      "geneNCBI_id": 255239,
      "geneSymbol": "ANKK1",
      "hgvs": [
        "XM_017017475.1:c.1713C>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_016872964.1:p.Tyr571Ter",
        "hgvsWellDefined": "XP_016872964.1:p.Tyr571_Ile775delinsGlyProLeuHisThrAlaAlaAlaArgGlyLysTyrLeuIleCysLysMetLeuLeuArgTyrGlyAlaSerLeuGluLeuProThrHisGlnGlyTrpThrProLeuHisLeuAlaAlaTyrLysGlyHisLeuGluIleIleHisLeuLeuAlaGluSerHisAlaAsnMetGlyAlaLeuGlyAlaValAsnTrpThrProLeuHisLeuAlaAlaArgHisGlyGluGluAlaValValSerAlaLeuLeuGlnCysGlyAlaAspProAsnAlaAlaGluGlnSerGlyTrpThrProLeuHisLeuAlaValGlnArgSerThrPheLeuSerValIleAsnLeuLeuGluHisHisAlaAsnValHisAlaArgAsnLysValGlyTrpThrProAlaHisLeuAlaAlaLeuLysGlyAsnThrAlaIleLeuLysValLeuValGluAlaGlyAlaGlnLeuAspValGlnAspGlyValSerCysThrProLeuGlnLeuAlaLeuArgSerArgLysGlnGlyIleMetSerPheLeuGluGlyLysGluProSerValAlaThrLeuGlyGlySerLysProGlyAlaGluMetGluIleTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS569673"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3077691521",
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        {
          "allele": "A",
          "end": 1789,
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        }
      ],
      "gene": "http://reg.genome.network/gene/GN021027",
      "geneNCBI_id": 255239,
      "geneSymbol": "ANKK1",
      "hgvs": [
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      ],
      "proteinEffect": {
        "hgvs": "NP_848605.1:p.Tyr561Ter",
        "hgvsWellDefined": "NP_848605.1:p.Tyr561_Ile765delinsGlyProLeuHisThrAlaAlaAlaArgGlyLysTyrLeuIleCysLysMetLeuLeuArgTyrGlyAlaSerLeuGluLeuProThrHisGlnGlyTrpThrProLeuHisLeuAlaAlaTyrLysGlyHisLeuGluIleIleHisLeuLeuAlaGluSerHisAlaAsnMetGlyAlaLeuGlyAlaValAsnTrpThrProLeuHisLeuAlaAlaArgHisGlyGluGluAlaValValSerAlaLeuLeuGlnCysGlyAlaAspProAsnAlaAlaGluGlnSerGlyTrpThrProLeuHisLeuAlaValGlnArgSerThrPheLeuSerValIleAsnLeuLeuGluHisHisAlaAsnValHisAlaArgAsnLysValGlyTrpThrProAlaHisLeuAlaAlaLeuLysGlyAsnThrAlaIleLeuLysValLeuValGluAlaGlyAlaGlnLeuAspValGlnAspGlyValSerCysThrProLeuGlnLeuAlaLeuArgSerArgLysGlnGlyIleMetSerPheLeuGluGlyLysGluProSerValAlaThrLeuGlyGlySerLysProGlyAlaGluMetGluIleTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS700873",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000303941.4:c.1683C>A"
          },
          "RefSeq": {
            "hgvs": "NM_178510.2:c.1683C>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000306678.3:p.Tyr561Ter"
          },
          "RefSeq": {
            "hgvs": "NP_848605.1:p.Tyr561Ter"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}