{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA117799",
  "communityStandardTitle": [
    "NM_000843.4(GRM6):c.1861C>T (p.Arg621Ter)"
  ],
  "externalRecords": {
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      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=20879[alleleid]",
        "alleleId": 20879,
        "preferredName": "NM_000843.4(GRM6):c.1861C>T (p.Arg621Ter)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/5840",
        "RCV": [
          "RCV000006197",
          "RCV000086036",
          "RCV000787608",
          "RCV001074243"
        ],
        "variationId": 5840
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/5-178413394-G-A",
        "id": "5-178413394-G-A",
        "variant": "5:178413394 G / A"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr5:g.178413394G>A?assembly=hg19",
        "id": "chr5:g.178413394G>A"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr5:g.178986393G>A?assembly=hg38",
        "id": "chr5:g.178986393G>A"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/62638214",
        "rs": 62638214
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/5-178413394-G-A?dataset=gnomad_r2_1",
        "id": "5-178413394-G-A",
        "variant": "5:178413394 G / A"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/5-178986393-G-A?dataset=gnomad_r3",
        "id": "5-178986393-G-A",
        "variant": "5:178986393 G / A"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/5-178986393-G-A?dataset=gnomad_r4",
        "id": "5-178986393-G-A",
        "variant": "5:178986393 G / A"
      }
    ]
  },
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    {
      "chromosome": "5",
      "coordinates": [
        {
          "allele": "A",
          "end": 178986393,
          "referenceAllele": "G",
          "start": 178986392
        }
      ],
      "hgvs": [
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        "CM000667.2:g.178986393G>A"
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      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000053"
    },
    {
      "chromosome": "5",
      "coordinates": [
        {
          "allele": "A",
          "end": 178413394,
          "referenceAllele": "G",
          "start": 178413393
        }
      ],
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        "CM000667.1:g.178413394G>A"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000029"
    },
    {
      "chromosome": "5",
      "coordinates": [
        {
          "allele": "A",
          "end": 178346000,
          "referenceAllele": "G",
          "start": 178345999
        }
      ],
      "hgvs": [
        "NC_000005.8:g.178346000G>A"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000005"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 13731,
          "referenceAllele": "C",
          "start": 13730
        }
      ],
      "hgvs": [
        "NG_008105.1:g.13731C>T"
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      "referenceSequence": "http://reg.genome.network/refseq/RS000850"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1922,
          "referenceAllele": "C",
          "start": 1921
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004598",
      "geneNCBI_id": 2916,
      "geneSymbol": "GRM6",
      "hgvs": [
        "ENST00000517717.3:c.1861C>T"
      ],
      "proteinEffect": {
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        "hgvsWellDefined": "ENSP00000430767.1:p.Arg621_Lys877delinsGluLeuSerTyrValLeuLeuThrGlyIlePheLeuIleTyrAlaIleThrPheLeuMetValAlaGluProGlyAlaAlaValCysAlaAlaArgArgLeuPheLeuGlyLeuGlyThrThrLeuSerTyrSerAlaLeuLeuThrLysThrAsnArgIleTyrArgIlePheGluGlnGlyLysArgSerValThrProProProPheIleSerProThrSerGlnLeuValIleThrPheSerLeuThrSerLeuGlnValValGlyMetIleAlaTrpLeuGlyAlaArgProProHisSerValIleAspTyrGluGluGlnArgThrValAspProGluGlnAlaArgGlyValLeuLysCysAspMetSerAspLeuSerLeuIleGlyCysLeuGlyTyrSerLeuLeuLeuMetValThrCysThrValTyrAlaIleLysAlaArgGlyValProGluThrPheAsnGluAlaLysProIleGlyPheThrMetTyrThrThrCysIleIleTrpLeuAlaPheValProIlePhePheGlyThrAlaGlnSerAlaGluLysIleTyrIleGlnThrThrThrLeuThrValSerLeuSerLeuSerAlaSerValSerLeuGlyMetLeuTyrValProLysThrTyrValIleLeuPheHisProGluGlnAsnValGlnLysArgLysArgSerLeuLysAlaThrSerThrValAlaAlaProProLysGlyGluAspAlaGluAlaHisLysTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS758576",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
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            "hgvs": "ENST00000517717.3:c.1861C>T"
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          "RefSeq": {
            "hgvs": "NM_000843.4:c.1861C>T"
          }
        },
        "protein": {
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          "RefSeq": {
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          }
        }
      }
    },
    {
      "coordinates": [
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          "start": 2241
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004598",
      "geneNCBI_id": 2916,
      "geneSymbol": "GRM6",
      "hgvs": [
        "ENST00000650031.1:c.1861C>T"
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      "proteinEffect": {
        "hgvs": "ENSP00000497110.1:p.Arg621Ter",
        "hgvsWellDefined": "ENSP00000497110.1:p.Arg621_Lys877delinsGluLeuSerTyrValLeuLeuThrGlyIlePheLeuIleTyrAlaIleThrPheLeuMetValAlaGluProGlyAlaAlaValCysAlaAlaArgArgLeuPheLeuGlyLeuGlyThrThrLeuSerTyrSerAlaLeuLeuThrLysThrAsnArgIleTyrArgIlePheGluGlnGlyLysArgSerValThrProProProPheIleSerProThrSerGlnLeuValIleThrPheSerLeuThrSerLeuGlnValValGlyMetIleAlaTrpLeuGlyAlaArgProProHisSerValIleAspTyrGluGluGlnArgThrValAspProGluGlnAlaArgGlyValLeuLysCysAspMetSerAspLeuSerLeuIleGlyCysLeuGlyTyrSerLeuLeuLeuMetValThrCysThrValTyrAlaIleLysAlaArgGlyValProGluThrPheAsnGluAlaLysProIleGlyPheThrMetTyrThrThrCysIleIleTrpLeuAlaPheValProIlePhePheGlyThrAlaGlnSerAlaGluLysIleTyrIleGlnThrThrThrLeuThrValSerLeuSerLeuSerAlaSerValSerLeuGlyMetLeuTyrValProLysThrTyrValIleLeuPheHisProGluGlnAsnValGlnLysArgLysArgSerLeuLysAlaThrSerThrValAlaAlaProProLysGlyGluAspAlaGluAlaHisLysTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS770895"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2040,
          "referenceAllele": "C",
          "start": 2039
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004598",
      "geneNCBI_id": 2916,
      "geneSymbol": "GRM6",
      "hgvs": [
        "ENST00000231188.9:c.1861C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000231188.5:p.Arg621Ter",
        "hgvsWellDefined": "ENSP00000231188.5:p.Arg621_Lys877delinsGluLeuSerTyrValLeuLeuThrGlyIlePheLeuIleTyrAlaIleThrPheLeuMetValAlaGluProGlyAlaAlaValCysAlaAlaArgArgLeuPheLeuGlyLeuGlyThrThrLeuSerTyrSerAlaLeuLeuThrLysThrAsnArgIleTyrArgIlePheGluGlnGlyLysArgSerValThrProProProPheIleSerProThrSerGlnLeuValIleThrPheSerLeuThrSerLeuGlnValValGlyMetIleAlaTrpLeuGlyAlaArgProProHisSerValIleAspTyrGluGluGlnArgThrValAspProGluGlnAlaArgGlyValLeuLysCysAspMetSerAspLeuSerLeuIleGlyCysLeuGlyTyrSerLeuLeuLeuMetValThrCysThrValTyrAlaIleLysAlaArgGlyValProGluThrPheAsnGluAlaLysProIleGlyPheThrMetTyrThrThrCysIleIleTrpLeuAlaPheValProIlePhePheGlyThrAlaGlnSerAlaGluLysIleTyrIleGlnThrThrThrLeuThrValSerLeuSerLeuSerAlaSerValSerLeuGlyMetLeuTyrValProLysThrTyrValIleLeuPheHisProGluGlnAsnValGlnLysArgLysArgSerLeuLysAlaThrSerThrValAlaAlaProProLysGlyGluAspAlaGluAlaHisLysTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS248781"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1900,
          "referenceAllele": "C",
          "start": 1899
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004598",
      "geneNCBI_id": 2916,
      "geneSymbol": "GRM6",
      "hgvs": [
        "ENST00000517717.1:c.1861C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000430767.1:p.Arg621Ter",
        "hgvsWellDefined": "ENSP00000430767.1:p.Arg621_Lys877delinsGluLeuSerTyrValLeuLeuThrGlyIlePheLeuIleTyrAlaIleThrPheLeuMetValAlaGluProGlyAlaAlaValCysAlaAlaArgArgLeuPheLeuGlyLeuGlyThrThrLeuSerTyrSerAlaLeuLeuThrLysThrAsnArgIleTyrArgIlePheGluGlnGlyLysArgSerValThrProProProPheIleSerProThrSerGlnLeuValIleThrPheSerLeuThrSerLeuGlnValValGlyMetIleAlaTrpLeuGlyAlaArgProProHisSerValIleAspTyrGluGluGlnArgThrValAspProGluGlnAlaArgGlyValLeuLysCysAspMetSerAspLeuSerLeuIleGlyCysLeuGlyTyrSerLeuLeuLeuMetValThrCysThrValTyrAlaIleLysAlaArgGlyValProGluThrPheAsnGluAlaLysProIleGlyPheThrMetTyrThrThrCysIleIleTrpLeuAlaPheValProIlePhePheGlyThrAlaGlnSerAlaGluLysIleTyrIleGlnThrThrThrLeuThrValSerLeuSerLeuSerAlaSerValSerLeuGlyMetLeuTyrValProLysThrTyrValIleLeuPheHisProGluGlnAsnValGlnLysArgLysArgSerLeuLysAlaThrSerThrValAlaAlaProProLysGlyGluAspAlaGluAlaHisLysTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS345331"
    },
    {
      "@id": "http://reg.genome.network/allele/PA117800",
      "coordinates": [
        {
          "allele": "T",
          "end": 2040,
          "referenceAllele": "C",
          "start": 2039
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004598",
      "geneNCBI_id": 2916,
      "geneSymbol": "GRM6",
      "hgvs": [
        "NM_000843.3:c.1861C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_000834.2:p.Arg621Ter",
        "hgvsWellDefined": "NP_000834.2:p.Arg621_Lys877delinsGluLeuSerTyrValLeuLeuThrGlyIlePheLeuIleTyrAlaIleThrPheLeuMetValAlaGluProGlyAlaAlaValCysAlaAlaArgArgLeuPheLeuGlyLeuGlyThrThrLeuSerTyrSerAlaLeuLeuThrLysThrAsnArgIleTyrArgIlePheGluGlnGlyLysArgSerValThrProProProPheIleSerProThrSerGlnLeuValIleThrPheSerLeuThrSerLeuGlnValValGlyMetIleAlaTrpLeuGlyAlaArgProProHisSerValIleAspTyrGluGluGlnArgThrValAspProGluGlnAlaArgGlyValLeuLysCysAspMetSerAspLeuSerLeuIleGlyCysLeuGlyTyrSerLeuLeuLeuMetValThrCysThrValTyrAlaIleLysAlaArgGlyValProGluThrPheAsnGluAlaLysProIleGlyPheThrMetTyrThrThrCysIleIleTrpLeuAlaPheValProIlePhePheGlyThrAlaGlnSerAlaGluLysIleTyrIleGlnThrThrThrLeuThrValSerLeuSerLeuSerAlaSerValSerLeuGlyMetLeuTyrValProLysThrTyrValIleLeuPheHisProGluGlnAsnValGlnLysArgLysArgSerLeuLysAlaThrSerThrValAlaAlaProProLysGlyGluAspAlaGluAlaHisLysTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006871"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1469,
          "endIntronDirection": "-",
          "endIntronOffset": 3353,
          "referenceAllele": "G",
          "start": 1469,
          "startIntronDirection": "-",
          "startIntronOffset": 3354
        }
      ],
      "hgvs": [
        "XR_941310.1:n.1470-3354G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS136006"
    },
    {
      "@id": "http://reg.genome.network/allele/PA117800",
      "coordinates": [
        {
          "allele": "T",
          "end": 1922,
          "referenceAllele": "C",
          "start": 1921
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004598",
      "geneNCBI_id": 2916,
      "geneSymbol": "GRM6",
      "hgvs": [
        "NM_000843.4:c.1861C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_000834.2:p.Arg621Ter",
        "hgvsWellDefined": "NP_000834.2:p.Arg621_Lys877delinsGluLeuSerTyrValLeuLeuThrGlyIlePheLeuIleTyrAlaIleThrPheLeuMetValAlaGluProGlyAlaAlaValCysAlaAlaArgArgLeuPheLeuGlyLeuGlyThrThrLeuSerTyrSerAlaLeuLeuThrLysThrAsnArgIleTyrArgIlePheGluGlnGlyLysArgSerValThrProProProPheIleSerProThrSerGlnLeuValIleThrPheSerLeuThrSerLeuGlnValValGlyMetIleAlaTrpLeuGlyAlaArgProProHisSerValIleAspTyrGluGluGlnArgThrValAspProGluGlnAlaArgGlyValLeuLysCysAspMetSerAspLeuSerLeuIleGlyCysLeuGlyTyrSerLeuLeuLeuMetValThrCysThrValTyrAlaIleLysAlaArgGlyValProGluThrPheAsnGluAlaLysProIleGlyPheThrMetTyrThrThrCysIleIleTrpLeuAlaPheValProIlePhePheGlyThrAlaGlnSerAlaGluLysIleTyrIleGlnThrThrThrLeuThrValSerLeuSerLeuSerAlaSerValSerLeuGlyMetLeuTyrValProLysThrTyrValIleLeuPheHisProGluGlnAsnValGlnLysArgLysArgSerLeuLysAlaThrSerThrValAlaAlaProProLysGlyGluAspAlaGluAlaHisLysTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS510860",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000517717.3:c.1861C>T"
          },
          "RefSeq": {
            "hgvs": "NM_000843.4:c.1861C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000430767.1:p.Arg621Ter"
          },
          "RefSeq": {
            "hgvs": "NP_000834.2:p.Arg621Ter"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}