{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA130294",
  "communityStandardTitle": [
    "NM_198506.5(LRIT3):c.1151C>G (p.Ser384Ter)"
  ],
  "externalRecords": {
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      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=48039[alleleid]",
        "alleleId": 48039,
        "preferredName": "NM_198506.5(LRIT3):c.1151C>G (p.Ser384Ter)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/39440",
        "RCV": [
          "RCV000032635"
        ],
        "variationId": 39440
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/4-110791056-C-G",
        "id": "4-110791056-C-G",
        "variant": "4:110791056 C / G"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr4:g.110791056C>G?assembly=hg19",
        "id": "chr4:g.110791056C>G"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr4:g.109869900C>G?assembly=hg38",
        "id": "chr4:g.109869900C>G"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/397509379",
        "rs": 397509379
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/4-110791056-C-G?dataset=gnomad_r2_1",
        "id": "4-110791056-C-G",
        "variant": "4:110791056 C / G"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/4-109869900-C-G?dataset=gnomad_r3",
        "id": "4-109869900-C-G",
        "variant": "4:109869900 C / G"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/4-109869900-C-G?dataset=gnomad_r4",
        "id": "4-109869900-C-G",
        "variant": "4:109869900 C / G"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "4",
      "coordinates": [
        {
          "allele": "G",
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          "referenceAllele": "C",
          "start": 109869899
        }
      ],
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        "NC_000004.12:g.109869900C>G",
        "CM000666.2:g.109869900C>G"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000052"
    },
    {
      "chromosome": "4",
      "coordinates": [
        {
          "allele": "G",
          "end": 110791056,
          "referenceAllele": "C",
          "start": 110791055
        }
      ],
      "hgvs": [
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        "CM000666.1:g.110791056C>G"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000028"
    },
    {
      "chromosome": "4",
      "coordinates": [
        {
          "allele": "G",
          "end": 111010505,
          "referenceAllele": "C",
          "start": 111010504
        }
      ],
      "hgvs": [
        "NC_000004.10:g.111010505C>G"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000004"
    },
    {
      "coordinates": [
        {
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          "end": 26717,
          "referenceAllele": "C",
          "start": 26716
        }
      ],
      "hgvs": [
        "NG_033249.1:g.26717C>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS005491"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1246,
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          "start": 1245
        }
      ],
      "gene": "http://reg.genome.network/gene/GN024783",
      "geneNCBI_id": 345193,
      "geneSymbol": "LRIT3",
      "hgvs": [
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      ],
      "proteinEffect": {
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        "hgvsWellDefined": "ENSP00000469759.1:p.Ser384_Cys679delinsTyrLeuTrpSerSerSerPheSerProThrSerSerPheSerAlaSerThrLeuSerProProSerThrAlaSerPheSerLeuSerProPheSerSerSerThrValSerSerThrThrThrLeuSerThrSerIleSerAlaSerThrThrMetAlaAsnLysArgSerPheGlnLeuHisGlnGlyGlyLysArgAsnLeuLysValAlaLysAsnGlySerLysLeuProProAlaSerThrSerLysLysGluGluLeuAlaLeuLeuAspGlnThrMetLeuThrGluThrAsnAlaAlaIleGluAsnLeuArgValValSerGluThrLysGluSerValThrLeuThrTrpAsnMetIleAsnThrThrHisAsnSerAlaValThrValLeuTyrSerLysTyrGlyGlyLysAspLeuLeuLeuLeuAsnAlaAspSerSerLysAsnGlnValThrIleAspGlyLeuGluProGlyGlyGlnTyrMetAlaCysValCysProLysGlyValProProGlnLysAspGlnCysIleThrPheSerThrGluArgValGluGlyAspAspSerGlnTrpSerLeuLeuLeuValValThrSerThrAlaCysValValIleLeuProLeuIleCysPheLeuLeuTyrLysValCysLysLeuGlnCysLysSerGluProPheTrpGluAspAspLeuAlaLysGluThrTyrIleGlnPheGluThrLeuPheProArgSerGlnSerValGlyGluLeuTrpThrArgSerHisArgAspAspSerGluLysLeuLeuLeuCysSerArgSerSerValGluSerGlnValThrPheLysSerGluGlySerArgProGluTyrTyrCysTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS761355",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
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          },
          "RefSeq": {
            "hgvs": "NM_198506.5:c.1151C>G"
          }
        },
        "protein": {
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          "RefSeq": {
            "hgvs": "NP_940908.3:p.Ser384Ter"
          }
        }
      }
    },
    {
      "coordinates": [
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          "end": 1366,
          "referenceAllele": "C",
          "start": 1365
        }
      ],
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      "geneNCBI_id": 345193,
      "geneSymbol": "LRIT3",
      "hgvs": [
        "ENST00000327908.3:c.602C>G"
      ],
      "proteinEffect": {
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        "hgvsWellDefined": "ENSP00000328222.3:p.Ser201_Cys496delinsTyrLeuTrpSerSerSerPheSerProThrSerSerPheSerAlaSerThrLeuSerProProSerThrAlaSerPheSerLeuSerProPheSerSerSerThrValSerSerThrThrThrLeuSerThrSerIleSerAlaSerThrThrMetAlaAsnLysArgSerPheGlnLeuHisGlnGlyGlyLysArgAsnLeuLysValAlaLysAsnGlySerLysLeuProProAlaSerThrSerLysLysGluGluLeuAlaLeuLeuAspGlnThrMetLeuThrGluThrAsnAlaAlaIleGluAsnLeuArgValValSerGluThrLysGluSerValThrLeuThrTrpAsnMetIleAsnThrThrHisAsnSerAlaValThrValLeuTyrSerLysTyrGlyGlyLysAspLeuLeuLeuLeuAsnAlaAspSerSerLysAsnGlnValThrIleAspGlyLeuGluProGlyGlyGlnTyrMetAlaCysValCysProLysGlyValProProGlnLysAspGlnCysIleThrPheSerThrGluArgValGluGlyAspAspSerGlnTrpSerLeuLeuLeuValValThrSerThrAlaCysValValIleLeuProLeuIleCysPheLeuLeuTyrLysValCysLysLeuGlnCysLysSerGluProPheTrpGluAspAspLeuAlaLysGluThrTyrIleGlnPheGluThrLeuPheProArgSerGlnSerValGlyGluLeuTrpThrArgSerHisArgAspAspSerGluLysLeuLeuLeuCysSerArgSerSerValGluSerGlnValThrPheLysSerGluGlySerArgProGluTyrTyrCysTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS258837"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1151,
          "referenceAllele": "C",
          "start": 1150
        }
      ],
      "gene": "http://reg.genome.network/gene/GN024783",
      "geneNCBI_id": 345193,
      "geneSymbol": "LRIT3",
      "hgvs": [
        "ENST00000594814.5:c.1151C>G"
      ],
      "proteinEffect": {
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        "hgvsWellDefined": "ENSP00000469759.1:p.Ser384_Cys679delinsTyrLeuTrpSerSerSerPheSerProThrSerSerPheSerAlaSerThrLeuSerProProSerThrAlaSerPheSerLeuSerProPheSerSerSerThrValSerSerThrThrThrLeuSerThrSerIleSerAlaSerThrThrMetAlaAsnLysArgSerPheGlnLeuHisGlnGlyGlyLysArgAsnLeuLysValAlaLysAsnGlySerLysLeuProProAlaSerThrSerLysLysGluGluLeuAlaLeuLeuAspGlnThrMetLeuThrGluThrAsnAlaAlaIleGluAsnLeuArgValValSerGluThrLysGluSerValThrLeuThrTrpAsnMetIleAsnThrThrHisAsnSerAlaValThrValLeuTyrSerLysTyrGlyGlyLysAspLeuLeuLeuLeuAsnAlaAspSerSerLysAsnGlnValThrIleAspGlyLeuGluProGlyGlyGlnTyrMetAlaCysValCysProLysGlyValProProGlnLysAspGlnCysIleThrPheSerThrGluArgValGluGlyAspAspSerGlnTrpSerLeuLeuLeuValValThrSerThrAlaCysValValIleLeuProLeuIleCysPheLeuLeuTyrLysValCysLysLeuGlnCysLysSerGluProPheTrpGluAspAspLeuAlaLysGluThrTyrIleGlnPheGluThrLeuPheProArgSerGlnSerValGlyGluLeuTrpThrArgSerHisArgAspAspSerGluLysLeuLeuLeuCysSerArgSerSerValGluSerGlnValThrPheLysSerGluGlySerArgProGluTyrTyrCysTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS394811"
    },
    {
      "@id": "http://reg.genome.network/allele/PA130295",
      "coordinates": [
        {
          "allele": "G",
          "end": 1169,
          "referenceAllele": "C",
          "start": 1168
        }
      ],
      "gene": "http://reg.genome.network/gene/GN024783",
      "geneNCBI_id": 345193,
      "geneSymbol": "LRIT3",
      "hgvs": [
        "NM_198506.4:c.1151C>G"
      ],
      "proteinEffect": {
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        "hgvsWellDefined": "NP_940908.3:p.Ser384_Cys679delinsTyrLeuTrpSerSerSerPheSerProThrSerSerPheSerAlaSerThrLeuSerProProSerThrAlaSerPheSerLeuSerProPheSerSerSerThrValSerSerThrThrThrLeuSerThrSerIleSerAlaSerThrThrMetAlaAsnLysArgSerPheGlnLeuHisGlnGlyGlyLysArgAsnLeuLysValAlaLysAsnGlySerLysLeuProProAlaSerThrSerLysLysGluGluLeuAlaLeuLeuAspGlnThrMetLeuThrGluThrAsnAlaAlaIleGluAsnLeuArgValValSerGluThrLysGluSerValThrLeuThrTrpAsnMetIleAsnThrThrHisAsnSerAlaValThrValLeuTyrSerLysTyrGlyGlyLysAspLeuLeuLeuLeuAsnAlaAspSerSerLysAsnGlnValThrIleAspGlyLeuGluProGlyGlyGlnTyrMetAlaCysValCysProLysGlyValProProGlnLysAspGlnCysIleThrPheSerThrGluArgValGluGlyAspAspSerGlnTrpSerLeuLeuLeuValValThrSerThrAlaCysValValIleLeuProLeuIleCysPheLeuLeuTyrLysValCysLysLeuGlnCysLysSerGluProPheTrpGluAspAspLeuAlaLysGluThrTyrIleGlnPheGluThrLeuPheProArgSerGlnSerValGlyGluLeuTrpThrArgSerHisArgAspAspSerGluLysLeuLeuLeuCysSerArgSerSerValGluSerGlnValThrPheLysSerGluGlySerArgProGluTyrTyrCysTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS044619"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1192,
          "referenceAllele": "C",
          "start": 1191
        }
      ],
      "gene": "http://reg.genome.network/gene/GN024783",
      "geneNCBI_id": 345193,
      "geneSymbol": "LRIT3",
      "hgvs": [
        "XM_005262979.2:c.602C>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_005263036.1:p.Ser201Ter",
        "hgvsWellDefined": "XP_005263036.1:p.Ser201_Cys496delinsTyrLeuTrpSerSerSerPheSerProThrSerSerPheSerAlaSerThrLeuSerProProSerThrAlaSerPheSerLeuSerProPheSerSerSerThrValSerSerThrThrThrLeuSerThrSerIleSerAlaSerThrThrMetAlaAsnLysArgSerPheGlnLeuHisGlnGlyGlyLysArgAsnLeuLysValAlaLysAsnGlySerLysLeuProProAlaSerThrSerLysLysGluGluLeuAlaLeuLeuAspGlnThrMetLeuThrGluThrAsnAlaAlaIleGluAsnLeuArgValValSerGluThrLysGluSerValThrLeuThrTrpAsnMetIleAsnThrThrHisAsnSerAlaValThrValLeuTyrSerLysTyrGlyGlyLysAspLeuLeuLeuLeuAsnAlaAspSerSerLysAsnGlnValThrIleAspGlyLeuGluProGlyGlyGlnTyrMetAlaCysValCysProLysGlyValProProGlnLysAspGlnCysIleThrPheSerThrGluArgValGluGlyAspAspSerGlnTrpSerLeuLeuLeuValValThrSerThrAlaCysValValIleLeuProLeuIleCysPheLeuLeuTyrLysValCysLysLeuGlnCysLysSerGluProPheTrpGluAspAspLeuAlaLysGluThrTyrIleGlnPheGluThrLeuPheProArgSerGlnSerValGlyGluLeuTrpThrArgSerHisArgAspAspSerGluLysLeuLeuLeuCysSerArgSerSerValGluSerGlnValThrPheLysSerGluGlySerArgProGluTyrTyrCysTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS063634"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 791,
          "referenceAllele": "C",
          "start": 790
        }
      ],
      "gene": "http://reg.genome.network/gene/GN024783",
      "geneNCBI_id": 345193,
      "geneSymbol": "LRIT3",
      "hgvs": [
        "XM_017008167.1:c.602C>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_016863656.1:p.Ser201Ter",
        "hgvsWellDefined": "XP_016863656.1:p.Ser201_Cys496delinsTyrLeuTrpSerSerSerPheSerProThrSerSerPheSerAlaSerThrLeuSerProProSerThrAlaSerPheSerLeuSerProPheSerSerSerThrValSerSerThrThrThrLeuSerThrSerIleSerAlaSerThrThrMetAlaAsnLysArgSerPheGlnLeuHisGlnGlyGlyLysArgAsnLeuLysValAlaLysAsnGlySerLysLeuProProAlaSerThrSerLysLysGluGluLeuAlaLeuLeuAspGlnThrMetLeuThrGluThrAsnAlaAlaIleGluAsnLeuArgValValSerGluThrLysGluSerValThrLeuThrTrpAsnMetIleAsnThrThrHisAsnSerAlaValThrValLeuTyrSerLysTyrGlyGlyLysAspLeuLeuLeuLeuAsnAlaAspSerSerLysAsnGlnValThrIleAspGlyLeuGluProGlyGlyGlnTyrMetAlaCysValCysProLysGlyValProProGlnLysAspGlnCysIleThrPheSerThrGluArgValGluGlyAspAspSerGlnTrpSerLeuLeuLeuValValThrSerThrAlaCysValValIleLeuProLeuIleCysPheLeuLeuTyrLysValCysLysLeuGlnCysLysSerGluProPheTrpGluAspAspLeuAlaLysGluThrTyrIleGlnPheGluThrLeuPheProArgSerGlnSerValGlyGluLeuTrpThrArgSerHisArgAspAspSerGluLysLeuLeuLeuCysSerArgSerSerValGluSerGlnValThrPheLysSerGluGlySerArgProGluTyrTyrCysTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS562724"
    },
    {
      "@id": "http://reg.genome.network/allele/PA130295",
      "coordinates": [
        {
          "allele": "G",
          "end": 1246,
          "referenceAllele": "C",
          "start": 1245
        }
      ],
      "gene": "http://reg.genome.network/gene/GN024783",
      "geneNCBI_id": 345193,
      "geneSymbol": "LRIT3",
      "hgvs": [
        "NM_198506.5:c.1151C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_940908.3:p.Ser384Ter",
        "hgvsWellDefined": "NP_940908.3:p.Ser384_Cys679delinsTyrLeuTrpSerSerSerPheSerProThrSerSerPheSerAlaSerThrLeuSerProProSerThrAlaSerPheSerLeuSerProPheSerSerSerThrValSerSerThrThrThrLeuSerThrSerIleSerAlaSerThrThrMetAlaAsnLysArgSerPheGlnLeuHisGlnGlyGlyLysArgAsnLeuLysValAlaLysAsnGlySerLysLeuProProAlaSerThrSerLysLysGluGluLeuAlaLeuLeuAspGlnThrMetLeuThrGluThrAsnAlaAlaIleGluAsnLeuArgValValSerGluThrLysGluSerValThrLeuThrTrpAsnMetIleAsnThrThrHisAsnSerAlaValThrValLeuTyrSerLysTyrGlyGlyLysAspLeuLeuLeuLeuAsnAlaAspSerSerLysAsnGlnValThrIleAspGlyLeuGluProGlyGlyGlnTyrMetAlaCysValCysProLysGlyValProProGlnLysAspGlnCysIleThrPheSerThrGluArgValGluGlyAspAspSerGlnTrpSerLeuLeuLeuValValThrSerThrAlaCysValValIleLeuProLeuIleCysPheLeuLeuTyrLysValCysLysLeuGlnCysLysSerGluProPheTrpGluAspAspLeuAlaLysGluThrTyrIleGlnPheGluThrLeuPheProArgSerGlnSerValGlyGluLeuTrpThrArgSerHisArgAspAspSerGluLysLeuLeuLeuCysSerArgSerSerValGluSerGlnValThrPheLysSerGluGlySerArgProGluTyrTyrCysTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS701356",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000594814.6:c.1151C>G"
          },
          "RefSeq": {
            "hgvs": "NM_198506.5:c.1151C>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000469759.1:p.Ser384Ter"
          },
          "RefSeq": {
            "hgvs": "NP_940908.3:p.Ser384Ter"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}