{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA136637337",
  "communityStandardTitle": [
    "NM_016356.5(DCDC2):c.383C>G (p.Ser128Ter)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=492771[alleleid]",
        "alleleId": 492771,
        "preferredName": "NM_016356.5(DCDC2):c.383C>G (p.Ser128Ter)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/501347",
        "RCV": [
          "RCV000595112",
          "RCV001722542",
          "RCV002491217"
        ],
        "variationId": 501347
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr6:g.24302238G>C?assembly=hg19",
        "id": "chr6:g.24302238G>C"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr6:g.24302010G>C?assembly=hg38",
        "id": "chr6:g.24302010G>C"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/904520404",
        "rs": 904520404
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/6-24302010-G-C?dataset=gnomad_r3",
        "id": "6-24302010-G-C",
        "variant": "6:24302010 G / C"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/6-24302010-G-C?dataset=gnomad_r4",
        "id": "6-24302010-G-C",
        "variant": "6:24302010 G / C"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "6",
      "coordinates": [
        {
          "allele": "C",
          "end": 24302010,
          "referenceAllele": "G",
          "start": 24302009
        }
      ],
      "hgvs": [
        "NC_000006.12:g.24302010G>C",
        "CM000668.2:g.24302010G>C"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000054"
    },
    {
      "chromosome": "6",
      "coordinates": [
        {
          "allele": "C",
          "end": 24302238,
          "referenceAllele": "G",
          "start": 24302237
        }
      ],
      "hgvs": [
        "NC_000006.11:g.24302238G>C",
        "CM000668.1:g.24302238G>C"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000030"
    },
    {
      "chromosome": "6",
      "coordinates": [
        {
          "allele": "C",
          "end": 24410217,
          "referenceAllele": "G",
          "start": 24410216
        }
      ],
      "hgvs": [
        "NC_000006.10:g.24410217G>C"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000006"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 61043,
          "referenceAllele": "C",
          "start": 61042
        }
      ],
      "hgvs": [
        "NG_012829.1:g.61043C>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS002562"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 86283,
          "referenceAllele": "C",
          "start": 86282
        }
      ],
      "hgvs": [
        "NG_012829.2:g.86283C>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS616189"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 692,
          "referenceAllele": "C",
          "start": 691
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018141",
      "geneNCBI_id": 51473,
      "geneSymbol": "DCDC2",
      "hgvs": [
        "ENST00000378454.8:c.383C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000367715.3:p.Ser128Ter",
        "hgvsWellDefined": "ENSP00000367715.3:p.Ser128_Ala476delinsAlaArgPheArgLysProLeuGlnGluProCysThrIlePheLeuIleAlaAsnGlyAspLeuIleAsnProAlaSerArgLeuLeuIleProArgLysThrLeuAsnGlnTrpAspHisValLeuGlnMetValThrGluLysIleThrLeuArgSerGlyAlaValHisArgLeuTyrThrLeuGluGlyLysLeuValGluSerGlyAlaGluLeuGluAsnGlyGlnPheTyrValAlaValGlyArgAspLysPheLysLysLeuProTyrSerGluLeuLeuPheAspLysSerThrMetArgArgProPheGlyGlnLysAlaSerSerLeuProProIleValGlySerArgLysSerLysGlySerGlyAsnAspArgHisSerLysSerThrValGlySerSerAspAsnSerSerProGlnProLeuLysArgLysGlyLysLysGluAspValAsnSerGluLysLeuThrLysLeuLysGlnAsnValLysLeuLysAsnSerGlnGluThrIleProAsnSerAspGluGlyIlePheLysAlaGlyAlaGluArgSerGluThrArgGlyAlaAlaGluValGlnGluAspGluAspThrGlnValGluValProValAspGlnArgProAlaGluIleValAspGluGluGluAspGlyGluLysAlaAsnLysAspAlaGluGlnLysGluAspPheSerGlyMetAsnGlyAspLeuGluGluGluGlyGlyArgGluAlaThrAspAlaProGluGlnValGluGluIleLeuAspHisSerGluGlnGlnAlaArgProAlaArgValAsnGlyGlyThrAspGluGluAsnGlyGluGluLeuGlnGlnValAsnAsnGluLeuGlnLeuValLeuAspLysGluArgLysSerGlnGlyAlaGlySerGlyGlnAspGluAlaAspValAspProGlnArgProProArgProGluValLysIleThrSerProGluGluAsnGluAsnAsnGlnGlnAsnLysAspTyrAlaAlaValAlaTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS752086",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000378454.8:c.383C>G"
          },
          "RefSeq": {
            "hgvs": "NM_016356.5:c.383C>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000367715.3:p.Ser128Ter"
          },
          "RefSeq": {
            "hgvs": "NP_057440.2:p.Ser128Ter"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 685,
          "referenceAllele": "C",
          "start": 684
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018141",
      "geneNCBI_id": 51473,
      "geneSymbol": "DCDC2",
      "hgvs": [
        "ENST00000378454.7:c.383C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000367715.3:p.Ser128Ter",
        "hgvsWellDefined": "ENSP00000367715.3:p.Ser128_Ala476delinsAlaArgPheArgLysProLeuGlnGluProCysThrIlePheLeuIleAlaAsnGlyAspLeuIleAsnProAlaSerArgLeuLeuIleProArgLysThrLeuAsnGlnTrpAspHisValLeuGlnMetValThrGluLysIleThrLeuArgSerGlyAlaValHisArgLeuTyrThrLeuGluGlyLysLeuValGluSerGlyAlaGluLeuGluAsnGlyGlnPheTyrValAlaValGlyArgAspLysPheLysLysLeuProTyrSerGluLeuLeuPheAspLysSerThrMetArgArgProPheGlyGlnLysAlaSerSerLeuProProIleValGlySerArgLysSerLysGlySerGlyAsnAspArgHisSerLysSerThrValGlySerSerAspAsnSerSerProGlnProLeuLysArgLysGlyLysLysGluAspValAsnSerGluLysLeuThrLysLeuLysGlnAsnValLysLeuLysAsnSerGlnGluThrIleProAsnSerAspGluGlyIlePheLysAlaGlyAlaGluArgSerGluThrArgGlyAlaAlaGluValGlnGluAspGluAspThrGlnValGluValProValAspGlnArgProAlaGluIleValAspGluGluGluAspGlyGluLysAlaAsnLysAspAlaGluGlnLysGluAspPheSerGlyMetAsnGlyAspLeuGluGluGluGlyGlyArgGluAlaThrAspAlaProGluGlnValGluGluIleLeuAspHisSerGluGlnGlnAlaArgProAlaArgValAsnGlyGlyThrAspGluGluAsnGlyGluGluLeuGlnGlnValAsnAsnGluLeuGlnLeuValLeuAspLysGluArgLysSerGlnGlyAlaGlySerGlyGlnAspGluAlaAspValAspProGlnArgProProArgProGluValLysIleThrSerProGluGluAsnGluAsnAsnGlnGlnAsnLysAspTyrAlaAlaValAlaTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS272037"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826209507",
      "coordinates": [
        {
          "allele": "G",
          "end": 592,
          "referenceAllele": "C",
          "start": 591
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018141",
      "geneNCBI_id": 51473,
      "geneSymbol": "DCDC2",
      "hgvs": [
        "NM_001195610.1:c.383C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001182539.1:p.Ser128Ter",
        "hgvsWellDefined": "NP_001182539.1:p.Ser128_Ala476delinsAlaArgPheArgLysProLeuGlnGluProCysThrIlePheLeuIleAlaAsnGlyAspLeuIleAsnProAlaSerArgLeuLeuIleProArgLysThrLeuAsnGlnTrpAspHisValLeuGlnMetValThrGluLysIleThrLeuArgSerGlyAlaValHisArgLeuTyrThrLeuGluGlyLysLeuValGluSerGlyAlaGluLeuGluAsnGlyGlnPheTyrValAlaValGlyArgAspLysPheLysLysLeuProTyrSerGluLeuLeuPheAspLysSerThrMetArgArgProPheGlyGlnLysAlaSerSerLeuProProIleValGlySerArgLysSerLysGlySerGlyAsnAspArgHisSerLysSerThrValGlySerSerAspAsnSerSerProGlnProLeuLysArgLysGlyLysLysGluAspValAsnSerGluLysLeuThrLysLeuLysGlnAsnValLysLeuLysAsnSerGlnGluThrIleProAsnSerAspGluGlyIlePheLysAlaGlyAlaGluArgSerGluThrArgGlyAlaAlaGluValGlnGluAspGluAspThrGlnValGluValProValAspGlnArgProAlaGluIleValAspGluGluGluAspGlyGluLysAlaAsnLysAspAlaGluGlnLysGluAspPheSerGlyMetAsnGlyAspLeuGluGluGluGlyGlyArgGluAlaThrAspAlaProGluGlnValGluGluIleLeuAspHisSerGluGlnGlnAlaArgProAlaArgValAsnGlyGlyThrAspGluGluAsnGlyGluGluLeuGlnGlnValAsnAsnGluLeuGlnLeuValLeuAspLysGluArgLysSerGlnGlyAlaGlySerGlyGlnAspGluAlaAspValAspProGlnArgProProArgProGluValLysIleThrSerProGluGluAsnGluAsnAsnGlnGlnAsnLysAspTyrAlaAlaValAlaTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS016643"
    },
    {
      "@id": "http://reg.genome.network/allele/PA658815187",
      "coordinates": [
        {
          "allele": "G",
          "end": 685,
          "referenceAllele": "C",
          "start": 684
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018141",
      "geneNCBI_id": 51473,
      "geneSymbol": "DCDC2",
      "hgvs": [
        "NM_016356.4:c.383C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_057440.2:p.Ser128Ter",
        "hgvsWellDefined": "NP_057440.2:p.Ser128_Ala476delinsAlaArgPheArgLysProLeuGlnGluProCysThrIlePheLeuIleAlaAsnGlyAspLeuIleAsnProAlaSerArgLeuLeuIleProArgLysThrLeuAsnGlnTrpAspHisValLeuGlnMetValThrGluLysIleThrLeuArgSerGlyAlaValHisArgLeuTyrThrLeuGluGlyLysLeuValGluSerGlyAlaGluLeuGluAsnGlyGlnPheTyrValAlaValGlyArgAspLysPheLysLysLeuProTyrSerGluLeuLeuPheAspLysSerThrMetArgArgProPheGlyGlnLysAlaSerSerLeuProProIleValGlySerArgLysSerLysGlySerGlyAsnAspArgHisSerLysSerThrValGlySerSerAspAsnSerSerProGlnProLeuLysArgLysGlyLysLysGluAspValAsnSerGluLysLeuThrLysLeuLysGlnAsnValLysLeuLysAsnSerGlnGluThrIleProAsnSerAspGluGlyIlePheLysAlaGlyAlaGluArgSerGluThrArgGlyAlaAlaGluValGlnGluAspGluAspThrGlnValGluValProValAspGlnArgProAlaGluIleValAspGluGluGluAspGlyGluLysAlaAsnLysAspAlaGluGlnLysGluAspPheSerGlyMetAsnGlyAspLeuGluGluGluGlyGlyArgGluAlaThrAspAlaProGluGlnValGluGluIleLeuAspHisSerGluGlnGlnAlaArgProAlaArgValAsnGlyGlyThrAspGluGluAsnGlyGluGluLeuGlnGlnValAsnAsnGluLeuGlnLeuValLeuAspLysGluArgLysSerGlnGlyAlaGlySerGlyGlnAspGluAlaAspValAspProGlnArgProProArgProGluValLysIleThrSerProGluGluAsnGluAsnAsnGlnGlnAsnLysAspTyrAlaAlaValAlaTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS034641"
    },
    {
      "@id": "http://reg.genome.network/allele/PA658815187",
      "coordinates": [
        {
          "allele": "G",
          "end": 692,
          "referenceAllele": "C",
          "start": 691
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018141",
      "geneNCBI_id": 51473,
      "geneSymbol": "DCDC2",
      "hgvs": [
        "NM_016356.5:c.383C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_057440.2:p.Ser128Ter",
        "hgvsWellDefined": "NP_057440.2:p.Ser128_Ala476delinsAlaArgPheArgLysProLeuGlnGluProCysThrIlePheLeuIleAlaAsnGlyAspLeuIleAsnProAlaSerArgLeuLeuIleProArgLysThrLeuAsnGlnTrpAspHisValLeuGlnMetValThrGluLysIleThrLeuArgSerGlyAlaValHisArgLeuTyrThrLeuGluGlyLysLeuValGluSerGlyAlaGluLeuGluAsnGlyGlnPheTyrValAlaValGlyArgAspLysPheLysLysLeuProTyrSerGluLeuLeuPheAspLysSerThrMetArgArgProPheGlyGlnLysAlaSerSerLeuProProIleValGlySerArgLysSerLysGlySerGlyAsnAspArgHisSerLysSerThrValGlySerSerAspAsnSerSerProGlnProLeuLysArgLysGlyLysLysGluAspValAsnSerGluLysLeuThrLysLeuLysGlnAsnValLysLeuLysAsnSerGlnGluThrIleProAsnSerAspGluGlyIlePheLysAlaGlyAlaGluArgSerGluThrArgGlyAlaAlaGluValGlnGluAspGluAspThrGlnValGluValProValAspGlnArgProAlaGluIleValAspGluGluGluAspGlyGluLysAlaAsnLysAspAlaGluGlnLysGluAspPheSerGlyMetAsnGlyAspLeuGluGluGluGlyGlyArgGluAlaThrAspAlaProGluGlnValGluGluIleLeuAspHisSerGluGlnGlnAlaArgProAlaArgValAsnGlyGlyThrAspGluGluAsnGlyGluGluLeuGlnGlnValAsnAsnGluLeuGlnLeuValLeuAspLysGluArgLysSerGlnGlyAlaGlySerGlyGlnAspGluAlaAspValAspProGlnArgProProArgProGluValLysIleThrSerProGluGluAsnGluAsnAsnGlnGlnAsnLysAspTyrAlaAlaValAlaTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS669100",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000378454.8:c.383C>G"
          },
          "RefSeq": {
            "hgvs": "NM_016356.5:c.383C>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000367715.3:p.Ser128Ter"
          },
          "RefSeq": {
            "hgvs": "NP_057440.2:p.Ser128Ter"
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826209507",
      "coordinates": [
        {
          "allele": "G",
          "end": 592,
          "referenceAllele": "C",
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        }
      ],
      "gene": "http://reg.genome.network/gene/GN018141",
      "geneNCBI_id": 51473,
      "geneSymbol": "DCDC2",
      "hgvs": [
        "NM_001195610.2:c.383C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001182539.1:p.Ser128Ter",
        "hgvsWellDefined": "NP_001182539.1:p.Ser128_Ala476delinsAlaArgPheArgLysProLeuGlnGluProCysThrIlePheLeuIleAlaAsnGlyAspLeuIleAsnProAlaSerArgLeuLeuIleProArgLysThrLeuAsnGlnTrpAspHisValLeuGlnMetValThrGluLysIleThrLeuArgSerGlyAlaValHisArgLeuTyrThrLeuGluGlyLysLeuValGluSerGlyAlaGluLeuGluAsnGlyGlnPheTyrValAlaValGlyArgAspLysPheLysLysLeuProTyrSerGluLeuLeuPheAspLysSerThrMetArgArgProPheGlyGlnLysAlaSerSerLeuProProIleValGlySerArgLysSerLysGlySerGlyAsnAspArgHisSerLysSerThrValGlySerSerAspAsnSerSerProGlnProLeuLysArgLysGlyLysLysGluAspValAsnSerGluLysLeuThrLysLeuLysGlnAsnValLysLeuLysAsnSerGlnGluThrIleProAsnSerAspGluGlyIlePheLysAlaGlyAlaGluArgSerGluThrArgGlyAlaAlaGluValGlnGluAspGluAspThrGlnValGluValProValAspGlnArgProAlaGluIleValAspGluGluGluAspGlyGluLysAlaAsnLysAspAlaGluGlnLysGluAspPheSerGlyMetAsnGlyAspLeuGluGluGluGlyGlyArgGluAlaThrAspAlaProGluGlnValGluGluIleLeuAspHisSerGluGlnGlnAlaArgProAlaArgValAsnGlyGlyThrAspGluGluAsnGlyGluGluLeuGlnGlnValAsnAsnGluLeuGlnLeuValLeuAspLysGluArgLysSerGlnGlyAlaGlySerGlyGlnAspGluAlaAspValAspProGlnArgProProArgProGluValLysIleThrSerProGluGluAsnGluAsnAsnGlnGlnAsnLysAspTyrAlaAlaValAlaTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS713826"
    }
  ],
  "type": "nucleotide"
}