{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA7365371",
  "communityStandardTitle": [
    "NM_001370595.2(COA8):c.-10dup"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=1017774[alleleid]",
        "alleleId": 1017774,
        "preferredName": "NM_001370595.2(COA8):c.-10dup"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/1030024",
        "RCV": [
          "RCV001331472",
          "RCV001810031",
          "RCV002298934",
          "RCV004035716"
        ],
        "variationId": 1030024
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/14-104029324-A-AG",
        "id": "14-104029324-A-AG",
        "variant": "14:104029324 A / AG"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr14:g.104029324_104029325insG?assembly=hg19",
        "id": "chr14:g.104029324_104029325insG"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr14:g.103562987_103562988insG?assembly=hg38",
        "id": "chr14:g.103562987_103562988insG"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/559856575",
        "rs": 559856575
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/14-104029324-A-AG?dataset=gnomad_r2_1",
        "id": "14-104029324-A-AG",
        "variant": "14:104029324 A / AG"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/14-103562987-A-AG?dataset=gnomad_r3",
        "id": "14-103562987-A-AG",
        "variant": "14:103562987 A / AG"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/14-103562987-A-AG?dataset=gnomad_r4",
        "id": "14-103562987-A-AG",
        "variant": "14:103562987 A / AG"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "14",
      "coordinates": [
        {
          "allele": "G",
          "end": 103562992,
          "referenceAllele": "",
          "start": 103562992
        }
      ],
      "hgvs": [
        "NC_000014.9:g.103562992dup",
        "CM000676.2:g.103562992dup"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000062"
    },
    {
      "chromosome": "14",
      "coordinates": [
        {
          "allele": "G",
          "end": 104029329,
          "referenceAllele": "",
          "start": 104029329
        }
      ],
      "hgvs": [
        "NC_000014.8:g.104029329dup",
        "CM000676.1:g.104029329dup"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000038"
    },
    {
      "chromosome": "14",
      "coordinates": [
        {
          "allele": "G",
          "end": 103099082,
          "referenceAllele": "",
          "start": 103099082
        }
      ],
      "hgvs": [
        "NC_000014.7:g.103099082dup"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000014"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 5036,
          "referenceAllele": "",
          "start": 5036
        }
      ],
      "hgvs": [
        "NG_041786.1:g.5036dup"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS005859"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 33,
          "referenceAllele": "",
          "start": 33
        }
      ],
      "gene": "http://reg.genome.network/gene/GN020492",
      "geneNCBI_id": 84334,
      "geneSymbol": "COA8",
      "hgvs": [
        "ENST00000409074.8:c.-10dup"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000386485.3:n.-10dup"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS754258",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000409074.8:c.-10dup"
          },
          "RefSeq": {
            "hgvs": "NM_001370595.2:c.-10dup"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000386485.3:n.-10dup"
          },
          "RefSeq": {
            "hgvs": "NP_001357524.1:n.-10dup"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 28,
          "referenceAllele": "",
          "start": 28
        }
      ],
      "gene": "http://reg.genome.network/gene/GN020492",
      "geneNCBI_id": 84334,
      "geneSymbol": "COA8",
      "hgvs": [
        "ENST00000440963.2:c.-10dup"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000388067.2:n.-10dup"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS755821"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 14,
          "referenceAllele": "",
          "start": 14
        }
      ],
      "gene": "http://reg.genome.network/gene/GN020492",
      "geneNCBI_id": 84334,
      "geneSymbol": "COA8",
      "hgvs": [
        "ENST00000458117.6:c.-10dup"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000408525.2:n.-10dup"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS756619"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 31,
          "referenceAllele": "",
          "start": 31
        }
      ],
      "hgvs": [
        "ENST00000472726.3:c.-10dup"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000439065.2:n.-10dup"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS757074"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 30,
          "referenceAllele": "",
          "start": 30
        }
      ],
      "gene": "http://reg.genome.network/gene/GN020492",
      "geneNCBI_id": 84334,
      "geneSymbol": "COA8",
      "hgvs": [
        "ENST00000674165.1:c.30dup"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000501341.1:p.Arg11AlafsTer?",
        "hgvsWellDefined": "ENSP00000501341.1:p.[Arg11_Val16delinsAlaTrpGlyHisGlyGly;Arg18del;Lys21_Phe24delinsGlyGluGluAsp;Leu25_Pro26insSer;Pro27_Leu28insSer;Cys29Pro;Ala31_Cys34delinsLeuArgLeuPro;Gly36_Ala40delinsLeuSerThrArg]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS774178"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 31,
          "referenceAllele": "",
          "start": 31
        }
      ],
      "gene": "http://reg.genome.network/gene/GN020492",
      "geneNCBI_id": 84334,
      "geneSymbol": "COA8",
      "hgvs": [
        "ENST00000409074.6:c.30dup"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000386485.2:p.Arg11AlafsTer?",
        "hgvsWellDefined": "ENSP00000386485.2:p.[Arg11_Val16delinsAlaTrpGlyHisGlyGly;Arg18del;Lys21_Phe24delinsGlyGluGluAsp;Leu25_Pro26insSer;Pro27_Leu28insSer;Cys29Pro;Ala31_Cys34delinsLeuArgLeuPro;Gly36_Ala40delinsLeuSerThrArg]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS281232"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 28,
          "referenceAllele": "",
          "start": 28
        }
      ],
      "gene": "http://reg.genome.network/gene/GN020492",
      "geneNCBI_id": 84334,
      "geneSymbol": "COA8",
      "hgvs": [
        "ENST00000440963.1:c.28dup"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000388067.1:p.Ala10GlyfsTer?",
        "hgvsWellDefined": "ENSP00000388067.1:p.[Ala10_Trp11delinsGlyVal;His13_Ala17delinsProTrpTrpSerCys;Gly18_Gly19insArg;Glu20_Leu23delinsArgArgProPhe;Pro26Leu;Leu28delinsAlaAla;Arg30_Leu36delinsSerProAlaAlaAlaValAsn;Thr38_Arg39del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS296152"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 14,
          "referenceAllele": "",
          "start": 14
        }
      ],
      "gene": "http://reg.genome.network/gene/GN020492",
      "geneNCBI_id": 84334,
      "geneSymbol": "COA8",
      "hgvs": [
        "ENST00000458117.5:c.14dup"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS304257"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 31,
          "referenceAllele": "",
          "start": 31
        }
      ],
      "hgvs": [
        "ENST00000472726.2:c.30dup"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000439065.1:p.Arg11AlafsTer?",
        "hgvsWellDefined": "ENSP00000439065.1:p.[Arg11_Val16delinsAlaTrpGlyHisGlyGly;Arg18del;Lys21_Phe24delinsGlyGluGluAsp;Leu25_Pro26insSer;Pro27_Leu28insSer;Cys29Pro;Ala31_Cys34delinsLeuArgLeuPro;Gly36_Ala40delinsLeuSerThrArg]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS314636"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 11,
          "referenceAllele": "",
          "start": 11
        }
      ],
      "gene": "http://reg.genome.network/gene/GN020492",
      "geneNCBI_id": 84334,
      "geneSymbol": "COA8",
      "hgvs": [
        "ENST00000554625.5:n.11dup"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS370787"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 6,
          "referenceAllele": "",
          "start": 6
        }
      ],
      "gene": "http://reg.genome.network/gene/GN020492",
      "geneNCBI_id": 84334,
      "geneSymbol": "COA8",
      "hgvs": [
        "ENST00000556253.6:c.-10dup"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000451874.2:n.-10dup"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS372075"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 89,
          "endIntronDirection": "+",
          "endIntronOffset": 1008,
          "referenceAllele": "",
          "start": 89,
          "startIntronDirection": "+",
          "startIntronOffset": 1008
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006387",
      "geneNCBI_id": 3831,
      "geneSymbol": "KLC1",
      "hgvs": [
        "ENST00000557172.5:c.-2+1008dup"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000450786.1:n.-2+1008dup"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS372804"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 36,
          "referenceAllele": "",
          "start": 36
        }
      ],
      "gene": "http://reg.genome.network/gene/GN020492",
      "geneNCBI_id": 84334,
      "geneSymbol": "COA8",
      "hgvs": [
        "NM_001302652.1:c.30dup"
      ],
      "proteinEffect": {
        "hgvs": "NP_001289581.1:p.Arg11AlafsTer?",
        "hgvsWellDefined": "NP_001289581.1:p.[Arg11_Val16delinsAlaTrpGlyHisGlyGly;Arg18del;Lys21_Phe24delinsGlyGluGluAsp;Leu25_Pro26insSer;Pro27_Leu28insSer;Cys29Pro;Ala31_Cys34delinsLeuArgLeuPro;Gly36_Ala40delinsLeuSerThrArg]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS025317"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 36,
          "referenceAllele": "",
          "start": 36
        }
      ],
      "gene": "http://reg.genome.network/gene/GN020492",
      "geneNCBI_id": 84334,
      "geneSymbol": "COA8",
      "hgvs": [
        "NM_001302653.1:c.30dup"
      ],
      "proteinEffect": {
        "hgvs": "NP_001289582.1:p.Arg11AlafsTer?",
        "hgvsWellDefined": "NP_001289582.1:p.[Arg11_Val16delinsAlaTrpGlyHisGlyGly;Arg18del;Lys21_Phe24delinsGlyGluGluAsp;Leu25_Pro26insSer;Pro27_Leu28insSer;Cys29Pro;Ala31_Cys34delinsLeuArgLeuPro;Gly36_Ala40delinsLeuSerThrArg]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS025318"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 36,
          "referenceAllele": "",
          "start": 36
        }
      ],
      "gene": "http://reg.genome.network/gene/GN020492",
      "geneNCBI_id": 84334,
      "geneSymbol": "COA8",
      "hgvs": [
        "NM_001302654.1:c.30dup"
      ],
      "proteinEffect": {
        "hgvs": "NP_001289583.1:p.Arg11AlafsTer?",
        "hgvsWellDefined": "NP_001289583.1:p.[Arg11_Val16delinsAlaTrpGlyHisGlyGly;Arg18del;Lys21_Phe24delinsGlyGluGluAsp;Leu25_Pro26insSer;Pro27_Leu28insSer;Cys29Pro;Ala31_Cys34delinsLeuArgLeuPro;Gly36_Ala40delinsLeuSerThrArg]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS025319"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 36,
          "referenceAllele": "",
          "start": 36
        }
      ],
      "gene": "http://reg.genome.network/gene/GN020492",
      "geneNCBI_id": 84334,
      "geneSymbol": "COA8",
      "hgvs": [
        "NM_032374.4:c.30dup"
      ],
      "proteinEffect": {
        "hgvs": "NP_115750.2:p.Arg11AlafsTer?",
        "hgvsWellDefined": "NP_115750.2:p.[Arg11_Val16delinsAlaTrpGlyHisGlyGly;Arg18del;Lys21_Phe24delinsGlyGluGluAsp;Leu25_Pro26insSer;Pro27_Leu28insSer;Cys29Pro;Ala31_Cys34delinsLeuArgLeuPro;Gly36_Ala40delinsLeuSerThrArg]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS039040"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 36,
          "referenceAllele": "",
          "start": 36
        }
      ],
      "gene": "http://reg.genome.network/gene/GN020492",
      "geneNCBI_id": 84334,
      "geneSymbol": "COA8",
      "hgvs": [
        "NR_126431.1:n.36dup"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS056268"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 36,
          "referenceAllele": "",
          "start": 36
        }
      ],
      "gene": "http://reg.genome.network/gene/GN020492",
      "geneNCBI_id": 84334,
      "geneSymbol": "COA8",
      "hgvs": [
        "NR_126432.1:n.36dup"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS056269"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 33,
          "referenceAllele": "",
          "start": 33
        }
      ],
      "gene": "http://reg.genome.network/gene/GN020492",
      "geneNCBI_id": 84334,
      "geneSymbol": "COA8",
      "hgvs": [
        "NM_001302652.2:c.-10dup"
      ],
      "proteinEffect": {
        "hgvs": "NP_001289581.2:n.-10dup"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS683473"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 33,
          "referenceAllele": "",
          "start": 33
        }
      ],
      "gene": "http://reg.genome.network/gene/GN020492",
      "geneNCBI_id": 84334,
      "geneSymbol": "COA8",
      "hgvs": [
        "NM_001302653.2:c.-10dup"
      ],
      "proteinEffect": {
        "hgvs": "NP_001289582.2:n.-10dup"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS683474"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 33,
          "referenceAllele": "",
          "start": 33
        }
      ],
      "gene": "http://reg.genome.network/gene/GN020492",
      "geneNCBI_id": 84334,
      "geneSymbol": "COA8",
      "hgvs": [
        "NM_001302654.2:c.-10dup"
      ],
      "proteinEffect": {
        "hgvs": "NP_001289583.2:n.-10dup"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS683475"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 33,
          "referenceAllele": "",
          "start": 33
        }
      ],
      "gene": "http://reg.genome.network/gene/GN020492",
      "geneNCBI_id": 84334,
      "geneSymbol": "COA8",
      "hgvs": [
        "NM_001370595.2:c.-10dup"
      ],
      "proteinEffect": {
        "hgvs": "NP_001357524.1:n.-10dup"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS692564",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000409074.8:c.-10dup"
          },
          "RefSeq": {
            "hgvs": "NM_001370595.2:c.-10dup"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000386485.3:n.-10dup"
          },
          "RefSeq": {
            "hgvs": "NP_001357524.1:n.-10dup"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 33,
          "referenceAllele": "",
          "start": 33
        }
      ],
      "gene": "http://reg.genome.network/gene/GN020492",
      "geneNCBI_id": 84334,
      "geneSymbol": "COA8",
      "hgvs": [
        "NR_126431.2:n.33dup"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS703281"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 33,
          "referenceAllele": "",
          "start": 33
        }
      ],
      "gene": "http://reg.genome.network/gene/GN020492",
      "geneNCBI_id": 84334,
      "geneSymbol": "COA8",
      "hgvs": [
        "NR_126432.2:n.33dup"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS703282"
    }
  ],
  "type": "nucleotide"
}