{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA119077",
  "communityStandardTitle": [
    "NM_000288.4(PEX7):c.13_19dup (p.Gly7ValfsTer?)"
  ],
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      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=357420[alleleid]",
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        "preferredName": "NM_000288.4(PEX7):c.13_19dup (p.Gly7fs)"
      }
    ],
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      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/370629",
        "RCV": [
          "RCV000008232",
          "RCV000411594",
          "RCV001828372"
        ],
        "variationId": 370629
      }
    ],
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      {
        "@id": "http://myvariant.info/v1/variant/chr6:g.137143816_137143822dupTGCGGTG?assembly=hg19",
        "id": "chr6:g.137143816_137143822dupTGCGGTG"
      },
      {
        "@id": "http://myvariant.info/v1/variant/chr6:g.137143815_137143821dupGTGCGGT?assembly=hg19",
        "id": "chr6:g.137143815_137143821dupGTGCGGT"
      },
      {
        "@id": "http://myvariant.info/v1/variant/chr6:g.137143807_137143808insGTGCGGT?assembly=hg19",
        "id": "chr6:g.137143807_137143808insGTGCGGT"
      }
    ],
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      {
        "@id": "http://myvariant.info/v1/variant/chr6:g.136822678_136822684dupTGCGGTG?assembly=hg38",
        "id": "chr6:g.136822678_136822684dupTGCGGTG"
      },
      {
        "@id": "http://myvariant.info/v1/variant/chr6:g.136822677_136822683dupGTGCGGT?assembly=hg38",
        "id": "chr6:g.136822677_136822683dupGTGCGGT"
      },
      {
        "@id": "http://myvariant.info/v1/variant/chr6:g.136822669_136822670insGTGCGGT?assembly=hg38",
        "id": "chr6:g.136822669_136822670insGTGCGGT"
      }
    ],
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      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/62636519",
        "rs": 62636519
      }
    ],
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      {
        "@id": "http://gnomad.broadinstitute.org/variant/6-137143807-A-AGTGCGGT?dataset=gnomad_r2_1",
        "id": "6-137143807-A-AGTGCGGT",
        "variant": "6:137143807 A / AGTGCGGT"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/6-136822669-A-AGTGCGGT?dataset=gnomad_r3",
        "id": "6-136822669-A-AGTGCGGT",
        "variant": "6:136822669 A / AGTGCGGT"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/6-136822669-A-AGTGCGGT?dataset=gnomad_r4",
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      }
    ]
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        {
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          "referenceAllele": "",
          "start": 136822684
        }
      ],
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      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000054"
    },
    {
      "chromosome": "6",
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          "end": 137143822,
          "referenceAllele": "",
          "start": 137143822
        }
      ],
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        "CM000668.1:g.137143816_137143822dup"
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      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000030"
    },
    {
      "chromosome": "6",
      "coordinates": [
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          "end": 137185515,
          "referenceAllele": "",
          "start": 137185515
        }
      ],
      "hgvs": [
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      "referenceGenome": "NCBI36",
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    },
    {
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        {
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          "referenceAllele": "",
          "start": 5105
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      "referenceSequence": "http://reg.genome.network/refseq/RS001108"
    }
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          "start": 93
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      },
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        "maneStatus": "MANE Select",
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          }
        },
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            "hgvs": "ENSP00000315680.3:p.Gly7ValfsTer?"
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            "hgvs": "NP_000279.1:p.Gly7ValfsTer?"
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      }
    },
    {
      "coordinates": [
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      "proteinEffect": {
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      },
      "referenceSequence": "http://reg.genome.network/refseq/RS759660"
    },
    {
      "coordinates": [
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          "referenceAllele": "",
          "start": 19
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      ],
      "gene": "http://reg.genome.network/gene/GN008860",
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      "hgvs": [
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      "proteinEffect": {
        "hgvs": "ENSP00000503841.1:p.Gly7ValfsTer?",
        "hgvsWellDefined": "ENSP00000503841.1:p.[Gly6_Gly7insValArgTrpSer;Ala8_Ala9insAsp;Arg10_Arg13delinsAlaAspAlaGly;Gly16del;His18_Ser25delinsLeuArgArgArgValLeuProVal;Tyr27_Leu28delinsAlaGly;Gly30_Arg31delinsProGly;Ala33_Thr36delinsArgHis]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS778234"
    },
    {
      "coordinates": [
        {
          "allele": "TGCGGTG",
          "end": 100,
          "referenceAllele": "",
          "start": 100
        }
      ],
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      "geneSymbol": "PEX7",
      "hgvs": [
        "ENST00000318471.4:c.13_19dup"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000315680.3:p.Gly7ValfsTer?",
        "hgvsWellDefined": "ENSP00000315680.3:p.[Gly6_Gly7insValArgTrpSer;Ala8_Ala9insAsp;Arg10_Arg13delinsAlaAspAlaGly;Gly16del;His18_Ser25delinsLeuArgArgArgValLeuProVal;Tyr27_Leu28delinsAlaGly;Gly30_Arg31delinsProGly;Ala33_Thr36delinsArgHis]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS257539"
    },
    {
      "coordinates": [
        {
          "allele": "TGCGGTG",
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          "referenceAllele": "",
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        }
      ],
      "gene": "http://reg.genome.network/gene/GN008860",
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      "geneSymbol": "PEX7",
      "hgvs": [
        "ENST00000367756.8:c.13_19dup"
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      "proteinEffect": {
        "hgvs": "ENSP00000356730.4:p.Gly7ValfsTer?",
        "hgvsWellDefined": "ENSP00000356730.4:p.[Gly6_Gly7insValArgTrpSer;Ala8_Ala9insAsp;Arg10_Arg13delinsAlaAspAlaGly;Gly16del;His18_Ser25delinsLeuArgArgArgValLeuProVal;Tyr27_Leu28delinsAlaGly;Gly30_Arg31delinsProGly;Ala33_Thr36delinsArgHis]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS266561"
    },
    {
      "coordinates": [
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          "referenceAllele": "",
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      ],
      "gene": "http://reg.genome.network/gene/GN008860",
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      "proteinEffect": {
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        "hgvsWellDefined": "ENSP00000441004.1:p.[Gly6_Gly7insValArgTrpSer;Ala8_Ala9insAsp;Arg10_Arg13delinsAlaAspAlaGly;Gly16del;His18_Ser25delinsLeuArgArgArgValLeuProVal;Tyr27_Leu28delinsAlaGly;Gly30_Arg31delinsProGly;Ala33_Thr36delinsArgHis]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS362852"
    },
    {
      "coordinates": [
        {
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          "referenceAllele": "",
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        }
      ],
      "gene": "http://reg.genome.network/gene/GN008860",
      "geneNCBI_id": 5191,
      "geneSymbol": "PEX7",
      "hgvs": [
        "NM_000288.3:c.13_19dup"
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      "proteinEffect": {
        "hgvs": "NP_000279.1:p.Gly7ValfsTer?",
        "hgvsWellDefined": "NP_000279.1:p.[Gly6_Gly7insValArgTrpSer;Ala8_Ala9insAsp;Arg10_Arg13delinsAlaAspAlaGly;Gly16del;His18_Ser25delinsLeuArgArgArgValLeuProVal;Tyr27_Leu28delinsAlaGly;Gly30_Arg31delinsProGly;Ala33_Thr36delinsArgHis]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006349"
    },
    {
      "coordinates": [
        {
          "allele": "TGCGGTG",
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          "referenceAllele": "",
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      ],
      "gene": "http://reg.genome.network/gene/GN008860",
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      "geneSymbol": "PEX7",
      "hgvs": [
        "XM_006715502.1:c.13_19dup"
      ],
      "proteinEffect": {
        "hgvs": "XP_006715565.1:p.Gly7ValfsTer?",
        "hgvsWellDefined": "XP_006715565.1:p.[Gly6_Gly7insValArgTrpSer;Ala8_Ala9insAsp;Arg10_Arg13delinsAlaAspAlaGly;Gly16del;His18_Ser25delinsLeuArgArgArgValLeuProVal;Tyr27_Leu28delinsAlaGly;Gly30_Arg31delinsProGly;Ala33_Thr36delinsArgHis]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS071191"
    },
    {
      "coordinates": [
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      ],
      "gene": "http://reg.genome.network/gene/GN008860",
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      "geneSymbol": "PEX7",
      "hgvs": [
        "XM_011535900.1:c.13_19dup"
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      "proteinEffect": {
        "hgvs": "XP_011534202.1:p.Gly7ValfsTer?",
        "hgvsWellDefined": "XP_011534202.1:p.[Gly6_Gly7insValArgTrpSer;Ala8_Ala9insAsp;Arg10_Arg13delinsAlaAspAlaGly;Gly16del;His18_Ser25delinsLeuArgArgArgValLeuProVal;Tyr27_Leu28delinsAlaGly;Gly30_Arg31delinsProGly;Ala33_Thr36delinsArgHis]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS102902"
    },
    {
      "coordinates": [
        {
          "allele": "TGCGGTG",
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          "referenceAllele": "",
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      ],
      "gene": "http://reg.genome.network/gene/GN008860",
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      "geneSymbol": "PEX7",
      "hgvs": [
        "XM_006715502.2:c.13_19dup"
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      "proteinEffect": {
        "hgvs": "XP_006715565.1:p.Gly7ValfsTer?",
        "hgvsWellDefined": "XP_006715565.1:p.[Gly6_Gly7insValArgTrpSer;Ala8_Ala9insAsp;Arg10_Arg13delinsAlaAspAlaGly;Gly16del;His18_Ser25delinsLeuArgArgArgValLeuProVal;Tyr27_Leu28delinsAlaGly;Gly30_Arg31delinsProGly;Ala33_Thr36delinsArgHis]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS538951"
    },
    {
      "coordinates": [
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      "gene": "http://reg.genome.network/gene/GN008860",
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      "geneSymbol": "PEX7",
      "hgvs": [
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      "proteinEffect": {
        "hgvs": "XP_016866423.1:p.Gly7ValfsTer?",
        "hgvsWellDefined": "XP_016866423.1:p.[Gly6_Gly7insValArgTrpSer;Ala8_Ala9insAsp;Arg10_Arg13delinsAlaAspAlaGly;Gly16del;His18_Ser25delinsLeuArgArgArgValLeuProVal;Tyr27_Leu28delinsAlaGly;Gly30_Arg31delinsProGly;Ala33_Thr36delinsArgHis]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS564889"
    },
    {
      "coordinates": [
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      ],
      "gene": "http://reg.genome.network/gene/GN008860",
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      "hgvs": [
        "NM_000288.4:c.13_19dup"
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      "proteinEffect": {
        "hgvs": "NP_000279.1:p.Gly7ValfsTer?",
        "hgvsWellDefined": "NP_000279.1:p.[Gly6_Gly7insValArgTrpSer;Ala8_Ala9insAsp;Arg10_Arg13delinsAlaAspAlaGly;Gly16del;His18_Ser25delinsLeuArgArgArgValLeuProVal;Tyr27_Leu28delinsAlaGly;Gly30_Arg31delinsProGly;Ala33_Thr36delinsArgHis]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS662387",
      "MANE": {
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        "nucleotide": {
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        "protein": {
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          "RefSeq": {
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          }
        }
      }
    }
  ],
  "type": "nucleotide"
}