{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA2573054289",
  "communityStandardTitle": [
    "NM_000512.5(GALNS):c.330_331delinsTT (p.Pro111Ter)"
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  "externalRecords": {
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/2143004674",
        "rs": 2143004674
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      "chromosome": "16",
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        {
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    {
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    },
    {
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      "referenceSequence": "http://reg.genome.network/refseq/RS001157"
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        "maneStatus": "MANE Select",
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      "referenceSequence": "http://reg.genome.network/refseq/RS252095"
    },
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      "referenceSequence": "http://reg.genome.network/refseq/RS376891"
    },
    {
      "coordinates": [
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      "hgvs": [
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      "proteinEffect": {
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        "hgvsWellDefined": "ENSP00000455174.1:p.Gln39Ter"
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      "referenceSequence": "http://reg.genome.network/refseq/RS377035"
    },
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      "referenceSequence": "http://reg.genome.network/refseq/RS378708"
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      "referenceSequence": "http://reg.genome.network/refseq/RS380166"
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      "referenceSequence": "http://reg.genome.network/refseq/RS380342"
    },
    {
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      "geneSymbol": "GALNS",
      "hgvs": [
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      "proteinEffect": {
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      "referenceSequence": "http://reg.genome.network/refseq/RS380908"
    },
    {
      "coordinates": [
        {
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      "proteinEffect": {
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      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006568"
    },
    {
      "coordinates": [
        {
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      ],
      "gene": "http://reg.genome.network/gene/GN004122",
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      "proteinEffect": {
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      },
      "referenceSequence": "http://reg.genome.network/refseq/RS061259"
    },
    {
      "coordinates": [
        {
          "allele": "TT",
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      ],
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        "hgvsWellDefined": "XP_005256359.1:p.Gln117_His528delinsGluIleValGlyGlyIleProAspSerGluGlnLeuLeuProGluLeuLeuLysLysAlaGlyTyrValSerLysIleValGlyLysTrpHisLeuGlyHisArgProGlnPheHisProLeuLysHisGlyPheAspGluTrpPheGlySerProAsnCysHisPheGlyProTyrAspAsnLysAlaArgProAsnIleProValTyrArgAspTrpGluMetValGlyArgTyrTyrGluGluPheProIleAsnLeuLysThrGlyGluAlaAsnLeuThrGlnIleTyrLeuGlnGluAlaLeuAspPheIleLysArgGlnAlaArgHisHisProPhePheLeuTyrTrpAlaValAspAlaThrHisAlaProValTyrAlaSerLysProPheLeuGlyThrSerGlnArgGlyArgTyrGlyAspAlaValArgGluIleAspAspSerIleGlyLysIleLeuGluLeuLeuGlnAspLeuHisValAlaAspAsnThrPheValPhePheThrSerAspAsnGlyAlaAlaLeuIleSerAlaProGluGlnGlyGlySerAsnGlyProPheLeuCysGlyLysGlnThrThrPheGluGlyGlyMetArgGluProAlaLeuAlaTrpTrpProGlyHisValThrAlaGlyGlnValSerHisGlnLeuGlySerIleMetAspLeuPheThrThrSerLeuAlaLeuAlaGlyLeuThrProProSerAspArgAlaIleAspGlyLeuAsnLeuLeuProThrLeuLeuGlnGlyArgLeuMetAspArgProIlePheTyrTyrArgGlyAspThrLeuMetAlaAlaThrLeuGlyGlnHisLysAlaHisPheTrpThrTrpThrAsnSerTrpGluAsnPheArgGlnGlyIleAspPheCysProGlyGlnAsnValSerGlyValThrThrHisAsnLeuGluAspHisThrLysLeuProLeuIlePheHisLeuGlyArgAspProGlyGluArgPheProLeuSerPheAlaSerAlaGluTyrGlnGluAlaLeuSerArgIleThrSerValValGlnGlnHisGlnGluAlaLeuValProAlaGlnProGlnLeuAsnValCysAsnTrpAlaValMetAsnTrpAlaProProGlyCysGluLysLeuGlyLysCysLeuThrProProGluSerIleProLysLysCysLeuTrpSerHisTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS061260"
    },
    {
      "coordinates": [
        {
          "allele": "TT",
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      ],
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      "hgvs": [
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      },
      "referenceSequence": "http://reg.genome.network/refseq/RS090123"
    },
    {
      "coordinates": [
        {
          "allele": "TT",
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      ],
      "gene": "http://reg.genome.network/gene/GN004122",
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      "hgvs": [
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      "proteinEffect": {
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        "hgvsWellDefined": "XP_011521286.1:p.Gln117_Thr508delinsGluIleValGlyGlyIleProAspSerGluGlnLeuLeuProGluLeuLeuLysLysAlaGlyTyrValSerLysIleValGlyLysTrpHisLeuGlyHisArgProGlnPheHisProLeuLysHisGlyPheAspGluTrpPheGlySerProAsnCysHisPheGlyProTyrAspAsnLysAlaArgProAsnIleProValTyrArgAspTrpGluMetValGlyArgTyrTyrGluGluPheProIleAsnLeuLysThrGlyGluAlaAsnLeuThrGlnIleTyrLeuGlnGluAlaLeuAspPheIleLysArgGlnAlaArgHisHisProPhePheLeuTyrTrpAlaValAspAlaThrHisAlaProValTyrAlaSerLysProPheLeuGlyThrSerGlnArgGlyArgTyrGlyAspAlaValArgGluIleAspAspSerIleGlyLysIleLeuGluLeuLeuGlnAspLeuHisValAlaAspAsnThrPheValPhePheThrSerAspAsnGlyAlaAlaLeuIleSerAlaProGluGlnGlyGlySerAsnGlyProPheLeuCysGlyLysGlnThrThrPheGluGlyGlyMetArgGluProAlaLeuAlaTrpTrpProGlyHisValThrAlaGlyGlnValSerHisGlnLeuGlySerIleMetAspLeuPheThrThrSerLeuAlaLeuAlaGlyLeuThrProProSerAspArgAlaIleAspGlyLeuAsnLeuLeuProThrLeuLeuGlnGlyArgLeuMetAspArgProIlePheTyrTyrArgGlyAspThrLeuMetAlaAlaThrLeuGlyGlnHisLysAlaHisPheTrpThrTrpThrAsnSerTrpGluAsnPheArgGlnGlyIleAspPheCysProGlyGlnAsnValSerGlyValThrThrHisAsnLeuGluAspHisThrLysLeuProLeuIlePheHisLeuGlyArgAspProGlyGluArgPheProLeuSerPheAlaSerAlaGluTyrGlnGluAlaLeuSerArgIleThrSerValValGlnGlnHisGlnGluAlaLeuValProAlaGlnProGlnLeuAsnValCysAsnTrpAlaValMetProGlnArgProSerHisGlnThrTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS090124"
    },
    {
      "coordinates": [
        {
          "allele": "TT",
          "end": 300,
          "referenceAllele": "GC",
          "start": 298
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004122",
      "geneNCBI_id": 2588,
      "geneSymbol": "GALNS",
      "hgvs": [
        "NM_001323543.1:c.-226_-225delinsTT"
      ],
      "proteinEffect": {
        "hgvs": "NP_001310472.1:n.-226_-225delinsTT"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS515441"
    },
    {
      "coordinates": [
        {
          "allele": "TT",
          "end": 594,
          "referenceAllele": "GC",
          "start": 592
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004122",
      "geneNCBI_id": 2588,
      "geneSymbol": "GALNS",
      "hgvs": [
        "NM_001323544.1:c.348_349delinsTT"
      ],
      "proteinEffect": {
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        "hgvsWellDefined": "NP_001310473.1:p.Gln117_His528delinsGluIleValGlyGlyIleProAspSerGluGlnLeuLeuProGluLeuLeuLysLysAlaGlyTyrValSerLysIleValGlyLysTrpHisLeuGlyHisArgProGlnPheHisProLeuLysHisGlyPheAspGluTrpPheGlySerProAsnCysHisPheGlyProTyrAspAsnLysAlaArgProAsnIleProValTyrArgAspTrpGluMetValGlyArgTyrTyrGluGluPheProIleAsnLeuLysThrGlyGluAlaAsnLeuThrGlnIleTyrLeuGlnGluAlaLeuAspPheIleLysArgGlnAlaArgHisHisProPhePheLeuTyrTrpAlaValAspAlaThrHisAlaProValTyrAlaSerLysProPheLeuGlyThrSerGlnArgGlyArgTyrGlyAspAlaValArgGluIleAspAspSerIleGlyLysIleLeuGluLeuLeuGlnAspLeuHisValAlaAspAsnThrPheValPhePheThrSerAspAsnGlyAlaAlaLeuIleSerAlaProGluGlnGlyGlySerAsnGlyProPheLeuCysGlyLysGlnThrThrPheGluGlyGlyMetArgGluProAlaLeuAlaTrpTrpProGlyHisValThrAlaGlyGlnValSerHisGlnLeuGlySerIleMetAspLeuPheThrThrSerLeuAlaLeuAlaGlyLeuThrProProSerAspArgAlaIleAspGlyLeuAsnLeuLeuProThrLeuLeuGlnGlyArgLeuMetAspArgProIlePheTyrTyrArgGlyAspThrLeuMetAlaAlaThrLeuGlyGlnHisLysAlaHisPheTrpThrTrpThrAsnSerTrpGluAsnPheArgGlnGlyIleAspPheCysProGlyGlnAsnValSerGlyValThrThrHisAsnLeuGluAspHisThrLysLeuProLeuIlePheHisLeuGlyArgAspProGlyGluArgPheProLeuSerPheAlaSerAlaGluTyrGlnGluAlaLeuSerArgIleThrSerValValGlnGlnHisGlnGluAlaLeuValProAlaGlnProGlnLeuAsnValCysAsnTrpAlaValMetAsnTrpAlaProProGlyCysGluLysLeuGlyLysCysLeuThrProProGluSerIleProLysLysCysLeuTrpSerHisTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS515442"
    },
    {
      "coordinates": [
        {
          "allele": "TT",
          "end": 420,
          "referenceAllele": "GC",
          "start": 418
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004122",
      "geneNCBI_id": 2588,
      "geneSymbol": "GALNS",
      "hgvs": [
        "XM_005256301.3:c.330_331delinsTT"
      ],
      "proteinEffect": {
        "hgvs": "XP_005256358.1:p.Pro111Ter",
        "hgvsWellDefined": "XP_005256358.1:p.Gln111_Pro575delinsGluIleValGlyGlyIleProAspSerGluGlnLeuLeuProGluLeuLeuLysLysAlaGlyTyrValSerLysIleValGlyLysTrpHisLeuGlyHisArgProGlnPheHisProLeuLysHisGlyPheAspGluTrpPheGlySerProAsnCysHisPheGlyProTyrAspAsnLysAlaArgProAsnIleProValTyrArgAspTrpGluMetValGlyArgTyrTyrGluGluPheProIleAsnLeuLysThrGlyGluAlaAsnLeuThrGlnIleTyrLeuGlnGluAlaLeuAspPheIleLysArgGlnAlaArgHisHisProPhePheLeuTyrTrpAlaValAspAlaThrHisAlaProValTyrAlaSerLysProPheLeuGlyThrSerGlnArgGlyArgTyrGlyAspAlaValArgGluIleAspAspSerIleGlyLysIleLeuGluLeuLeuGlnAspLeuHisValAlaAspAsnThrPheValPhePheThrSerAspAsnGlyAlaAlaLeuIleSerAlaProGluGlnGlyGlySerAsnGlyProPheLeuCysGlyLysGlnThrThrPheGluGlyGlyMetArgGluProAlaLeuAlaTrpTrpProGlyHisValThrAlaGlyGlnValSerHisGlnLeuGlySerIleMetAspLeuPheThrThrSerLeuAlaLeuAlaGlyLeuThrProProSerAspArgAlaIleAspGlyLeuAsnLeuLeuProThrLeuLeuGlnGlyArgLeuMetAspArgProIlePheTyrTyrArgGlyAspThrLeuMetAlaAlaThrLeuGlyGlnHisLysAlaHisPheTrpThrTrpThrAsnSerTrpGluAsnPheArgGlnGlyIleAspPheCysProGlyGlnAsnValSerGlyValThrThrHisAsnLeuGluAspHisThrLysLeuProLeuIlePheHisLeuGlyArgAspProGlyGluArgPheProLeuSerPheAlaSerAlaGluTyrGlnGluAlaLeuSerArgIleThrSerValValGlnGlnHisGlnGluAlaLeuValProAlaGlnProGlnLeuAsnValCysAsnTrpAlaValMetAlaProThrGlnSerSerThrSerValGlnProAspLysThrArgProCysSerProProValGluLysArgProHisHisAlaSerIleGlyGlnLysHisLysHisArgArgAlaSerLysValSerLeuLysSerValPheArgProGlnArgMetArgArgArgLeuValGlnProTrpGlyProGlnGlnSerGlyProLeuArgSerSerPheSerValProCysLeuGlyValProTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS534454"
    },
    {
      "coordinates": [
        {
          "allele": "TT",
          "end": 466,
          "referenceAllele": "GC",
          "start": 464
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004122",
      "geneNCBI_id": 2588,
      "geneSymbol": "GALNS",
      "hgvs": [
        "XM_011522982.2:c.348_349delinsTT"
      ],
      "proteinEffect": {
        "hgvs": "XP_011521284.1:p.Pro117Ter",
        "hgvsWellDefined": "XP_011521284.1:p.Gln117_Pro581delinsGluIleValGlyGlyIleProAspSerGluGlnLeuLeuProGluLeuLeuLysLysAlaGlyTyrValSerLysIleValGlyLysTrpHisLeuGlyHisArgProGlnPheHisProLeuLysHisGlyPheAspGluTrpPheGlySerProAsnCysHisPheGlyProTyrAspAsnLysAlaArgProAsnIleProValTyrArgAspTrpGluMetValGlyArgTyrTyrGluGluPheProIleAsnLeuLysThrGlyGluAlaAsnLeuThrGlnIleTyrLeuGlnGluAlaLeuAspPheIleLysArgGlnAlaArgHisHisProPhePheLeuTyrTrpAlaValAspAlaThrHisAlaProValTyrAlaSerLysProPheLeuGlyThrSerGlnArgGlyArgTyrGlyAspAlaValArgGluIleAspAspSerIleGlyLysIleLeuGluLeuLeuGlnAspLeuHisValAlaAspAsnThrPheValPhePheThrSerAspAsnGlyAlaAlaLeuIleSerAlaProGluGlnGlyGlySerAsnGlyProPheLeuCysGlyLysGlnThrThrPheGluGlyGlyMetArgGluProAlaLeuAlaTrpTrpProGlyHisValThrAlaGlyGlnValSerHisGlnLeuGlySerIleMetAspLeuPheThrThrSerLeuAlaLeuAlaGlyLeuThrProProSerAspArgAlaIleAspGlyLeuAsnLeuLeuProThrLeuLeuGlnGlyArgLeuMetAspArgProIlePheTyrTyrArgGlyAspThrLeuMetAlaAlaThrLeuGlyGlnHisLysAlaHisPheTrpThrTrpThrAsnSerTrpGluAsnPheArgGlnGlyIleAspPheCysProGlyGlnAsnValSerGlyValThrThrHisAsnLeuGluAspHisThrLysLeuProLeuIlePheHisLeuGlyArgAspProGlyGluArgPheProLeuSerPheAlaSerAlaGluTyrGlnGluAlaLeuSerArgIleThrSerValValGlnGlnHisGlnGluAlaLeuValProAlaGlnProGlnLeuAsnValCysAsnTrpAlaValMetAlaProThrGlnSerSerThrSerValGlnProAspLysThrArgProCysSerProProValGluLysArgProHisHisAlaSerIleGlyGlnLysHisLysHisArgArgAlaSerLysValSerLeuLysSerValPheArgProGlnArgMetArgArgArgLeuValGlnProTrpGlyProGlnGlnSerGlyProLeuArgSerSerPheSerValProCysLeuGlyValProTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS546838"
    },
    {
      "coordinates": [
        {
          "allele": "TT",
          "end": 2751,
          "referenceAllele": "GC",
          "start": 2749
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004122",
      "geneNCBI_id": 2588,
      "geneSymbol": "GALNS",
      "hgvs": [
        "XM_017023111.2:c.348_349delinsTT"
      ],
      "proteinEffect": {
        "hgvs": "XP_016878600.1:p.Pro117Ter",
        "hgvsWellDefined": "XP_016878600.1:p.Gln117_Leu511delinsGluIleValGlyGlyIleProAspSerGluGlnLeuLeuProGluLeuLeuLysLysAlaGlyTyrValSerLysIleValGlyLysTrpHisLeuGlyHisArgProGlnPheHisProLeuLysHisGlyPheAspGluTrpPheGlySerProAsnCysHisPheGlyProTyrAspAsnLysAlaArgProAsnIleProValTyrArgAspTrpGluMetValGlyArgTyrTyrGluGluPheProIleAsnLeuLysThrGlyGluAlaAsnLeuThrGlnIleTyrLeuGlnGluAlaLeuAspPheIleLysArgGlnAlaArgHisHisProPhePheLeuTyrTrpAlaValAspAlaThrHisAlaProValTyrAlaSerLysProPheLeuGlyThrSerGlnArgGlyArgTyrGlyAspAlaValArgGluIleAspAspSerIleGlyLysIleLeuGluLeuLeuGlnAspLeuHisValAlaAspAsnThrPheValPhePheThrSerAspAsnGlyAlaAlaLeuIleSerAlaProGluGlnGlyGlySerAsnGlyProPheLeuCysGlyLysGlnThrThrPheGluGlyGlyMetArgGluProAlaLeuAlaTrpTrpProGlyHisValThrAlaGlyGlnValSerHisGlnLeuGlySerIleMetAspLeuPheThrThrSerLeuAlaLeuAlaGlyLeuThrProProSerAspArgAlaIleAspGlyLeuAsnLeuLeuProThrLeuLeuGlnGlyArgLeuMetAspArgProIlePheTyrTyrArgGlyAspThrLeuMetAlaAlaThrLeuGlyGlnHisLysAlaHisPheTrpThrTrpThrAsnSerTrpGluAsnPheArgGlnGlyIleAspPheCysProGlyGlnAsnValSerGlyValThrThrHisAsnLeuGluAspHisThrLysLeuProLeuIlePheHisLeuGlyArgAspProGlyGluArgPheProLeuSerPheAlaSerAlaGluTyrGlnGluAlaLeuSerArgIleThrSerValValGlnGlnHisGlnGluAlaLeuValProAlaGlnProGlnLeuAsnValCysAsnTrpAlaValMetGlyProCysAspAspLeuGlnThrProGlyLeuTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS573926"
    },
    {
      "coordinates": [
        {
          "allele": "TT",
          "end": 2751,
          "referenceAllele": "GC",
          "start": 2749
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004122",
      "geneNCBI_id": 2588,
      "geneSymbol": "GALNS",
      "hgvs": [
        "XM_017023112.2:c.348_349delinsTT"
      ],
      "proteinEffect": {
        "hgvs": "XP_016878601.1:p.Pro117Ter",
        "hgvsWellDefined": "XP_016878601.1:p.Gln117_Thr508delinsGluIleValGlyGlyIleProAspSerGluGlnLeuLeuProGluLeuLeuLysLysAlaGlyTyrValSerLysIleValGlyLysTrpHisLeuGlyHisArgProGlnPheHisProLeuLysHisGlyPheAspGluTrpPheGlySerProAsnCysHisPheGlyProTyrAspAsnLysAlaArgProAsnIleProValTyrArgAspTrpGluMetValGlyArgTyrTyrGluGluPheProIleAsnLeuLysThrGlyGluAlaAsnLeuThrGlnIleTyrLeuGlnGluAlaLeuAspPheIleLysArgGlnAlaArgHisHisProPhePheLeuTyrTrpAlaValAspAlaThrHisAlaProValTyrAlaSerLysProPheLeuGlyThrSerGlnArgGlyArgTyrGlyAspAlaValArgGluIleAspAspSerIleGlyLysIleLeuGluLeuLeuGlnAspLeuHisValAlaAspAsnThrPheValPhePheThrSerAspAsnGlyAlaAlaLeuIleSerAlaProGluGlnGlyGlySerAsnGlyProPheLeuCysGlyLysGlnThrThrPheGluGlyGlyMetArgGluProAlaLeuAlaTrpTrpProGlyHisValThrAlaGlyGlnValSerHisGlnLeuGlySerIleMetAspLeuPheThrThrSerLeuAlaLeuAlaGlyLeuThrProProSerAspArgAlaIleAspGlyLeuAsnLeuLeuProThrLeuLeuGlnGlyArgLeuMetAspArgProIlePheTyrTyrArgGlyAspThrLeuMetAlaAlaThrLeuGlyGlnHisLysAlaHisPheTrpThrTrpThrAsnSerTrpGluAsnPheArgGlnGlyIleAspPheCysProGlyGlnAsnValSerGlyValThrThrHisAsnLeuGluAspHisThrLysLeuProLeuIlePheHisLeuGlyArgAspProGlyGluArgPheProLeuSerPheAlaSerAlaGluTyrGlnGluAlaLeuSerArgIleThrSerValValGlnGlnHisGlnGluAlaLeuValProAlaGlnProGlnLeuAsnValCysAsnTrpAlaValMetProGlnArgProSerHisGlnThrTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS573927"
    },
    {
      "coordinates": [
        {
          "allele": "TT",
          "end": 278,
          "referenceAllele": "GC",
          "start": 276
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004122",
      "geneNCBI_id": 2588,
      "geneSymbol": "GALNS",
      "hgvs": [
        "XM_017023113.1:c.-226_-225delinsTT"
      ],
      "proteinEffect": {
        "hgvs": "XP_016878602.1:n.-226_-225delinsTT"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS573928"
    },
    {
      "coordinates": [
        {
          "allele": "TT",
          "end": 401,
          "referenceAllele": "GC",
          "start": 399
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004122",
      "geneNCBI_id": 2588,
      "geneSymbol": "GALNS",
      "hgvs": [
        "NM_000512.5:c.330_331delinsTT"
      ],
      "proteinEffect": {
        "hgvs": "NP_000503.1:p.Pro111Ter",
        "hgvsWellDefined": "NP_000503.1:p.Gln111_His522delinsGluIleValGlyGlyIleProAspSerGluGlnLeuLeuProGluLeuLeuLysLysAlaGlyTyrValSerLysIleValGlyLysTrpHisLeuGlyHisArgProGlnPheHisProLeuLysHisGlyPheAspGluTrpPheGlySerProAsnCysHisPheGlyProTyrAspAsnLysAlaArgProAsnIleProValTyrArgAspTrpGluMetValGlyArgTyrTyrGluGluPheProIleAsnLeuLysThrGlyGluAlaAsnLeuThrGlnIleTyrLeuGlnGluAlaLeuAspPheIleLysArgGlnAlaArgHisHisProPhePheLeuTyrTrpAlaValAspAlaThrHisAlaProValTyrAlaSerLysProPheLeuGlyThrSerGlnArgGlyArgTyrGlyAspAlaValArgGluIleAspAspSerIleGlyLysIleLeuGluLeuLeuGlnAspLeuHisValAlaAspAsnThrPheValPhePheThrSerAspAsnGlyAlaAlaLeuIleSerAlaProGluGlnGlyGlySerAsnGlyProPheLeuCysGlyLysGlnThrThrPheGluGlyGlyMetArgGluProAlaLeuAlaTrpTrpProGlyHisValThrAlaGlyGlnValSerHisGlnLeuGlySerIleMetAspLeuPheThrThrSerLeuAlaLeuAlaGlyLeuThrProProSerAspArgAlaIleAspGlyLeuAsnLeuLeuProThrLeuLeuGlnGlyArgLeuMetAspArgProIlePheTyrTyrArgGlyAspThrLeuMetAlaAlaThrLeuGlyGlnHisLysAlaHisPheTrpThrTrpThrAsnSerTrpGluAsnPheArgGlnGlyIleAspPheCysProGlyGlnAsnValSerGlyValThrThrHisAsnLeuGluAspHisThrLysLeuProLeuIlePheHisLeuGlyArgAspProGlyGluArgPheProLeuSerPheAlaSerAlaGluTyrGlnGluAlaLeuSerArgIleThrSerValValGlnGlnHisGlnGluAlaLeuValProAlaGlnProGlnLeuAsnValCysAsnTrpAlaValMetAsnTrpAlaProProGlyCysGluLysLeuGlyLysCysLeuThrProProGluSerIleProLysLysCysLeuTrpSerHisTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS662466",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000268695.10:c.330_331delinsTT"
          },
          "RefSeq": {
            "hgvs": "NM_000512.5:c.330_331delinsTT"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000268695.5:p.Pro111Ter"
          },
          "RefSeq": {
            "hgvs": "NP_000503.1:p.Pro111Ter"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "TT",
          "end": 277,
          "referenceAllele": "GC",
          "start": 275
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004122",
      "geneNCBI_id": 2588,
      "geneSymbol": "GALNS",
      "hgvs": [
        "NM_001323543.2:c.-226_-225delinsTT"
      ],
      "proteinEffect": {
        "hgvs": "NP_001310472.1:n.-226_-225delinsTT"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS686042"
    },
    {
      "coordinates": [
        {
          "allele": "TT",
          "end": 571,
          "referenceAllele": "GC",
          "start": 569
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004122",
      "geneNCBI_id": 2588,
      "geneSymbol": "GALNS",
      "hgvs": [
        "NM_001323544.2:c.348_349delinsTT"
      ],
      "proteinEffect": {
        "hgvs": "NP_001310473.1:p.Pro117Ter",
        "hgvsWellDefined": "NP_001310473.1:p.Gln117_His528delinsGluIleValGlyGlyIleProAspSerGluGlnLeuLeuProGluLeuLeuLysLysAlaGlyTyrValSerLysIleValGlyLysTrpHisLeuGlyHisArgProGlnPheHisProLeuLysHisGlyPheAspGluTrpPheGlySerProAsnCysHisPheGlyProTyrAspAsnLysAlaArgProAsnIleProValTyrArgAspTrpGluMetValGlyArgTyrTyrGluGluPheProIleAsnLeuLysThrGlyGluAlaAsnLeuThrGlnIleTyrLeuGlnGluAlaLeuAspPheIleLysArgGlnAlaArgHisHisProPhePheLeuTyrTrpAlaValAspAlaThrHisAlaProValTyrAlaSerLysProPheLeuGlyThrSerGlnArgGlyArgTyrGlyAspAlaValArgGluIleAspAspSerIleGlyLysIleLeuGluLeuLeuGlnAspLeuHisValAlaAspAsnThrPheValPhePheThrSerAspAsnGlyAlaAlaLeuIleSerAlaProGluGlnGlyGlySerAsnGlyProPheLeuCysGlyLysGlnThrThrPheGluGlyGlyMetArgGluProAlaLeuAlaTrpTrpProGlyHisValThrAlaGlyGlnValSerHisGlnLeuGlySerIleMetAspLeuPheThrThrSerLeuAlaLeuAlaGlyLeuThrProProSerAspArgAlaIleAspGlyLeuAsnLeuLeuProThrLeuLeuGlnGlyArgLeuMetAspArgProIlePheTyrTyrArgGlyAspThrLeuMetAlaAlaThrLeuGlyGlnHisLysAlaHisPheTrpThrTrpThrAsnSerTrpGluAsnPheArgGlnGlyIleAspPheCysProGlyGlnAsnValSerGlyValThrThrHisAsnLeuGluAspHisThrLysLeuProLeuIlePheHisLeuGlyArgAspProGlyGluArgPheProLeuSerPheAlaSerAlaGluTyrGlnGluAlaLeuSerArgIleThrSerValValGlnGlnHisGlnGluAlaLeuValProAlaGlnProGlnLeuAsnValCysAsnTrpAlaValMetAsnTrpAlaProProGlyCysGluLysLeuGlyLysCysLeuThrProProGluSerIleProLysLysCysLeuTrpSerHisTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS686043"
    }
  ],
  "type": "nucleotide"
}