{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA16618653",
  "communityStandardTitle": [
    "NM_017780.4(CHD7):c.961_962delinsTA (p.Gly321Ter)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=407402[alleleid]",
        "alleleId": 407402,
        "preferredName": "NM_017780.4(CHD7):c.961_962delinsTA (p.Gly321Ter)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/419621",
        "RCV": [
          "RCV000484055"
        ],
        "variationId": 419621
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/1064793996",
        "rs": 1064793996
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "8",
      "coordinates": [
        {
          "allele": "TA",
          "end": 60742394,
          "referenceAllele": "GG",
          "start": 60742392
        }
      ],
      "hgvs": [
        "NC_000008.11:g.60742393_60742394delinsTA",
        "CM000670.2:g.60742393_60742394delinsTA"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000056"
    },
    {
      "chromosome": "8",
      "coordinates": [
        {
          "allele": "TA",
          "end": 61654953,
          "referenceAllele": "GG",
          "start": 61654951
        }
      ],
      "hgvs": [
        "NC_000008.10:g.61654952_61654953delinsTA",
        "CM000670.1:g.61654952_61654953delinsTA"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000032"
    },
    {
      "chromosome": "8",
      "coordinates": [
        {
          "allele": "TA",
          "end": 61817507,
          "referenceAllele": "GG",
          "start": 61817505
        }
      ],
      "hgvs": [
        "NC_000008.9:g.61817506_61817507delinsTA"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000008"
    },
    {
      "coordinates": [
        {
          "allele": "TA",
          "end": 68615,
          "referenceAllele": "GG",
          "start": 68613
        }
      ],
      "hgvs": [
        "NG_007009.1:g.68614_68615delinsTA",
        "LRG_176:g.68614_68615delinsTA"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS000443"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "TA",
          "end": 1475,
          "referenceAllele": "GG",
          "start": 1473
        }
      ],
      "gene": "http://reg.genome.network/gene/GN020626",
      "geneNCBI_id": 55636,
      "geneSymbol": "CHD7",
      "hgvs": [
        "ENST00000695848.1:n.1474_1475delinsTA"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS907345"
    },
    {
      "coordinates": [
        {
          "allele": "TA",
          "end": 1475,
          "referenceAllele": "GG",
          "start": 1473
        }
      ],
      "gene": "http://reg.genome.network/gene/GN020626",
      "geneNCBI_id": 55636,
      "geneSymbol": "CHD7",
      "hgvs": [
        "ENST00000695849.1:n.1474_1475delinsTA"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS907346"
    },
    {
      "coordinates": [
        {
          "allele": "TA",
          "end": 1475,
          "referenceAllele": "GG",
          "start": 1473
        }
      ],
      "gene": "http://reg.genome.network/gene/GN020626",
      "geneNCBI_id": 55636,
      "geneSymbol": "CHD7",
      "hgvs": [
        "ENST00000695853.1:c.961_962delinsTA"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000512218.1:p.Gly321Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS907350"
    },
    {
      "coordinates": [
        {
          "allele": "TA",
          "end": 1512,
          "referenceAllele": "GG",
          "start": 1510
        }
      ],
      "gene": "http://reg.genome.network/gene/GN020626",
      "geneNCBI_id": 55636,
      "geneSymbol": "CHD7",
      "hgvs": [
        "ENST00000700671.1:c.961_962delinsTA"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000515139.1:p.Gly321Ter",
        "hgvsWellDefined": "ENSP00000515139.1:p.Gly321_Asn632del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS911419"
    },
    {
      "coordinates": [
        {
          "allele": "TA",
          "end": 1479,
          "referenceAllele": "GG",
          "start": 1477
        }
      ],
      "gene": "http://reg.genome.network/gene/GN020626",
      "geneNCBI_id": 55636,
      "geneSymbol": "CHD7",
      "hgvs": [
        "ENST00000423902.7:c.961_962delinsTA"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000392028.1:p.Gly321Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS755001",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000423902.7:c.961_962delinsTA"
          },
          "RefSeq": {
            "hgvs": "NM_017780.4:c.961_962delinsTA"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000392028.1:p.Gly321Ter"
          },
          "RefSeq": {
            "hgvs": "NP_060250.2:p.Gly321Ter"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "TA",
          "end": 1441,
          "referenceAllele": "GG",
          "start": 1439
        }
      ],
      "gene": "http://reg.genome.network/gene/GN020626",
      "geneNCBI_id": 55636,
      "geneSymbol": "CHD7",
      "hgvs": [
        "ENST00000423902.6:c.961_962delinsTA"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000392028.1:p.Gly321Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS287994"
    },
    {
      "coordinates": [
        {
          "allele": "TA",
          "end": 1030,
          "referenceAllele": "GG",
          "start": 1028
        }
      ],
      "gene": "http://reg.genome.network/gene/GN020626",
      "geneNCBI_id": 55636,
      "geneSymbol": "CHD7",
      "hgvs": [
        "ENST00000524602.5:c.961_962delinsTA"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000437061.1:p.Gly321Ter",
        "hgvsWellDefined": "ENSP00000437061.1:p.Gly321_Glu948delinsLeuValAsnAsnThrGlyMetAsnGlnAsnLeuGlyLeuThrAsnAsnThrProMetAsnGlnSerValProArgTyrProAsnAlaValGlyPheProSerAsnSerGlyGlnGlyLeuMetHisGlnGlnProIleHisProSerGlySerLeuAsnGlnMetAsnThrGlnThrMetHisProSerGlnProGlnGlyThrTyrAlaSerProProProMetSerProMetLysAlaMetSerAsnProAlaGlyThrProProProGlnValArgProGlySerAlaGlyIleProMetGluValGlySerTyrProAsnMetProHisProGlnProSerHisGlnProProGlyAlaMetGlyIleGlyGlnArgAsnMetGlyProArgAsnMetGlnGlnSerArgProPheIleGlyMetSerSerAlaProArgGluLeuThrGlyHisMetArgProAsnGlyCysProGlyValGlyLeuGlyAspProGlnAlaIleGlnGluArgLeuIleProGlyGlnGlnHisProGlyGlnGlnProSerPheGlnGlnLeuProThrCysProProLeuGlnProHisProGlyLeuHisHisGlnSerSerProProHisProHisHisGlnProTrpAlaGlnLeuHisProSerProGlnAsnThrProGlnLysValProValHisGlnHisSerProSerGluProPheLeuGluLysProValProAspMetThrGlnLysProLysGlnLysArgHisArgCysArgAsnProAsnLysLeuAspIleAsnThrLeuThrGlyGluGluArgValProValValAsnLysArgAsnGlyLysLysMetGlyGlyAlaMetAlaProProMetLysAspLeuProArgTrpLeuGluGluAsnProGluPheAlaValAlaProAspTrpThrAspIleValLysGlnSerGlyPheValProGluSerMetPheAspArgLeuLeuThrGlyProValValArgGlyGluGlyAlaSerArgArgGlyArgArgProLysSerGluIleAlaArgAlaAlaAlaAlaAlaAlaAlaValAlaSerThrSerGlyIleAsnProLeuLeuValAsnSerLeuPheAlaGlyMetAspLeuThrSerLeuGlnAsnLeuGlnAsnLeuGlnSerLeuGlnLeuAlaGlyLeuMetGlyPheProProGlyLeuAlaThrAlaAlaThrAlaGlyGlyAspAlaLysAsnProAlaAlaValLeuProLeuMetLeuProGlyMetAlaGlyLeuProAsnValPheGlyLeuGlyGlyLeuLeuAsnAsnProLeuSerAlaAlaThrGlyAsnThrThrThrAlaSerSerGlnGlyGluProGluAspSerThrSerLysGlyGluGluLysGlyAsnGluAsnGluAspGluAsnLysAspSerGluLysSerThrAspAlaValSerAlaAlaAspSerAlaAsnGlySerValGlyAlaAlaThrAlaProAlaGlyLeuProSerAsnProLeuAlaPheAsnProPheLeuLeuSerThrMetAlaProGlyLeuPheTyrProSerMetPheLeuProProGlyLeuGlyGlyLeuThrLeuProGlyPheProAlaLeuAlaGlyLeuGlnAsnAlaValGlySerSerGluGluLysAlaAlaAspLysAlaGluGlyGlyProPheLysAspGlyGluThrLeuGluGlySerAspAlaGluGluSerLeuAspLysThrAlaGluSerSerLeuLeuGluAspGluIleAlaGlnGlyGluGluLeuAspSerLeuAspGlyGlyAspGluIleGluAsnAsnGluAsnAspGluTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS350734"
    },
    {
      "coordinates": [
        {
          "allele": "TA",
          "end": 962,
          "referenceAllele": "GG",
          "start": 960
        }
      ],
      "gene": "http://reg.genome.network/gene/GN020626",
      "geneNCBI_id": 55636,
      "geneSymbol": "CHD7",
      "hgvs": [
        "ENST00000525508.1:c.961_962delinsTA"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000436027.1:p.Gly321Ter",
        "hgvsWellDefined": "ENSP00000436027.1:p.Gly321_Glu1138delinsLeuValAsnAsnThrGlyMetAsnGlnAsnLeuGlyLeuThrAsnAsnThrProMetAsnGlnSerValProArgTyrProAsnAlaValGlyPheProSerAsnSerGlyGlnGlyLeuMetHisGlnGlnProIleHisProSerGlySerLeuAsnGlnMetAsnThrGlnThrMetHisProSerGlnProGlnGlyThrTyrAlaSerProProProMetSerProMetLysAlaMetSerAsnProAlaGlyThrProProProGlnValArgProGlySerAlaGlyIleProMetGluValGlySerTyrProAsnMetProHisProGlnProSerHisGlnProProGlyAlaMetGlyIleGlyGlnArgAsnMetGlyProArgAsnMetGlnGlnSerArgProPheIleGlyMetSerSerAlaProArgGluLeuThrGlyHisMetArgProAsnGlyCysProGlyValGlyLeuGlyAspProGlnAlaIleGlnGluArgLeuIleProGlyGlnGlnHisProGlyGlnGlnProSerPheGlnGlnLeuProThrCysProProLeuGlnProHisProGlyLeuHisHisGlnSerSerProProHisProHisHisGlnProTrpAlaGlnLeuHisProSerProGlnAsnThrProGlnLysValProValHisGlnHisSerProSerGluProPheLeuGluLysProValProAspMetThrGlnValSerGlyProAsnAlaGlnLeuValLysSerAspAspTyrLeuProSerIleGluGlnGlnProGlnGlnLysLysLysLysLysLysAsnAsnHisIleValAlaGluAspProSerLysGlyPheGlyLysAspAspPheProGlyGlyValAspAsnGlnGluLeuAsnArgAsnSerLeuAspGlySerGlnGluGluLysLysLysLysLysArgSerLysAlaLysLysAspProLysGluProLysGluProLysGluLysLysGluProLysGluProLysThrProLysAlaProLysIleProLysGluProLysGluLysLysAlaLysThrAlaThrProLysProLysSerSerLysLysSerSerAsnLysLysProAspSerGluAlaSerAlaLeuLysLysLysValAsnLysGlyLysThrGluGlySerGluAsnSerAspLeuAspLysThrProProProSerProProProGluGluAspGluAspProGlyValGlnLysArgArgSerSerArgGlnValLysArgLysArgTyrThrGluAspLeuGluPheLysIleSerAspGluGluAlaAspAspAlaAspAlaAlaGlyArgAspSerProSerAsnThrSerGlnSerGluGlnGlnGluSerValAspAlaGluGlyProValValGluLysIleMetSerSerArgSerValLysLysGlnLysGluSerGlyGluGluValGluIleGluGluPheTyrValLysTyrLysAsnPheSerTyrLeuHisCysGlnTrpAlaSerIleGluAspLeuGluLysAspLysArgIleGlnGlnLysIleLysArgPheLysAlaLysGlnGlyGlnAsnLysPheLeuSerGluIleGluAspGluLeuPheAsnProAspTyrValGluValAspArgIleMetAspPheAlaArgSerThrAspAspArgGlyGluProValThrHisTyrLeuValLysTrpCysSerLeuProTyrGluAspSerThrTrpGluArgArgGlnAspIleAspGlnAlaLysIleGluGluPheGluLysLeuMetSerArgGluProGluThrGluArgValGluArgProProAlaAspAspTrpLysLysSerGluSerSerArgGluTyrLysAsnAsnAsnLysLeuArgGluTyrGlnLeuGluGlyValAsnTrpLeuLeuPheAsnTrpTyrAsnMetArgAsnCysIleLeuAlaAspGluMetGlyLeuGlyLysThrIleGlnSerIleThrPheLeuTyrGluIleTyrLeuLysGlyIleHisGlyProPheLeuValIleAlaProLeuSerThrIleProAsnTrpGluArgGluPheArgThrTrpThrGluLeuAsnValValValTyrHisGlySerGlnAlaSerArgArgThrIleGlnLeuTyrGluMetTyrPheLysAspProGlnGlyArgValIleLysGlySerTyrLysPheHisAlaIleIleThrThrPheGluMetIleLeuThrAspCysProGluLeuArgAsnIleProTrpArgCysValValIleAspGluAlaHisArgLeuLysAsnArgAsnCysLysLeuLeuGluGlyLeuLysMetMetAspLeuValSerAspHisIleGlyAspCysThrGluProGluTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS351522"
    },
    {
      "coordinates": [
        {
          "allele": "TA",
          "end": 31,
          "endIntronDirection": "-",
          "endIntronOffset": 425,
          "referenceAllele": "GG",
          "start": 31,
          "startIntronDirection": "-",
          "startIntronOffset": 427
        }
      ],
      "gene": "http://reg.genome.network/gene/GN020626",
      "geneNCBI_id": 55636,
      "geneSymbol": "CHD7",
      "hgvs": [
        "ENST00000527825.1:c.32-427_32-426delinsTA"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS353457"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826957456",
      "coordinates": [
        {
          "allele": "TA",
          "end": 1136,
          "referenceAllele": "GG",
          "start": 1134
        }
      ],
      "gene": "http://reg.genome.network/gene/GN020626",
      "geneNCBI_id": 55636,
      "geneSymbol": "CHD7",
      "hgvs": [
        "NM_001316690.1:c.961_962delinsTA"
      ],
      "proteinEffect": {
        "hgvs": "NP_001303619.1:p.Gly321Ter",
        "hgvsWellDefined": "NP_001303619.1:p.Gly321_Glu948delinsLeuValAsnAsnThrGlyMetAsnGlnAsnLeuGlyLeuThrAsnAsnThrProMetAsnGlnSerValProArgTyrProAsnAlaValGlyPheProSerAsnSerGlyGlnGlyLeuMetHisGlnGlnProIleHisProSerGlySerLeuAsnGlnMetAsnThrGlnThrMetHisProSerGlnProGlnGlyThrTyrAlaSerProProProMetSerProMetLysAlaMetSerAsnProAlaGlyThrProProProGlnValArgProGlySerAlaGlyIleProMetGluValGlySerTyrProAsnMetProHisProGlnProSerHisGlnProProGlyAlaMetGlyIleGlyGlnArgAsnMetGlyProArgAsnMetGlnGlnSerArgProPheIleGlyMetSerSerAlaProArgGluLeuThrGlyHisMetArgProAsnGlyCysProGlyValGlyLeuGlyAspProGlnAlaIleGlnGluArgLeuIleProGlyGlnGlnHisProGlyGlnGlnProSerPheGlnGlnLeuProThrCysProProLeuGlnProHisProGlyLeuHisHisGlnSerSerProProHisProHisHisGlnProTrpAlaGlnLeuHisProSerProGlnAsnThrProGlnLysValProValHisGlnHisSerProSerGluProPheLeuGluLysProValProAspMetThrGlnLysProLysGlnLysArgHisArgCysArgAsnProAsnLysLeuAspIleAsnThrLeuThrGlyGluGluArgValProValValAsnLysArgAsnGlyLysLysMetGlyGlyAlaMetAlaProProMetLysAspLeuProArgTrpLeuGluGluAsnProGluPheAlaValAlaProAspTrpThrAspIleValLysGlnSerGlyPheValProGluSerMetPheAspArgLeuLeuThrGlyProValValArgGlyGluGlyAlaSerArgArgGlyArgArgProLysSerGluIleAlaArgAlaAlaAlaAlaAlaAlaAlaValAlaSerThrSerGlyIleAsnProLeuLeuValAsnSerLeuPheAlaGlyMetAspLeuThrSerLeuGlnAsnLeuGlnAsnLeuGlnSerLeuGlnLeuAlaGlyLeuMetGlyPheProProGlyLeuAlaThrAlaAlaThrAlaGlyGlyAspAlaLysAsnProAlaAlaValLeuProLeuMetLeuProGlyMetAlaGlyLeuProAsnValPheGlyLeuGlyGlyLeuLeuAsnAsnProLeuSerAlaAlaThrGlyAsnThrThrThrAlaSerSerGlnGlyGluProGluAspSerThrSerLysGlyGluGluLysGlyAsnGluAsnGluAspGluAsnLysAspSerGluLysSerThrAspAlaValSerAlaAlaAspSerAlaAsnGlySerValGlyAlaAlaThrAlaProAlaGlyLeuProSerAsnProLeuAlaPheAsnProPheLeuLeuSerThrMetAlaProGlyLeuPheTyrProSerMetPheLeuProProGlyLeuGlyGlyLeuThrLeuProGlyPheProAlaLeuAlaGlyLeuGlnAsnAlaValGlySerSerGluGluLysAlaAlaAspLysAlaGluGlyGlyProPheLysAspGlyGluThrLeuGluGlySerAspAlaGluGluSerLeuAspLysThrAlaGluSerSerLeuLeuGluAspGluIleAlaGlnGlyGluGluLeuAspSerLeuAspGlyGlyAspGluIleGluAsnAsnGluAsnAspGluTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS026606"
    },
    {
      "coordinates": [
        {
          "allele": "TA",
          "end": 1454,
          "referenceAllele": "GG",
          "start": 1452
        }
      ],
      "gene": "http://reg.genome.network/gene/GN020626",
      "geneNCBI_id": 55636,
      "geneSymbol": "CHD7",
      "hgvs": [
        "NM_017780.3:c.961_962delinsTA"
      ],
      "proteinEffect": {
        "hgvs": "NP_060250.2:p.Gly321Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS035187"
    },
    {
      "coordinates": [
        {
          "allele": "TA",
          "end": 1457,
          "referenceAllele": "GG",
          "start": 1455
        }
      ],
      "gene": "http://reg.genome.network/gene/GN020626",
      "geneNCBI_id": 55636,
      "geneSymbol": "CHD7",
      "hgvs": [
        "XM_011517553.1:c.961_962delinsTA"
      ],
      "proteinEffect": {
        "hgvs": "XP_011515855.1:p.Gly321Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS084741"
    },
    {
      "coordinates": [
        {
          "allele": "TA",
          "end": 1364,
          "referenceAllele": "GG",
          "start": 1362
        }
      ],
      "gene": "http://reg.genome.network/gene/GN020626",
      "geneNCBI_id": 55636,
      "geneSymbol": "CHD7",
      "hgvs": [
        "XM_011517554.1:c.961_962delinsTA"
      ],
      "proteinEffect": {
        "hgvs": "XP_011515856.1:p.Gly321Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS084742"
    },
    {
      "coordinates": [
        {
          "allele": "TA",
          "end": 1457,
          "referenceAllele": "GG",
          "start": 1455
        }
      ],
      "gene": "http://reg.genome.network/gene/GN020626",
      "geneNCBI_id": 55636,
      "geneSymbol": "CHD7",
      "hgvs": [
        "XM_011517555.1:c.961_962delinsTA"
      ],
      "proteinEffect": {
        "hgvs": "XP_011515857.1:p.Gly321Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS084743"
    },
    {
      "coordinates": [
        {
          "allele": "TA",
          "end": 1457,
          "referenceAllele": "GG",
          "start": 1455
        }
      ],
      "gene": "http://reg.genome.network/gene/GN020626",
      "geneNCBI_id": 55636,
      "geneSymbol": "CHD7",
      "hgvs": [
        "XM_011517556.1:c.961_962delinsTA"
      ],
      "proteinEffect": {
        "hgvs": "XP_011515858.1:p.Gly321Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS084744"
    },
    {
      "coordinates": [
        {
          "allele": "TA",
          "end": 1457,
          "referenceAllele": "GG",
          "start": 1455
        }
      ],
      "gene": "http://reg.genome.network/gene/GN020626",
      "geneNCBI_id": 55636,
      "geneSymbol": "CHD7",
      "hgvs": [
        "XM_011517560.1:c.961_962delinsTA"
      ],
      "proteinEffect": {
        "hgvs": "XP_011515862.1:p.Gly321Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS084748"
    },
    {
      "coordinates": [
        {
          "allele": "TA",
          "end": 1475,
          "referenceAllele": "GG",
          "start": 1473
        }
      ],
      "gene": "http://reg.genome.network/gene/GN020626",
      "geneNCBI_id": 55636,
      "geneSymbol": "CHD7",
      "hgvs": [
        "XM_011517553.2:c.961_962delinsTA"
      ],
      "proteinEffect": {
        "hgvs": "XP_011515855.1:p.Gly321Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS544575"
    },
    {
      "coordinates": [
        {
          "allele": "TA",
          "end": 1261,
          "referenceAllele": "GG",
          "start": 1259
        }
      ],
      "gene": "http://reg.genome.network/gene/GN020626",
      "geneNCBI_id": 55636,
      "geneSymbol": "CHD7",
      "hgvs": [
        "XM_011517554.3:c.961_962delinsTA"
      ],
      "proteinEffect": {
        "hgvs": "XP_011515856.1:p.Gly321Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS544576"
    },
    {
      "coordinates": [
        {
          "allele": "TA",
          "end": 1475,
          "referenceAllele": "GG",
          "start": 1473
        }
      ],
      "gene": "http://reg.genome.network/gene/GN020626",
      "geneNCBI_id": 55636,
      "geneSymbol": "CHD7",
      "hgvs": [
        "XM_011517555.2:c.961_962delinsTA"
      ],
      "proteinEffect": {
        "hgvs": "XP_011515857.1:p.Gly321Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS544577"
    },
    {
      "coordinates": [
        {
          "allele": "TA",
          "end": 1475,
          "referenceAllele": "GG",
          "start": 1473
        }
      ],
      "gene": "http://reg.genome.network/gene/GN020626",
      "geneNCBI_id": 55636,
      "geneSymbol": "CHD7",
      "hgvs": [
        "XM_011517560.2:c.961_962delinsTA"
      ],
      "proteinEffect": {
        "hgvs": "XP_011515862.1:p.Gly321Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS544578"
    },
    {
      "coordinates": [
        {
          "allele": "TA",
          "end": 1529,
          "referenceAllele": "GG",
          "start": 1527
        }
      ],
      "gene": "http://reg.genome.network/gene/GN020626",
      "geneNCBI_id": 55636,
      "geneSymbol": "CHD7",
      "hgvs": [
        "XM_017013612.1:c.961_962delinsTA"
      ],
      "proteinEffect": {
        "hgvs": "XP_016869101.1:p.Gly321Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS566857"
    },
    {
      "coordinates": [
        {
          "allele": "TA",
          "end": 1475,
          "referenceAllele": "GG",
          "start": 1473
        }
      ],
      "gene": "http://reg.genome.network/gene/GN020626",
      "geneNCBI_id": 55636,
      "geneSymbol": "CHD7",
      "hgvs": [
        "XM_017013613.1:c.961_962delinsTA"
      ],
      "proteinEffect": {
        "hgvs": "XP_016869102.1:p.Gly321Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS566858"
    },
    {
      "coordinates": [
        {
          "allele": "TA",
          "end": 1479,
          "referenceAllele": "GG",
          "start": 1477
        }
      ],
      "gene": "http://reg.genome.network/gene/GN020626",
      "geneNCBI_id": 55636,
      "geneSymbol": "CHD7",
      "hgvs": [
        "NM_017780.4:c.961_962delinsTA"
      ],
      "proteinEffect": {
        "hgvs": "NP_060250.2:p.Gly321Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS669365",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000423902.7:c.961_962delinsTA"
          },
          "RefSeq": {
            "hgvs": "NM_017780.4:c.961_962delinsTA"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000392028.1:p.Gly321Ter"
          },
          "RefSeq": {
            "hgvs": "NP_060250.2:p.Gly321Ter"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}