{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA2573335138",
  "communityStandardTitle": [
    "NM_001160372.4(TRAPPC9):c.2123del (p.His708LeufsTer27)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=2477509[alleleid]",
        "alleleId": 2477509,
        "preferredName": "NM_001160372.4(TRAPPC9):c.2123del (p.His708fs)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/2499527",
        "RCV": [
          "RCV003223456"
        ],
        "variationId": 2499527
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/2539379873",
        "rs": 2539379873
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "8",
      "coordinates": [
        {
          "allele": "",
          "end": 140275813,
          "referenceAllele": "T",
          "start": 140275812
        }
      ],
      "hgvs": [
        "NC_000008.11:g.140275813del",
        "CM000670.2:g.140275813del"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000056"
    },
    {
      "chromosome": "8",
      "coordinates": [
        {
          "allele": "",
          "end": 141285912,
          "referenceAllele": "T",
          "start": 141285911
        }
      ],
      "hgvs": [
        "NC_000008.10:g.141285912del",
        "CM000670.1:g.141285912del"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000032"
    },
    {
      "chromosome": "8",
      "coordinates": [
        {
          "allele": "",
          "end": 141355094,
          "referenceAllele": "T",
          "start": 141355093
        }
      ],
      "hgvs": [
        "NC_000008.9:g.141355094del"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000008"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 187767,
          "referenceAllele": "A",
          "start": 187766
        }
      ],
      "hgvs": [
        "NG_016478.2:g.187767del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS003209"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 187767,
          "referenceAllele": "A",
          "start": 187766
        }
      ],
      "hgvs": [
        "NG_016478.3:g.187767del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS733344"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "",
          "end": 2239,
          "referenceAllele": "A",
          "start": 2238
        }
      ],
      "gene": "http://reg.genome.network/gene/GN030832",
      "geneNCBI_id": 83696,
      "geneSymbol": "TRAPPC9",
      "hgvs": [
        "ENST00000438773.4:c.2123del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000405060.3:p.His708LeufsTer27",
        "hgvsWellDefined": "ENSP00000405060.3:p.[His708_Ser709del;Gln711_Gln725delinsHisCysAsnLeuLeuLeuValMetLysTyrLeuLeuMetTyr;Tyr727_Lys737delinsSerSerPheThrMetGluLysValSerAsn]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS755716",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000438773.4:c.2123del"
          },
          "RefSeq": {
            "hgvs": "NM_001160372.4:c.2123del"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000405060.3:p.His708LeufsTer27"
          },
          "RefSeq": {
            "hgvs": "NP_001153844.1:p.His708LeufsTer27"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 2432,
          "referenceAllele": "A",
          "start": 2431
        }
      ],
      "gene": "http://reg.genome.network/gene/GN030832",
      "geneNCBI_id": 83696,
      "geneSymbol": "TRAPPC9",
      "hgvs": [
        "ENST00000648948.2:c.2123del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000498020.1:p.His708LeufsTer27",
        "hgvsWellDefined": "ENSP00000498020.1:p.[His708_Ser709del;Gln711_Gln725delinsHisCysAsnLeuLeuLeuValMetLysTyrLeuLeuMetTyr;Tyr727_Lys737delinsSerSerPheThrMetGluLysValSerAsn]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS770275"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 2432,
          "referenceAllele": "A",
          "start": 2431
        }
      ],
      "gene": "http://reg.genome.network/gene/GN030832",
      "geneNCBI_id": 83696,
      "geneSymbol": "TRAPPC9",
      "hgvs": [
        "ENST00000389328.8:c.2417del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000373979.4:p.His806LeufsTer27",
        "hgvsWellDefined": "ENSP00000373979.4:p.[His806_Ser807del;Gln809_Gln823delinsHisCysAsnLeuLeuLeuValMetLysTyrLeuLeuMetTyr;Tyr825_Lys835delinsSerSerPheThrMetGluLysValSerAsn]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS274193"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 2257,
          "referenceAllele": "A",
          "start": 2256
        }
      ],
      "gene": "http://reg.genome.network/gene/GN030832",
      "geneNCBI_id": 83696,
      "geneSymbol": "TRAPPC9",
      "hgvs": [
        "ENST00000438773.2:c.2123del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000405060.2:p.His708LeufsTer27",
        "hgvsWellDefined": "ENSP00000405060.2:p.[His708_Ser709del;Gln711_Gln725delinsHisCysAsnLeuLeuLeuValMetLysTyrLeuLeuMetTyr;Tyr727_Lys737delinsSerSerPheThrMetGluLysValSerAsn]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS295100"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1653,
          "referenceAllele": "A",
          "start": 1652
        }
      ],
      "gene": "http://reg.genome.network/gene/GN030832",
      "geneNCBI_id": 83696,
      "geneSymbol": "TRAPPC9",
      "hgvs": [
        "ENST00000520857.5:c.1653del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS347811"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 528,
          "referenceAllele": "A",
          "start": 527
        }
      ],
      "gene": "http://reg.genome.network/gene/GN030832",
      "geneNCBI_id": 83696,
      "geneSymbol": "TRAPPC9",
      "hgvs": [
        "ENST00000521667.5:n.528del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS348440"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 2257,
          "referenceAllele": "A",
          "start": 2256
        }
      ],
      "gene": "http://reg.genome.network/gene/GN030832",
      "geneNCBI_id": 83696,
      "geneSymbol": "TRAPPC9",
      "hgvs": [
        "NM_001160372.2:c.2123del"
      ],
      "proteinEffect": {
        "hgvs": "NP_001153844.1:p.His708LeufsTer27",
        "hgvsWellDefined": "NP_001153844.1:p.[His708_Ser709del;Gln711_Gln725delinsHisCysAsnLeuLeuLeuValMetLysTyrLeuLeuMetTyr;Tyr727_Lys737delinsSerSerPheThrMetGluLysValSerAsn]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS014186"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 2432,
          "referenceAllele": "A",
          "start": 2431
        }
      ],
      "gene": "http://reg.genome.network/gene/GN030832",
      "geneNCBI_id": 83696,
      "geneSymbol": "TRAPPC9",
      "hgvs": [
        "NM_031466.6:c.2417del"
      ],
      "proteinEffect": {
        "hgvs": "NP_113654.4:p.His806LeufsTer27",
        "hgvsWellDefined": "NP_113654.4:p.[His806_Ser807del;Gln809_Gln823delinsHisCysAsnLeuLeuLeuValMetLysTyrLeuLeuMetTyr;Tyr825_Lys835delinsSerSerPheThrMetGluLysValSerAsn]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS038659"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 2224,
          "referenceAllele": "A",
          "start": 2223
        }
      ],
      "gene": "http://reg.genome.network/gene/GN030832",
      "geneNCBI_id": 83696,
      "geneSymbol": "TRAPPC9",
      "hgvs": [
        "XM_005251077.3:c.2123del"
      ],
      "proteinEffect": {
        "hgvs": "XP_005251134.1:p.His708LeufsTer27",
        "hgvsWellDefined": "XP_005251134.1:p.[His708_Ser709del;Gln711_Gln725delinsHisCysAsnLeuLeuLeuValMetLysTyrLeuLeuMetTyr;Tyr727_Lys737delinsSerSerPheThrMetGluLysValSerAsn]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS059413"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 2405,
          "referenceAllele": "A",
          "start": 2404
        }
      ],
      "gene": "http://reg.genome.network/gene/GN030832",
      "geneNCBI_id": 83696,
      "geneSymbol": "TRAPPC9",
      "hgvs": [
        "XM_011517326.1:c.2390del"
      ],
      "proteinEffect": {
        "hgvs": "XP_011515628.1:p.His797LeufsTer27",
        "hgvsWellDefined": "XP_011515628.1:p.[His797_Ser798del;Gln800_Gln814delinsHisCysAsnLeuLeuLeuValMetLysTyrLeuLeuMetTyr;Tyr816_Lys826delinsSerSerPheThrMetGluLysValSerAsn]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS084524"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 2432,
          "referenceAllele": "A",
          "start": 2431
        }
      ],
      "gene": "http://reg.genome.network/gene/GN030832",
      "geneNCBI_id": 83696,
      "geneSymbol": "TRAPPC9",
      "hgvs": [
        "XM_011517327.1:c.2417del"
      ],
      "proteinEffect": {
        "hgvs": "XP_011515629.1:p.His806LeufsTer27",
        "hgvsWellDefined": "XP_011515629.1:p.[His806_Ser807del;Gln809_Gln823delinsHisCysAsnLeuLeuLeuValMetLysTyrLeuLeuMetTyr;Tyr825_Lys835delinsSerSerPheThrMetGluLysValSerAsn]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS084525"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 2432,
          "referenceAllele": "A",
          "start": 2431
        }
      ],
      "gene": "http://reg.genome.network/gene/GN030832",
      "geneNCBI_id": 83696,
      "geneSymbol": "TRAPPC9",
      "hgvs": [
        "XM_011517328.1:c.2417del"
      ],
      "proteinEffect": {
        "hgvs": "XP_011515630.1:p.His806LeufsTer27",
        "hgvsWellDefined": "XP_011515630.1:p.[His806_Ser807del;Gln809_Gln823delinsHisCysAsnLeuLeuLeuValMetLysTyrLeuLeuMetTyr;Tyr825_Lys835delinsSerSerPheThrMetGluLysValSerAsn]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS084526"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1558,
          "referenceAllele": "A",
          "start": 1557
        }
      ],
      "gene": "http://reg.genome.network/gene/GN030832",
      "geneNCBI_id": 83696,
      "geneSymbol": "TRAPPC9",
      "hgvs": [
        "XM_011517329.1:c.1511del"
      ],
      "proteinEffect": {
        "hgvs": "XP_011515631.1:p.His504LeufsTer27",
        "hgvsWellDefined": "XP_011515631.1:p.[His504_Ser505del;Gln507_Gln521delinsHisCysAsnLeuLeuLeuValMetLysTyrLeuLeuMetTyr;Tyr523_Lys533delinsSerSerPheThrMetGluLysValSerAsn]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS084527"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 784,
          "referenceAllele": "A",
          "start": 783
        }
      ],
      "gene": "http://reg.genome.network/gene/GN030832",
      "geneNCBI_id": 83696,
      "geneSymbol": "TRAPPC9",
      "hgvs": [
        "XM_011517330.1:c.572del"
      ],
      "proteinEffect": {
        "hgvs": "XP_011515632.1:p.His191LeufsTer27",
        "hgvsWellDefined": "XP_011515632.1:p.[His191_Ser192del;Gln194_Gln208delinsHisCysAsnLeuLeuLeuValMetLysTyrLeuLeuMetTyr;Tyr210_Lys220delinsSerSerPheThrMetGluLysValSerAsn]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS084528"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 2432,
          "referenceAllele": "A",
          "start": 2431
        }
      ],
      "gene": "http://reg.genome.network/gene/GN030832",
      "geneNCBI_id": 83696,
      "geneSymbol": "TRAPPC9",
      "hgvs": [
        "XR_928355.1:n.2432del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS124760"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1230,
          "endIntronDirection": "-",
          "endIntronOffset": 5821,
          "referenceAllele": "T",
          "start": 1230,
          "startIntronDirection": "-",
          "startIntronOffset": 5822
        }
      ],
      "hgvs": [
        "XR_928701.1:n.1231-5822del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS125105"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1230,
          "endIntronDirection": "-",
          "endIntronOffset": 5821,
          "referenceAllele": "T",
          "start": 1230,
          "startIntronDirection": "-",
          "startIntronOffset": 5822
        }
      ],
      "hgvs": [
        "XR_928702.1:n.1231-5822del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS125106"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 2257,
          "referenceAllele": "A",
          "start": 2256
        }
      ],
      "gene": "http://reg.genome.network/gene/GN030832",
      "geneNCBI_id": 83696,
      "geneSymbol": "TRAPPC9",
      "hgvs": [
        "NM_001160372.3:c.2123del"
      ],
      "proteinEffect": {
        "hgvs": "NP_001153844.1:p.His708LeufsTer27",
        "hgvsWellDefined": "NP_001153844.1:p.[His708_Ser709del;Gln711_Gln725delinsHisCysAsnLeuLeuLeuValMetLysTyrLeuLeuMetTyr;Tyr727_Lys737delinsSerSerPheThrMetGluLysValSerAsn]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS511642"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 2230,
          "referenceAllele": "A",
          "start": 2229
        }
      ],
      "gene": "http://reg.genome.network/gene/GN030832",
      "geneNCBI_id": 83696,
      "geneSymbol": "TRAPPC9",
      "hgvs": [
        "NM_001321646.1:c.2096del"
      ],
      "proteinEffect": {
        "hgvs": "NP_001308575.1:p.His699LeufsTer27",
        "hgvsWellDefined": "NP_001308575.1:p.[His699_Ser700del;Gln702_Gln716delinsHisCysAsnLeuLeuLeuValMetLysTyrLeuLeuMetTyr;Tyr718_Lys728delinsSerSerPheThrMetGluLysValSerAsn]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS514407"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 2432,
          "referenceAllele": "A",
          "start": 2431
        }
      ],
      "gene": "http://reg.genome.network/gene/GN030832",
      "geneNCBI_id": 83696,
      "geneSymbol": "TRAPPC9",
      "hgvs": [
        "NM_031466.7:c.2417del"
      ],
      "proteinEffect": {
        "hgvs": "NP_113654.4:p.His806LeufsTer27",
        "hgvsWellDefined": "NP_113654.4:p.[His806_Ser807del;Gln809_Gln823delinsHisCysAsnLeuLeuLeuValMetLysTyrLeuLeuMetTyr;Tyr825_Lys835delinsSerSerPheThrMetGluLysValSerAsn]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS526272"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 2405,
          "referenceAllele": "A",
          "start": 2404
        }
      ],
      "gene": "http://reg.genome.network/gene/GN030832",
      "geneNCBI_id": 83696,
      "geneSymbol": "TRAPPC9",
      "hgvs": [
        "XM_011517326.2:c.2390del"
      ],
      "proteinEffect": {
        "hgvs": "XP_011515628.1:p.His797LeufsTer27",
        "hgvsWellDefined": "XP_011515628.1:p.[His797_Ser798del;Gln800_Gln814delinsHisCysAsnLeuLeuLeuValMetLysTyrLeuLeuMetTyr;Tyr816_Lys826delinsSerSerPheThrMetGluLysValSerAsn]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS544508"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 2432,
          "referenceAllele": "A",
          "start": 2431
        }
      ],
      "gene": "http://reg.genome.network/gene/GN030832",
      "geneNCBI_id": 83696,
      "geneSymbol": "TRAPPC9",
      "hgvs": [
        "XM_011517328.2:c.2417del"
      ],
      "proteinEffect": {
        "hgvs": "XP_011515630.1:p.His806LeufsTer27",
        "hgvsWellDefined": "XP_011515630.1:p.[His806_Ser807del;Gln809_Gln823delinsHisCysAsnLeuLeuLeuValMetLysTyrLeuLeuMetTyr;Tyr825_Lys835delinsSerSerPheThrMetGluLysValSerAsn]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS544509"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 797,
          "referenceAllele": "A",
          "start": 796
        }
      ],
      "gene": "http://reg.genome.network/gene/GN030832",
      "geneNCBI_id": 83696,
      "geneSymbol": "TRAPPC9",
      "hgvs": [
        "XM_011517330.2:c.572del"
      ],
      "proteinEffect": {
        "hgvs": "XP_011515632.1:p.His191LeufsTer27",
        "hgvsWellDefined": "XP_011515632.1:p.[His191_Ser192del;Gln194_Gln208delinsHisCysAsnLeuLeuLeuValMetLysTyrLeuLeuMetTyr;Tyr210_Lys220delinsSerSerPheThrMetGluLysValSerAsn]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS544510"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 2432,
          "referenceAllele": "A",
          "start": 2431
        }
      ],
      "gene": "http://reg.genome.network/gene/GN030832",
      "geneNCBI_id": 83696,
      "geneSymbol": "TRAPPC9",
      "hgvs": [
        "XM_017013893.1:c.2417del"
      ],
      "proteinEffect": {
        "hgvs": "XP_016869382.1:p.His806LeufsTer27",
        "hgvsWellDefined": "XP_016869382.1:p.[His806_Ser807del;Gln809_Gln823delinsHisCysAsnLeuLeuLeuValMetLysTyrLeuLeuMetTyr;Tyr825_Lys835delinsSerSerPheThrMetGluLysValSerAsn]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS567029"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1122,
          "referenceAllele": "A",
          "start": 1121
        }
      ],
      "gene": "http://reg.genome.network/gene/GN030832",
      "geneNCBI_id": 83696,
      "geneSymbol": "TRAPPC9",
      "hgvs": [
        "XM_017013894.2:c.743del"
      ],
      "proteinEffect": {
        "hgvs": "XP_016869383.1:p.His248LeufsTer27",
        "hgvsWellDefined": "XP_016869383.1:p.[His248_Ser249del;Gln251_Gln265delinsHisCysAsnLeuLeuLeuValMetLysTyrLeuLeuMetTyr;Tyr267_Lys277delinsSerSerPheThrMetGluLysValSerAsn]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS567030"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 2748,
          "endIntronDirection": "-",
          "endIntronOffset": 5821,
          "referenceAllele": "T",
          "start": 2748,
          "startIntronDirection": "-",
          "startIntronOffset": 5822
        }
      ],
      "hgvs": [
        "XR_001746116.1:n.2749-5822del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS594485"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 2748,
          "endIntronDirection": "-",
          "endIntronOffset": 5821,
          "referenceAllele": "T",
          "start": 2748,
          "startIntronDirection": "-",
          "startIntronOffset": 5822
        }
      ],
      "hgvs": [
        "XR_001746117.1:n.2749-5822del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS594486"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 2432,
          "referenceAllele": "A",
          "start": 2431
        }
      ],
      "gene": "http://reg.genome.network/gene/GN030832",
      "geneNCBI_id": 83696,
      "geneSymbol": "TRAPPC9",
      "hgvs": [
        "XR_928355.2:n.2432del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS608840"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1169,
          "endIntronDirection": "-",
          "endIntronOffset": 5821,
          "referenceAllele": "T",
          "start": 1169,
          "startIntronDirection": "-",
          "startIntronOffset": 5822
        }
      ],
      "hgvs": [
        "XR_928701.2:n.1170-5822del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS608980"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 2239,
          "referenceAllele": "A",
          "start": 2238
        }
      ],
      "gene": "http://reg.genome.network/gene/GN030832",
      "geneNCBI_id": 83696,
      "geneSymbol": "TRAPPC9",
      "hgvs": [
        "NM_001160372.4:c.2123del"
      ],
      "proteinEffect": {
        "hgvs": "NP_001153844.1:p.His708LeufsTer27",
        "hgvsWellDefined": "NP_001153844.1:p.[His708_Ser709del;Gln711_Gln725delinsHisCysAsnLeuLeuLeuValMetLysTyrLeuLeuMetTyr;Tyr727_Lys737delinsSerSerPheThrMetGluLysValSerAsn]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS678151",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000438773.4:c.2123del"
          },
          "RefSeq": {
            "hgvs": "NM_001160372.4:c.2123del"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000405060.3:p.His708LeufsTer27"
          },
          "RefSeq": {
            "hgvs": "NP_001153844.1:p.His708LeufsTer27"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 2212,
          "referenceAllele": "A",
          "start": 2211
        }
      ],
      "gene": "http://reg.genome.network/gene/GN030832",
      "geneNCBI_id": 83696,
      "geneSymbol": "TRAPPC9",
      "hgvs": [
        "NM_001321646.2:c.2096del"
      ],
      "proteinEffect": {
        "hgvs": "NP_001308575.1:p.His699LeufsTer27",
        "hgvsWellDefined": "NP_001308575.1:p.[His699_Ser700del;Gln702_Gln716delinsHisCysAsnLeuLeuLeuValMetLysTyrLeuLeuMetTyr;Tyr718_Lys728delinsSerSerPheThrMetGluLysValSerAsn]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS685425"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 2260,
          "referenceAllele": "A",
          "start": 2259
        }
      ],
      "gene": "http://reg.genome.network/gene/GN030832",
      "geneNCBI_id": 83696,
      "geneSymbol": "TRAPPC9",
      "hgvs": [
        "NM_001374682.1:c.2144del"
      ],
      "proteinEffect": {
        "hgvs": "NP_001361611.1:p.His715LeufsTer27",
        "hgvsWellDefined": "NP_001361611.1:p.[His715_Ser716del;Gln718_Gln732delinsHisCysAsnLeuLeuLeuValMetLysTyrLeuLeuMetTyr;Tyr734_Lys744delinsSerSerPheThrMetGluLysValSerAsn]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS693343"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 2239,
          "referenceAllele": "A",
          "start": 2238
        }
      ],
      "gene": "http://reg.genome.network/gene/GN030832",
      "geneNCBI_id": 83696,
      "geneSymbol": "TRAPPC9",
      "hgvs": [
        "NM_001374683.1:c.2123del"
      ],
      "proteinEffect": {
        "hgvs": "NP_001361612.1:p.His708LeufsTer27",
        "hgvsWellDefined": "NP_001361612.1:p.[His708_Ser709del;Gln711_Gln725delinsHisCysAsnLeuLeuLeuValMetLysTyrLeuLeuMetTyr;Tyr727_Lys737delinsSerSerPheThrMetGluLysValSerAsn]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS693344"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 2095,
          "referenceAllele": "A",
          "start": 2094
        }
      ],
      "gene": "http://reg.genome.network/gene/GN030832",
      "geneNCBI_id": 83696,
      "geneSymbol": "TRAPPC9",
      "hgvs": [
        "NM_001374684.1:c.1979del"
      ],
      "proteinEffect": {
        "hgvs": "NP_001361613.1:p.His660LeufsTer27",
        "hgvsWellDefined": "NP_001361613.1:p.[His660_Ser661del;Gln663_Gln677delinsHisCysAsnLeuLeuLeuValMetLysTyrLeuLeuMetTyr;Tyr679_Lys689delinsSerSerPheThrMetGluLysValSerAsn]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS693345"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 2432,
          "referenceAllele": "A",
          "start": 2431
        }
      ],
      "gene": "http://reg.genome.network/gene/GN030832",
      "geneNCBI_id": 83696,
      "geneSymbol": "TRAPPC9",
      "hgvs": [
        "NM_031466.8:c.2123del"
      ],
      "proteinEffect": {
        "hgvs": "NP_113654.5:p.His708LeufsTer27",
        "hgvsWellDefined": "NP_113654.5:p.[His708_Ser709del;Gln711_Gln725delinsHisCysAsnLeuLeuLeuValMetLysTyrLeuLeuMetTyr;Tyr727_Lys737delinsSerSerPheThrMetGluLysValSerAsn]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS698955"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 2212,
          "referenceAllele": "A",
          "start": 2211
        }
      ],
      "gene": "http://reg.genome.network/gene/GN030832",
      "geneNCBI_id": 83696,
      "geneSymbol": "TRAPPC9",
      "hgvs": [
        "NR_164662.1:n.2212del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS705760"
    }
  ],
  "type": "nucleotide"
}