{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA645372708",
  "communityStandardTitle": [
    "NM_004826.4(ECEL1):c.[797_801delinsGCT;869A>G] (p.Asp266GlyfsTer15)"
  ],
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    {
      "chromosome": "2",
      "coordinates": [
        {
          "allele": "C",
          "end": 232485078,
          "referenceAllele": "T",
          "start": 232485077
        },
        {
          "allele": "AGC",
          "end": 232485257,
          "referenceAllele": "CCCAT",
          "start": 232485252
        }
      ],
      "hgvs": [
        "NC_000002.12:g.[232485078T>C;232485253_232485257delinsAGC]",
        "CM000664.2:g.[232485078T>C;232485253_232485257delinsAGC]"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000050"
    },
    {
      "chromosome": "2",
      "coordinates": [
        {
          "allele": "C",
          "end": 233349788,
          "referenceAllele": "T",
          "start": 233349787
        },
        {
          "allele": "AGC",
          "end": 233349967,
          "referenceAllele": "CCCAT",
          "start": 233349962
        }
      ],
      "hgvs": [
        "NC_000002.11:g.[233349788T>C;233349963_233349967delinsAGC]",
        "CM000664.1:g.[233349788T>C;233349963_233349967delinsAGC]"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000026"
    },
    {
      "chromosome": "2",
      "coordinates": [
        {
          "allele": "C",
          "end": 233058032,
          "referenceAllele": "T",
          "start": 233058031
        },
        {
          "allele": "AGC",
          "end": 233058211,
          "referenceAllele": "CCCAT",
          "start": 233058206
        }
      ],
      "hgvs": [
        "NC_000002.10:g.[233058032T>C;233058207_233058211delinsAGC]"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000002"
    },
    {
      "coordinates": [
        {
          "allele": "GCT",
          "end": 7607,
          "referenceAllele": "ATGGG",
          "start": 7602
        },
        {
          "allele": "G",
          "end": 7782,
          "referenceAllele": "A",
          "start": 7781
        }
      ],
      "hgvs": [
        "NG_034065.1:g.[7603_7607delinsGCT;7782A>G]"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS005725"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "GCT",
          "end": 1018,
          "referenceAllele": "ATGGG",
          "start": 1013
        },
        {
          "allele": "G",
          "end": 1086,
          "referenceAllele": "A",
          "start": 1085
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003147",
      "geneNCBI_id": 9427,
      "geneSymbol": "ECEL1",
      "hgvs": [
        "ENST00000304546.6:c.[797_801delinsGCT;869A>G]"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000302051.1:p.Asp266GlyfsTer15",
        "hgvsWellDefined": "ENSP00000302051.1:p.[Asp266del;Leu268_Leu270delinsSerHis;Glu272Ala;Thr274_Asp280del;Ser283_Arg291delinsPro;Phe293_Glu295delinsPro;Val297_Leu298del;Leu300_Leu301del;Ala303_Gln319del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS745117",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000304546.6:c.[797_801delinsGCT;869A>G]"
          },
          "RefSeq": {
            "hgvs": "NM_004826.4:c.[797_801delinsGCT;869A>G]"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000302051.1:p.Asp266GlyfsTer15"
          },
          "RefSeq": {
            "hgvs": "NP_004817.2:p.Asp266GlyfsTer15"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "GCT",
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          "referenceAllele": "ATGGG",
          "start": 1007
        },
        {
          "allele": "G",
          "end": 1080,
          "referenceAllele": "A",
          "start": 1079
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003147",
      "geneNCBI_id": 9427,
      "geneSymbol": "ECEL1",
      "hgvs": [
        "ENST00000304546.5:c.[797_801delinsGCT;869A>G]"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000302051.1:p.Asp266GlyfsTer15",
        "hgvsWellDefined": "ENSP00000302051.1:p.[Asp266del;Leu268_Leu270delinsSerHis;Glu272Ala;Thr274_Asp280del;Ser283_Arg291delinsPro;Phe293_Glu295delinsPro;Val297_Leu298del;Leu300_Leu301del;Ala303_Gln319del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS255471"
    },
    {
      "coordinates": [
        {
          "allele": "GCT",
          "end": 801,
          "referenceAllele": "ATGGG",
          "start": 796
        },
        {
          "allele": "G",
          "end": 869,
          "referenceAllele": "A",
          "start": 868
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003147",
      "geneNCBI_id": 9427,
      "geneSymbol": "ECEL1",
      "hgvs": [
        "ENST00000409941.1:c.[797_801delinsGCT;869A>G]"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000386333.1:p.Asp266GlyfsTer15",
        "hgvsWellDefined": "ENSP00000386333.1:p.[Asp266del;Leu268_Leu270delinsSerHis;Glu272Ala;Thr274_Asp280del;Ser283_Arg291delinsPro;Phe293_Glu295delinsPro;Val297_Leu298del;Leu300_Leu301del;Ala303_Gln319del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS281982"
    },
    {
      "coordinates": [
        {
          "allele": "GCT",
          "end": 1005,
          "referenceAllele": "ATGGG",
          "start": 1000
        },
        {
          "allele": "G",
          "end": 1180,
          "referenceAllele": "A",
          "start": 1179
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003147",
      "geneNCBI_id": 9427,
      "geneSymbol": "ECEL1",
      "hgvs": [
        "ENST00000482346.1:n.[1001_1005delinsGCT;1180A>G]"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS322064"
    },
    {
      "coordinates": [
        {
          "allele": "GCT",
          "end": 1043,
          "referenceAllele": "ATGGG",
          "start": 1038
        },
        {
          "allele": "G",
          "end": 1111,
          "referenceAllele": "A",
          "start": 1110
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003147",
      "geneNCBI_id": 9427,
      "geneSymbol": "ECEL1",
      "hgvs": [
        "NM_001290787.1:c.[797_801delinsGCT;869A>G]"
      ],
      "proteinEffect": {
        "hgvs": "NP_001277716.1:p.Asp266GlyfsTer15",
        "hgvsWellDefined": "NP_001277716.1:p.[Asp266del;Leu268_Leu270delinsSerHis;Glu272Ala;Thr274_Asp280del;Ser283_Arg291delinsPro;Phe293_Glu295delinsPro;Val297_Leu298del;Leu300_Leu301del;Ala303_Gln319del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS024149"
    },
    {
      "coordinates": [
        {
          "allele": "GCT",
          "end": 1043,
          "referenceAllele": "ATGGG",
          "start": 1038
        },
        {
          "allele": "G",
          "end": 1111,
          "referenceAllele": "A",
          "start": 1110
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003147",
      "geneNCBI_id": 9427,
      "geneSymbol": "ECEL1",
      "hgvs": [
        "NM_004826.3:c.[797_801delinsGCT;869A>G]"
      ],
      "proteinEffect": {
        "hgvs": "NP_004817.2:p.Asp266GlyfsTer15",
        "hgvsWellDefined": "NP_004817.2:p.[Asp266del;Leu268_Leu270delinsSerHis;Glu272Ala;Thr274_Asp280del;Ser283_Arg291delinsPro;Phe293_Glu295delinsPro;Val297_Leu298del;Leu300_Leu301del;Ala303_Gln319del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS029971"
    },
    {
      "coordinates": [
        {
          "allele": "GCT",
          "end": 1018,
          "referenceAllele": "ATGGG",
          "start": 1013
        },
        {
          "allele": "G",
          "end": 1086,
          "referenceAllele": "A",
          "start": 1085
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003147",
      "geneNCBI_id": 9427,
      "geneSymbol": "ECEL1",
      "hgvs": [
        "NM_004826.4:c.[797_801delinsGCT;869A>G]"
      ],
      "proteinEffect": {
        "hgvs": "NP_004817.2:p.Asp266GlyfsTer15",
        "hgvsWellDefined": "NP_004817.2:p.[Asp266del;Leu268_Leu270delinsSerHis;Glu272Ala;Thr274_Asp280del;Ser283_Arg291delinsPro;Phe293_Glu295delinsPro;Val297_Leu298del;Leu300_Leu301del;Ala303_Gln319del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS666676",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000304546.6:c.[797_801delinsGCT;869A>G]"
          },
          "RefSeq": {
            "hgvs": "NM_004826.4:c.[797_801delinsGCT;869A>G]"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000302051.1:p.Asp266GlyfsTer15"
          },
          "RefSeq": {
            "hgvs": "NP_004817.2:p.Asp266GlyfsTer15"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "GCT",
          "end": 1018,
          "referenceAllele": "ATGGG",
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        },
        {
          "allele": "G",
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        }
      ],
      "gene": "http://reg.genome.network/gene/GN003147",
      "geneNCBI_id": 9427,
      "geneSymbol": "ECEL1",
      "hgvs": [
        "NM_001290787.2:c.[797_801delinsGCT;869A>G]"
      ],
      "proteinEffect": {
        "hgvs": "NP_001277716.1:p.Asp266GlyfsTer15",
        "hgvsWellDefined": "NP_001277716.1:p.[Asp266del;Leu268_Leu270delinsSerHis;Glu272Ala;Thr274_Asp280del;Ser283_Arg291delinsPro;Phe293_Glu295delinsPro;Val297_Leu298del;Leu300_Leu301del;Ala303_Gln319del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS682769"
    }
  ],
  "type": "nucleotide"
}