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        "hgvsWellDefined": "XP_016862360.1:p.[Thr338_Val342delinsArg;Lys344_Val347delinsGlnSerAla;Met349_Asp359del;Thr361_Thr368del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS561784"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1236,
          "referenceAllele": "AC",
          "start": 1234
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006901",
      "geneNCBI_id": 5648,
      "geneSymbol": "MASP1",
      "hgvs": [
        "XM_017006872.1:c.653_654del"
      ],
      "proteinEffect": {
        "hgvs": "XP_016862361.1:p.Thr218ArgfsTer8",
        "hgvsWellDefined": "XP_016862361.1:p.[Thr218_Val222delinsArg;Lys224_Val227delinsGlnSerAla;Met229_Asp239del;Thr241_Thr248del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS561785"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1098,
          "referenceAllele": "AC",
          "start": 1096
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006901",
      "geneNCBI_id": 5648,
      "geneSymbol": "MASP1",
      "hgvs": [
        "NM_139125.4:c.992_993del"
      ],
      "proteinEffect": {
        "hgvs": "NP_624302.1:p.Thr331ArgfsTer8",
        "hgvsWellDefined": "NP_624302.1:p.[Thr331_Val335delinsArg;Lys337_Val340delinsGlnSerAla;Met342_Asp352del;Thr354_Thr361del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS699844",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000296280.11:c.992_993del"
          },
          "RefSeq": {
            "hgvs": "NM_139125.4:c.992_993del"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000296280.7:p.Thr331ArgfsTer8"
          },
          "RefSeq": {
            "hgvs": "NP_624302.1:p.Thr331ArgfsTer8"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 866,
          "referenceAllele": "AC",
          "start": 864
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006901",
      "geneNCBI_id": 5648,
      "geneSymbol": "MASP1",
      "hgvs": [
        "NR_033519.2:n.865_866del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS702138"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1098,
          "referenceAllele": "AC",
          "start": 1096
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006901",
      "geneNCBI_id": 5648,
      "geneSymbol": "MASP1",
      "hgvs": [
        "NM_001031849.3:c.992_993del"
      ],
      "proteinEffect": {
        "hgvs": "NP_001027019.1:p.Thr331ArgfsTer8",
        "hgvsWellDefined": "NP_001027019.1:p.[Thr331_Val335delinsArg;Lys337_Val340delinsGlnSerAla;Met342_Asp352del;Thr354_Thr361del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS711495"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1098,
          "referenceAllele": "AC",
          "start": 1096
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006901",
      "geneNCBI_id": 5648,
      "geneSymbol": "MASP1",
      "hgvs": [
        "NM_001879.6:c.992_993del"
      ],
      "proteinEffect": {
        "hgvs": "NP_001870.3:p.Thr331ArgfsTer8",
        "hgvsWellDefined": "NP_001870.3:p.[Thr331_Val335delinsArg;Lys337_Val340delinsGlnSerAla;Met342_Asp352del;Thr354_Thr361del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS727218",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Plus Clinical",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000337774.10:c.992_993del"
          },
          "RefSeq": {
            "hgvs": "NM_001879.6:c.992_993del"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000336792.5:p.Thr331ArgfsTer8"
          },
          "RefSeq": {
            "hgvs": "NP_001870.3:p.Thr331ArgfsTer8"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}