{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA347342",
  "communityStandardTitle": [
    "NM_020533.3(MCOLN1):c.163_197delinsTCA (p.Lys55SerfsTer22)"
  ],
  "externalRecords": {
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      {
        "@id": "http://myvariant.info/v1/variant/chr19:g.7589978_7590012delinsTCA?assembly=hg19",
        "id": "chr19:g.7589978_7590012delinsTCA"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr19:g.7525092_7525126delinsTCA?assembly=hg38",
        "id": "chr19:g.7525092_7525126delinsTCA"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/797044820",
        "rs": 797044820
      }
    ]
  },
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    {
      "chromosome": "19",
      "coordinates": [
        {
          "allele": "TCA",
          "end": 7525126,
          "referenceAllele": "AAGTTTCGAGCCAAGGGCCGCAAGCCCTGCAAGCT",
          "start": 7525091
        }
      ],
      "hgvs": [
        "NC_000019.10:g.7525092_7525126delinsTCA",
        "CM000681.2:g.7525092_7525126delinsTCA"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000067"
    },
    {
      "chromosome": "19",
      "coordinates": [
        {
          "allele": "TCA",
          "end": 7590012,
          "referenceAllele": "AAGTTTCGAGCCAAGGGCCGCAAGCCCTGCAAGCT",
          "start": 7589977
        }
      ],
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        "NC_000019.9:g.7589978_7590012delinsTCA",
        "CM000681.1:g.7589978_7590012delinsTCA"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000043"
    },
    {
      "chromosome": "19",
      "coordinates": [
        {
          "allele": "TCA",
          "end": 7496012,
          "referenceAllele": "AAGTTTCGAGCCAAGGGCCGCAAGCCCTGCAAGCT",
          "start": 7495977
        }
      ],
      "hgvs": [
        "NC_000019.8:g.7495978_7496012delinsTCA"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000019"
    },
    {
      "coordinates": [
        {
          "allele": "TCA",
          "end": 7517,
          "referenceAllele": "AAGTTTCGAGCCAAGGGCCGCAAGCCCTGCAAGCT",
          "start": 7482
        }
      ],
      "hgvs": [
        "NG_015806.1:g.7483_7517delinsTCA"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS002838"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "TCA",
          "end": 324,
          "referenceAllele": "AAGTTTCGAGCCAAGGGCCGCAAGCCCTGCAAGCT",
          "start": 289
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013356",
      "geneNCBI_id": 57192,
      "geneSymbol": "MCOLN1",
      "hgvs": [
        "ENST00000264079.11:c.163_197delinsTCA"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000264079.5:p.Lys55SerfsTer22",
        "hgvsWellDefined": "ENSP00000264079.5:p.[Lys55_Arg57delinsSerAspAla;Lys59Ser;Arg61_Lys62delinsGlnAsp;Cys64_Leu74delinsGlyGlyHisGlyAlaAlaHisPro;Val76_Val78delinsTrpAla;Leu80_Glu95del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS742617",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000264079.11:c.163_197delinsTCA"
          },
          "RefSeq": {
            "hgvs": "NM_020533.3:c.163_197delinsTCA"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000264079.5:p.Lys55SerfsTer22"
          },
          "RefSeq": {
            "hgvs": "NP_065394.1:p.Lys55SerfsTer22"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "TCA",
          "end": 322,
          "referenceAllele": "AAGTTTCGAGCCAAGGGCCGCAAGCCCTGCAAGCT",
          "start": 287
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013356",
      "geneNCBI_id": 57192,
      "geneSymbol": "MCOLN1",
      "hgvs": [
        "ENST00000264079.10:c.163_197delinsTCA"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000264079.5:p.Lys55SerfsTer22",
        "hgvsWellDefined": "ENSP00000264079.5:p.[Lys55_Arg57delinsSerAspAla;Lys59Ser;Arg61_Lys62delinsGlnAsp;Cys64_Leu74delinsGlyGlyHisGlyAlaAlaHisPro;Val76_Val78delinsTrpAla;Leu80_Glu95del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS251414"
    },
    {
      "coordinates": [
        {
          "allele": "TCA",
          "end": 277,
          "referenceAllele": "AAGTTTCGAGCCAAGGGCCGCAAGCCCTGCAAGCT",
          "start": 242
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013356",
      "geneNCBI_id": 57192,
      "geneSymbol": "MCOLN1",
      "hgvs": [
        "ENST00000394321.9:n.243_277delinsTCA"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS276117"
    },
    {
      "coordinates": [
        {
          "allele": "TCA",
          "end": 313,
          "referenceAllele": "AAGTTTCGAGCCAAGGGCCGCAAGCCCTGCAAGCT",
          "start": 278
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013356",
      "geneNCBI_id": 57192,
      "geneSymbol": "MCOLN1",
      "hgvs": [
        "ENST00000596390.1:n.279_313delinsTCA"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS395509"
    },
    {
      "coordinates": [
        {
          "allele": "TCA",
          "end": 261,
          "referenceAllele": "AAGTTTCGAGCCAAGGGCCGCAAGCCCTGCAAGCT",
          "start": 226
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013356",
      "geneNCBI_id": 57192,
      "geneSymbol": "MCOLN1",
      "hgvs": [
        "ENST00000601003.1:c.163_197delinsTCA"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000469074.1:p.Lys55SerfsTer22",
        "hgvsWellDefined": "ENSP00000469074.1:p.[Lys55_Arg57delinsSerAspAla;Lys59Ser;Arg61_Lys62delinsGlnAsp;Cys64_Leu74delinsGlyGlyHisGlyAlaAlaHisPro;Val76_Val78delinsTrpAla;Leu80_Glu95del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS397535"
    },
    {
      "coordinates": [
        {
          "allele": "TCA",
          "end": 338,
          "referenceAllele": "AAGTTTCGAGCCAAGGGCCGCAAGCCCTGCAAGCT",
          "start": 303
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013356",
      "geneNCBI_id": 57192,
      "geneSymbol": "MCOLN1",
      "hgvs": [
        "NM_020533.2:c.163_197delinsTCA"
      ],
      "proteinEffect": {
        "hgvs": "NP_065394.1:p.Lys55SerfsTer22",
        "hgvsWellDefined": "NP_065394.1:p.[Lys55_Arg57delinsSerAspAla;Lys59Ser;Arg61_Lys62delinsGlnAsp;Cys64_Leu74delinsGlyGlyHisGlyAlaAlaHisPro;Val76_Val78delinsTrpAla;Leu80_Glu95del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS036449"
    },
    {
      "coordinates": [
        {
          "allele": "TCA",
          "end": 324,
          "referenceAllele": "AAGTTTCGAGCCAAGGGCCGCAAGCCCTGCAAGCT",
          "start": 289
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013356",
      "geneNCBI_id": 57192,
      "geneSymbol": "MCOLN1",
      "hgvs": [
        "NM_020533.3:c.163_197delinsTCA"
      ],
      "proteinEffect": {
        "hgvs": "NP_065394.1:p.Lys55SerfsTer22",
        "hgvsWellDefined": "NP_065394.1:p.[Lys55_Arg57delinsSerAspAla;Lys59Ser;Arg61_Lys62delinsGlnAsp;Cys64_Leu74delinsGlyGlyHisGlyAlaAlaHisPro;Val76_Val78delinsTrpAla;Leu80_Glu95del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS670032",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000264079.11:c.163_197delinsTCA"
          },
          "RefSeq": {
            "hgvs": "NM_020533.3:c.163_197delinsTCA"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000264079.5:p.Lys55SerfsTer22"
          },
          "RefSeq": {
            "hgvs": "NP_065394.1:p.Lys55SerfsTer22"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}