{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA10604324",
  "communityStandardTitle": [
    "NM_000232.5(SGCB):c.1_2del (p.Met1GlyfsTer23)"
  ],
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        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=267097[alleleid]",
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        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/282860",
        "RCV": [
          "RCV000498910",
          "RCV000778734",
          "RCV000812020"
        ],
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      }
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      {
        "@id": "http://myvariant.info/v1/variant/chr4:g.52904424_52904425del?assembly=hg19",
        "id": "chr4:g.52904424_52904425del"
      }
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        "@id": "http://myvariant.info/v1/variant/chr4:g.52038258_52038259del?assembly=hg38",
        "id": "chr4:g.52038258_52038259del"
      }
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        "@id": "http://www.ncbi.nlm.nih.gov/snp/886042503",
        "rs": 886042503
      }
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    "gnomAD_2": [
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        "id": "4-52904423-CAT-C",
        "variant": "4:52904423 CAT / C"
      }
    ],
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      {
        "@id": "http://gnomad.broadinstitute.org/variant/4-52038257-CAT-C?dataset=gnomad_r3",
        "id": "4-52038257-CAT-C",
        "variant": "4:52038257 CAT / C"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/4-52038257-CAT-C?dataset=gnomad_r4",
        "id": "4-52038257-CAT-C",
        "variant": "4:52038257 CAT / C"
      }
    ]
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      "chromosome": "4",
      "coordinates": [
        {
          "allele": "",
          "end": 52038259,
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        }
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        "CM000666.2:g.52038258_52038259del"
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      "referenceSequence": "http://reg.genome.network/refseq/RS000052"
    },
    {
      "chromosome": "4",
      "coordinates": [
        {
          "allele": "",
          "end": 52904425,
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        }
      ],
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      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000028"
    },
    {
      "chromosome": "4",
      "coordinates": [
        {
          "allele": "",
          "end": 52599182,
          "referenceAllele": "AT",
          "start": 52599180
        }
      ],
      "hgvs": [
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      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000004"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 5062,
          "referenceAllele": "AT",
          "start": 5060
        }
      ],
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        "LRG_204:g.5061_5062del"
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      "referenceSequence": "http://reg.genome.network/refseq/RS001284"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "",
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        }
      ],
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      "geneNCBI_id": 6443,
      "geneSymbol": "SGCB",
      "hgvs": [
        "ENST00000381431.10:c.1_2del"
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        "hgvs": "ENSP00000370839.6:p.Met1GlyfsTer23",
        "hgvsWellDefined": "ENSP00000370839.6:p.[Met1_Ala8delinsGlyGlySerGlyGlyGlyGlyCysArgThr;Glu10_Gln11delinsLysPhe;Ser13Trp;Asn15_Val18delinsCys;Lys20_Arg23del;Lys25_Ala26del;Glu28_Arg30delinsHisAla]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS752535",
      "MANE": {
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        "maneStatus": "MANE Select",
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            "hgvs": "ENST00000381431.10:c.1_2del"
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          }
        },
        "protein": {
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            "hgvs": "ENSP00000370839.6:p.Met1GlyfsTer23"
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          "RefSeq": {
            "hgvs": "NP_000223.1:p.Met1GlyfsTer23"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "",
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      "geneSymbol": "SGCB",
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      ],
      "proteinEffect": {
        "hgvs": "ENSP00000370839.5:p.Met1GlyfsTer23",
        "hgvsWellDefined": "ENSP00000370839.5:p.[Met1_Ala8delinsGlyGlySerGlyGlyGlyGlyCysArgThr;Glu10_Gln11delinsLysPhe;Ser13Trp;Asn15_Val18delinsCys;Lys20_Arg23del;Lys25_Ala26del;Glu28_Arg30delinsHisAla]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS273358"
    },
    {
      "coordinates": [
        {
          "allele": "",
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      ],
      "gene": "http://reg.genome.network/gene/GN010806",
      "geneNCBI_id": 6443,
      "geneSymbol": "SGCB",
      "hgvs": [
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        "LRG_204t1:c.1_2del"
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      "proteinEffect": {
        "hgvs": "NP_000223.1:p.Met1GlyfsTer23",
        "hgvsWellDefined": "NP_000223.1:p.[Met1_Ala8delinsGlyGlySerGlyGlyGlyGlyCysArgThr;Glu10_Gln11delinsLysPhe;Ser13Trp;Asn15_Val18delinsCys;Lys20_Arg23del;Lys25_Ala26del;Glu28_Arg30delinsHisAla]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006295"
    },
    {
      "coordinates": [
        {
          "allele": "",
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        }
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      "gene": "http://reg.genome.network/gene/GN010806",
      "geneNCBI_id": 6443,
      "geneSymbol": "SGCB",
      "hgvs": [
        "XM_011534403.1:c.1_2del"
      ],
      "proteinEffect": {
        "hgvs": "XP_011532705.1:p.Met1GlyfsTer27",
        "hgvsWellDefined": "XP_011532705.1:p.[Met1_Ile12delinsGlyGlySerGlyGlyGlyGlyCysArgThrAspAsn;Leu14_Ile20delinsCysTyrLeuGly;Ile22_Met30delinsAspSerHisTrpThrLysTrpLeu]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS101421"
    },
    {
      "coordinates": [
        {
          "allele": "",
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          "referenceAllele": "AT",
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      ],
      "gene": "http://reg.genome.network/gene/GN010806",
      "geneNCBI_id": 6443,
      "geneSymbol": "SGCB",
      "hgvs": [
        "NM_000232.5:c.1_2del"
      ],
      "proteinEffect": {
        "hgvs": "NP_000223.1:p.Met1GlyfsTer23",
        "hgvsWellDefined": "NP_000223.1:p.[Met1_Ala8delinsGlyGlySerGlyGlyGlyGlyCysArgThr;Glu10_Gln11delinsLysPhe;Ser13Trp;Asn15_Val18delinsCys;Lys20_Arg23del;Lys25_Ala26del;Glu28_Arg30delinsHisAla]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS674755",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000381431.10:c.1_2del"
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          "RefSeq": {
            "hgvs": "NM_000232.5:c.1_2del"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000370839.6:p.Met1GlyfsTer23"
          },
          "RefSeq": {
            "hgvs": "NP_000223.1:p.Met1GlyfsTer23"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}