{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA658657385",
  "communityStandardTitle": [
    "NM_000232.5(SGCB):c.-10_22dup (p.Ala8GlyfsTer22)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=453595[alleleid]",
        "alleleId": 453595,
        "preferredName": "NM_000232.5(SGCB):c.-10_22dup (p.Ala8fs)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/466601",
        "RCV": [
          "RCV000538793",
          "RCV000596558",
          "RCV001778998"
        ],
        "variationId": 466601
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr4:g.52904404_52904435dup?assembly=hg19",
        "id": "chr4:g.52904404_52904435dup"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr4:g.52038238_52038269dup?assembly=hg38",
        "id": "chr4:g.52038238_52038269dup"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/1553940963",
        "rs": 1553940963
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/4-52038237-G-GCCGCCGCCGCCGCTGCCGCCATCTTCCCGCGC?dataset=gnomad_r3",
        "id": "4-52038237-G-GCCGCCGCCGCCGCTGCCGCCATCTTCCCGCGC",
        "variant": "4:52038237 G / GCCGCCGCCGCCGCTGCCGCCATCTTCCCGCGC"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/4-52038237-G-GCCGCCGCCGCCGCTGCCGCCATCTTCCCGCGC?dataset=gnomad_r4",
        "id": "4-52038237-G-GCCGCCGCCGCCGCTGCCGCCATCTTCCCGCGC",
        "variant": "4:52038237 G / GCCGCCGCCGCCGCTGCCGCCATCTTCCCGCGC"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "4",
      "coordinates": [
        {
          "allele": "CTGCCGCCATCTTCCCGCGCCCGCCGCCGCCG",
          "end": 52038281,
          "referenceAllele": "",
          "start": 52038281
        }
      ],
      "hgvs": [
        "NC_000004.12:g.52038250_52038281dup",
        "CM000666.2:g.52038250_52038281dup"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000052"
    },
    {
      "chromosome": "4",
      "coordinates": [
        {
          "allele": "CTGCCGCCATCTTCCCGCGCCCGCCGCCGCCG",
          "end": 52904447,
          "referenceAllele": "",
          "start": 52904447
        }
      ],
      "hgvs": [
        "NC_000004.11:g.52904416_52904447dup",
        "CM000666.1:g.52904416_52904447dup"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000028"
    },
    {
      "chromosome": "4",
      "coordinates": [
        {
          "allele": "CTGCCGCCATCTTCCCGCGCCCGCCGCCGCCG",
          "end": 52599204,
          "referenceAllele": "",
          "start": 52599204
        }
      ],
      "hgvs": [
        "NC_000004.10:g.52599173_52599204dup"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000004"
    },
    {
      "coordinates": [
        {
          "allele": "GGCGGCAGCGGCGGCGGCGGGCGCGGGAAGAT",
          "end": 5082,
          "referenceAllele": "",
          "start": 5082
        }
      ],
      "hgvs": [
        "NG_008891.1:g.5051_5082dup",
        "LRG_204:g.5051_5082dup"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001284"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "GGCGGCAGCGGCGGCGGCGGGCGCGGGAAGAT",
          "end": 62,
          "referenceAllele": "",
          "start": 62
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010806",
      "geneNCBI_id": 6443,
      "geneSymbol": "SGCB",
      "hgvs": [
        "ENST00000381431.10:c.-10_22dup"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000370839.6:p.Ala8GlyfsTer22",
        "hgvsWellDefined": "ENSP00000370839.6:p.[Ala8Gly;Glu10_Glu24delinsGlyArgTrpArgGlnArgArgArgArgLeuGlnAsnSer;Ala26del;Glu28_Ser31delinsProMet;Asn33_Asn37delinsLeu]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS752535",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000381431.10:c.-10_22dup"
          },
          "RefSeq": {
            "hgvs": "NM_000232.5:c.-10_22dup"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000370839.6:p.Ala8GlyfsTer22"
          },
          "RefSeq": {
            "hgvs": "NP_000223.1:p.Ala8GlyfsTer22"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "GGCGGCAGCGGCGGCGGCGGGCGCGGGAAGAT",
          "end": 245,
          "referenceAllele": "",
          "start": 245
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010806",
      "geneNCBI_id": 6443,
      "geneSymbol": "SGCB",
      "hgvs": [
        "ENST00000381431.9:c.-10_22dup"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000370839.5:p.Ala8GlyfsTer22",
        "hgvsWellDefined": "ENSP00000370839.5:p.[Ala8Gly;Glu10_Glu24delinsGlyArgTrpArgGlnArgArgArgArgLeuGlnAsnSer;Ala26del;Glu28_Ser31delinsProMet;Asn33_Asn37delinsLeu]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS273358"
    },
    {
      "coordinates": [
        {
          "allele": "GGCGGCAGCGGCGGCGGCGGGCGCGGGAAGAT",
          "end": 82,
          "referenceAllele": "",
          "start": 82
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010806",
      "geneNCBI_id": 6443,
      "geneSymbol": "SGCB",
      "hgvs": [
        "NM_000232.4:c.-10_22dup",
        "LRG_204t1:c.-10_22dup"
      ],
      "proteinEffect": {
        "hgvs": "NP_000223.1:p.Ala8GlyfsTer22",
        "hgvsWellDefined": "NP_000223.1:p.[Ala8Gly;Glu10_Glu24delinsGlyArgTrpArgGlnArgArgArgArgLeuGlnAsnSer;Ala26del;Glu28_Ser31delinsProMet;Asn33_Asn37delinsLeu]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006295"
    },
    {
      "coordinates": [
        {
          "allele": "GGCGGCAGCGGCGGCGGCGGGCGCGGGAAGAT",
          "end": 61,
          "referenceAllele": "",
          "start": 61
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010806",
      "geneNCBI_id": 6443,
      "geneSymbol": "SGCB",
      "hgvs": [
        "XM_011534403.1:c.-10_22dup"
      ],
      "proteinEffect": {
        "hgvs": "XP_011532705.1:p.Ala8GlyfsTer16",
        "hgvsWellDefined": "XP_011532705.1:p.[Ala8Gly;Glu10_Ile20delinsGlyArgTrpArgGlnArgArgArg;Ile22_Pro24delinsLeuGln;Gly26_Leu37delinsArg]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS101421"
    },
    {
      "coordinates": [
        {
          "allele": "GGCGGCAGCGGCGGCGGCGGGCGCGGGAAGAT",
          "end": 62,
          "referenceAllele": "",
          "start": 62
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010806",
      "geneNCBI_id": 6443,
      "geneSymbol": "SGCB",
      "hgvs": [
        "NM_000232.5:c.-10_22dup"
      ],
      "proteinEffect": {
        "hgvs": "NP_000223.1:p.Ala8GlyfsTer22",
        "hgvsWellDefined": "NP_000223.1:p.[Ala8Gly;Glu10_Glu24delinsGlyArgTrpArgGlnArgArgArgArgLeuGlnAsnSer;Ala26del;Glu28_Ser31delinsProMet;Asn33_Asn37delinsLeu]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS674755",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000381431.10:c.-10_22dup"
          },
          "RefSeq": {
            "hgvs": "NM_000232.5:c.-10_22dup"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000370839.6:p.Ala8GlyfsTer22"
          },
          "RefSeq": {
            "hgvs": "NP_000223.1:p.Ala8GlyfsTer22"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}