{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA2695200103",
  "communityStandardTitle": [
    "NM_005877.6(SF3A1):c.1641del (p.Ser548AlafsTer?)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=2839414[alleleid]",
        "alleleId": 2839414,
        "preferredName": "NM_005877.6(SF3A1):c.1641del (p.Ser548fs)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/2671887",
        "RCV": [
          "RCV003449009"
        ],
        "variationId": 2671887
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/2518170070",
        "rs": 2518170070
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "22",
      "coordinates": [
        {
          "allele": "",
          "end": 30338894,
          "referenceAllele": "G",
          "start": 30338893
        }
      ],
      "hgvs": [
        "NC_000022.11:g.30338894del",
        "CM000684.2:g.30338894del"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000070"
    },
    {
      "chromosome": "22",
      "coordinates": [
        {
          "allele": "",
          "end": 30734883,
          "referenceAllele": "G",
          "start": 30734882
        }
      ],
      "hgvs": [
        "NC_000022.10:g.30734883del",
        "CM000684.1:g.30734883del"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000046"
    },
    {
      "chromosome": "22",
      "coordinates": [
        {
          "allele": "",
          "end": 29064883,
          "referenceAllele": "G",
          "start": 29064882
        }
      ],
      "hgvs": [
        "NC_000022.9:g.29064883del"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000022"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 23034,
          "referenceAllele": "C",
          "start": 23033
        }
      ],
      "hgvs": [
        "NG_032902.1:g.23034del",
        "LRG_622:g.23034del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS005267"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1743,
          "referenceAllele": "C",
          "start": 1742
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010765",
      "geneNCBI_id": 10291,
      "geneSymbol": "SF3A1",
      "hgvs": [
        "ENST00000215793.13:c.1641del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000215793.7:p.Ser548AlafsTer?",
        "hgvsWellDefined": "ENSP00000215793.7:p.[Pro547_Ser548insAla;Ser548_Lys549insProMet;Pro550delinsSerLeu;Glu552_Pro558delinsSerHisArgHisHisLeuGln;Ser561Thr;Ala563_Ile566del;Ser568_Pro571delinsAlaArgLeuHis;Ile573_Pro577delinsSerLeuGlnCys]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS740238",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000215793.13:c.1641del"
          },
          "RefSeq": {
            "hgvs": "NM_005877.6:c.1641del"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000215793.7:p.Ser548AlafsTer?"
          },
          "RefSeq": {
            "hgvs": "NP_005868.1:p.Ser548AlafsTer?"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1796,
          "referenceAllele": "C",
          "start": 1795
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010765",
      "geneNCBI_id": 10291,
      "geneSymbol": "SF3A1",
      "hgvs": [
        "ENST00000215793.12:c.1641del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000215793.7:p.Ser548AlafsTer?",
        "hgvsWellDefined": "ENSP00000215793.7:p.[Pro547_Ser548insAla;Ser548_Lys549insProMet;Pro550delinsSerLeu;Glu552_Pro558delinsSerHisArgHisHisLeuGln;Ser561Thr;Ala563_Ile566del;Ser568_Pro571delinsAlaArgLeuHis;Ile573_Pro577delinsSerLeuGlnCys]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247904"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 349,
          "referenceAllele": "C",
          "start": 348
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010765",
      "geneNCBI_id": 10291,
      "geneSymbol": "SF3A1",
      "hgvs": [
        "ENST00000411423.1:c.*140del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000412715.1:n.*140del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS282147"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 594,
          "referenceAllele": "C",
          "start": 593
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010765",
      "geneNCBI_id": 10291,
      "geneSymbol": "SF3A1",
      "hgvs": [
        "ENST00000444440.1:c.594del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000400862.1:p.Ser199AlafsTer?",
        "hgvsWellDefined": "ENSP00000400862.1:p.[Pro198_Ser199insAla;Ser199_Lys200insProMet;Pro201delinsSerLeu;Glu203_Pro209delinsSerHisArgHisHisLeuGln;Ser212Thr;Ala214_Ile217del;Ser219_Pro222delinsAlaArgLeuHis;Ile224_Pro228delinsSerLeuGlnCys]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS297811"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 542,
          "referenceAllele": "C",
          "start": 541
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010765",
      "geneNCBI_id": 10291,
      "geneSymbol": "SF3A1",
      "hgvs": [
        "ENST00000485618.1:n.542del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS324603"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1796,
          "referenceAllele": "C",
          "start": 1795
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010765",
      "geneNCBI_id": 10291,
      "geneSymbol": "SF3A1",
      "hgvs": [
        "NM_005877.5:c.1641del"
      ],
      "proteinEffect": {
        "hgvs": "NP_005868.1:p.Ser548AlafsTer?",
        "hgvsWellDefined": "NP_005868.1:p.[Pro547_Ser548insAla;Ser548_Lys549insProMet;Pro550delinsSerLeu;Glu552_Pro558delinsSerHisArgHisHisLeuGln;Ser561Thr;Ala563_Ile566del;Ser568_Pro571delinsAlaArgLeuHis;Ile573_Pro577delinsSerLeuGlnCys]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS030936"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1743,
          "referenceAllele": "C",
          "start": 1742
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010765",
      "geneNCBI_id": 10291,
      "geneSymbol": "SF3A1",
      "hgvs": [
        "NM_005877.6:c.1641del"
      ],
      "proteinEffect": {
        "hgvs": "NP_005868.1:p.Ser548AlafsTer?",
        "hgvsWellDefined": "NP_005868.1:p.[Pro547_Ser548insAla;Ser548_Lys549insProMet;Pro550delinsSerLeu;Glu552_Pro558delinsSerHisArgHisHisLeuGln;Ser561Thr;Ala563_Ile566del;Ser568_Pro571delinsAlaArgLeuHis;Ile573_Pro577delinsSerLeuGlnCys]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS667185",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000215793.13:c.1641del"
          },
          "RefSeq": {
            "hgvs": "NM_005877.6:c.1641del"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000215793.7:p.Ser548AlafsTer?"
          },
          "RefSeq": {
            "hgvs": "NP_005868.1:p.Ser548AlafsTer?"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}