{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA16619011",
  "communityStandardTitle": [
    "NM_004329.3(BMPR1A):c.1243_1244delinsTTTC (p.Glu415PhefsTer4)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=407946[alleleid]",
        "alleleId": 407946,
        "preferredName": "NM_004329.3(BMPR1A):c.1243_1244delinsTTTC (p.Glu415fs)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/422244",
        "RCV": [
          "RCV000484302"
        ],
        "variationId": 422244
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/1064795654",
        "rs": 1064795654
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "10",
      "coordinates": [
        {
          "allele": "TTTC",
          "end": 86921597,
          "referenceAllele": "GA",
          "start": 86921595
        }
      ],
      "hgvs": [
        "NC_000010.11:g.86921596_86921597delinsTTTC",
        "CM000672.2:g.86921596_86921597delinsTTTC"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000058"
    },
    {
      "chromosome": "10",
      "coordinates": [
        {
          "allele": "TTTC",
          "end": 88681354,
          "referenceAllele": "GA",
          "start": 88681352
        }
      ],
      "hgvs": [
        "NC_000010.10:g.88681353_88681354delinsTTTC",
        "CM000672.1:g.88681353_88681354delinsTTTC"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000034"
    },
    {
      "chromosome": "10",
      "coordinates": [
        {
          "allele": "TTTC",
          "end": 88671334,
          "referenceAllele": "GA",
          "start": 88671332
        }
      ],
      "hgvs": [
        "NC_000010.9:g.88671333_88671334delinsTTTC"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000010"
    },
    {
      "coordinates": [
        {
          "allele": "TTTC",
          "end": 169959,
          "referenceAllele": "GA",
          "start": 169957
        }
      ],
      "hgvs": [
        "NG_009362.1:g.169958_169959delinsTTTC",
        "LRG_298:g.169958_169959delinsTTTC"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001570"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "TTTC",
          "end": 1886,
          "referenceAllele": "GA",
          "start": 1884
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001076",
      "geneNCBI_id": 657,
      "geneSymbol": "BMPR1A",
      "hgvs": [
        "ENST00000480152.3:c.1243_1244delinsTTTC"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000483569.2:p.Glu415PhefsTer4",
        "hgvsWellDefined": "ENSP00000483569.2:p.[Glu415_His421del;Pro424_Met427del;Asp429_Cys444del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914134"
    },
    {
      "coordinates": [
        {
          "allele": "TTTC",
          "end": 1835,
          "referenceAllele": "GA",
          "start": 1833
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001076",
      "geneNCBI_id": 657,
      "geneSymbol": "BMPR1A",
      "hgvs": [
        "ENST00000635816.2:c.1243_1244delinsTTTC"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000489707.1:p.Glu415PhefsTer4",
        "hgvsWellDefined": "ENSP00000489707.1:p.[Glu415_His421del;Pro424_Met427del;Asp429_Cys444del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914387"
    },
    {
      "coordinates": [
        {
          "allele": "TTTC",
          "end": 1818,
          "referenceAllele": "GA",
          "start": 1816
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001076",
      "geneNCBI_id": 657,
      "geneSymbol": "BMPR1A",
      "hgvs": [
        "ENST00000636056.2:c.1243_1244delinsTTTC"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000490273.1:p.Glu415PhefsTer4",
        "hgvsWellDefined": "ENSP00000490273.1:p.[Glu415_His421del;Pro424_Met427del;Asp429_Cys444del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914389"
    },
    {
      "coordinates": [
        {
          "allele": "TTTC",
          "end": 1812,
          "referenceAllele": "GA",
          "start": 1810
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001076",
      "geneNCBI_id": 657,
      "geneSymbol": "BMPR1A",
      "hgvs": [
        "ENST00000372037.8:c.1243_1244delinsTTTC"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000361107.2:p.Glu415PhefsTer4",
        "hgvsWellDefined": "ENSP00000361107.2:p.[Glu415_His421del;Pro424_Met427del;Asp429_Cys444del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS750921",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000372037.8:c.1243_1244delinsTTTC"
          },
          "RefSeq": {
            "hgvs": "NM_004329.3:c.1243_1244delinsTTTC"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000361107.2:p.Glu415PhefsTer4"
          },
          "RefSeq": {
            "hgvs": "NP_004320.2:p.Glu415PhefsTer4"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "TTTC",
          "end": 1514,
          "referenceAllele": "GA",
          "start": 1512
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001076",
      "geneNCBI_id": 657,
      "geneSymbol": "BMPR1A",
      "hgvs": [
        "ENST00000635816.1:c.1243_1244delinsTTTC"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000489707.1:p.Glu415PhefsTer4",
        "hgvsWellDefined": "ENSP00000489707.1:p.[Glu415_His421del;Pro424_Met427del;Asp429_Cys444del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS762659"
    },
    {
      "coordinates": [
        {
          "allele": "TTTC",
          "end": 1514,
          "referenceAllele": "GA",
          "start": 1512
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001076",
      "geneNCBI_id": 657,
      "geneSymbol": "BMPR1A",
      "hgvs": [
        "ENST00000636056.1:c.1243_1244delinsTTTC"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000490273.1:p.Glu415PhefsTer4",
        "hgvsWellDefined": "ENSP00000490273.1:p.[Glu415_His421del;Pro424_Met427del;Asp429_Cys444del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS762841"
    },
    {
      "coordinates": [
        {
          "allele": "TTTC",
          "end": 1830,
          "referenceAllele": "GA",
          "start": 1828
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001076",
      "geneNCBI_id": 657,
      "geneSymbol": "BMPR1A",
      "hgvs": [
        "ENST00000638429.1:c.1243_1244delinsTTTC"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000492290.1:p.Glu415PhefsTer4",
        "hgvsWellDefined": "ENSP00000492290.1:p.[Glu415_His421del;Pro424_Met427del;Asp429_Cys444del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS764525"
    },
    {
      "coordinates": [
        {
          "allele": "TTTC",
          "end": 1781,
          "referenceAllele": "GA",
          "start": 1779
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001076",
      "geneNCBI_id": 657,
      "geneSymbol": "BMPR1A",
      "hgvs": [
        "ENST00000372037.7:c.1243_1244delinsTTTC"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000361107.1:p.Glu415PhefsTer4",
        "hgvsWellDefined": "ENSP00000361107.1:p.[Glu415_His421del;Pro424_Met427del;Asp429_Cys444del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS268886"
    },
    {
      "coordinates": [
        {
          "allele": "TTTC",
          "end": 1792,
          "referenceAllele": "GA",
          "start": 1790
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001076",
      "geneNCBI_id": 657,
      "geneSymbol": "BMPR1A",
      "hgvs": [
        "NM_004329.2:c.1243_1244delinsTTTC",
        "LRG_298t1:c.1243_1244delinsTTTC"
      ],
      "proteinEffect": {
        "hgvs": "NP_004320.2:p.Glu415PhefsTer4",
        "hgvsWellDefined": "NP_004320.2:p.[Glu415_His421del;Pro424_Met427del;Asp429_Cys444del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS029498"
    },
    {
      "coordinates": [
        {
          "allele": "TTTC",
          "end": 1689,
          "referenceAllele": "GA",
          "start": 1687
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001076",
      "geneNCBI_id": 657,
      "geneSymbol": "BMPR1A",
      "hgvs": [
        "XM_011540103.1:c.1243_1244delinsTTTC"
      ],
      "proteinEffect": {
        "hgvs": "XP_011538405.1:p.Glu415PhefsTer4",
        "hgvsWellDefined": "XP_011538405.1:p.[Glu415_His421del;Pro424_Met427del;Asp429_Cys444del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS107053"
    },
    {
      "coordinates": [
        {
          "allele": "TTTC",
          "end": 1856,
          "referenceAllele": "GA",
          "start": 1854
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001076",
      "geneNCBI_id": 657,
      "geneSymbol": "BMPR1A",
      "hgvs": [
        "XM_011540104.1:c.1243_1244delinsTTTC"
      ],
      "proteinEffect": {
        "hgvs": "XP_011538406.1:p.Glu415PhefsTer4",
        "hgvsWellDefined": "XP_011538406.1:p.[Glu415_His421del;Pro424_Met427del;Asp429_Cys444del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS107054"
    },
    {
      "coordinates": [
        {
          "allele": "TTTC",
          "end": 1689,
          "referenceAllele": "GA",
          "start": 1687
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001076",
      "geneNCBI_id": 657,
      "geneSymbol": "BMPR1A",
      "hgvs": [
        "XM_011540103.2:c.1243_1244delinsTTTC"
      ],
      "proteinEffect": {
        "hgvs": "XP_011538405.1:p.Glu415PhefsTer4",
        "hgvsWellDefined": "XP_011538405.1:p.[Glu415_His421del;Pro424_Met427del;Asp429_Cys444del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS553906"
    },
    {
      "coordinates": [
        {
          "allele": "TTTC",
          "end": 1856,
          "referenceAllele": "GA",
          "start": 1854
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001076",
      "geneNCBI_id": 657,
      "geneSymbol": "BMPR1A",
      "hgvs": [
        "XM_011540104.2:c.1243_1244delinsTTTC"
      ],
      "proteinEffect": {
        "hgvs": "XP_011538406.1:p.Glu415PhefsTer4",
        "hgvsWellDefined": "XP_011538406.1:p.[Glu415_His421del;Pro424_Met427del;Asp429_Cys444del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS553907"
    },
    {
      "coordinates": [
        {
          "allele": "TTTC",
          "end": 1812,
          "referenceAllele": "GA",
          "start": 1810
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001076",
      "geneNCBI_id": 657,
      "geneSymbol": "BMPR1A",
      "hgvs": [
        "NM_004329.3:c.1243_1244delinsTTTC"
      ],
      "proteinEffect": {
        "hgvs": "NP_004320.2:p.Glu415PhefsTer4",
        "hgvsWellDefined": "NP_004320.2:p.[Glu415_His421del;Pro424_Met427del;Asp429_Cys444del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS696108",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000372037.8:c.1243_1244delinsTTTC"
          },
          "RefSeq": {
            "hgvs": "NM_004329.3:c.1243_1244delinsTTTC"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000361107.2:p.Glu415PhefsTer4"
          },
          "RefSeq": {
            "hgvs": "NP_004320.2:p.Glu415PhefsTer4"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}