{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA353504",
  "communityStandardTitle": [
    "NM_004329.3(BMPR1A):c.286_289dup (p.Ala97ValfsTer9)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=226334[alleleid]",
        "alleleId": 226334,
        "preferredName": "NM_004329.3(BMPR1A):c.286_289dup (p.Ala97fs)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/224552",
        "RCV": [
          "RCV000210116"
        ],
        "variationId": 224552
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr10:g.88651939_88651942dupTTAG?assembly=hg19",
        "id": "chr10:g.88651939_88651942dupTTAG"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr10:g.86892182_86892185dupTTAG?assembly=hg38",
        "id": "chr10:g.86892182_86892185dupTTAG"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/869312783",
        "rs": 869312783
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "10",
      "coordinates": [
        {
          "allele": "TTAG",
          "end": 86892185,
          "referenceAllele": "",
          "start": 86892185
        }
      ],
      "hgvs": [
        "NC_000010.11:g.86892182_86892185dup",
        "CM000672.2:g.86892182_86892185dup"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000058"
    },
    {
      "chromosome": "10",
      "coordinates": [
        {
          "allele": "TTAG",
          "end": 88651942,
          "referenceAllele": "",
          "start": 88651942
        }
      ],
      "hgvs": [
        "NC_000010.10:g.88651939_88651942dup",
        "CM000672.1:g.88651939_88651942dup"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000034"
    },
    {
      "chromosome": "10",
      "coordinates": [
        {
          "allele": "TTAG",
          "end": 88641922,
          "referenceAllele": "",
          "start": 88641922
        }
      ],
      "hgvs": [
        "NC_000010.9:g.88641919_88641922dup"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000010"
    },
    {
      "coordinates": [
        {
          "allele": "TTAG",
          "end": 140547,
          "referenceAllele": "",
          "start": 140547
        }
      ],
      "hgvs": [
        "NG_009362.1:g.140544_140547dup",
        "LRG_298:g.140544_140547dup"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001570"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "TTAG",
          "end": 931,
          "referenceAllele": "",
          "start": 931
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001076",
      "geneNCBI_id": 657,
      "geneSymbol": "BMPR1A",
      "hgvs": [
        "ENST00000480152.3:c.286_289dup"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000483569.2:p.Ala97ValfsTer9",
        "hgvsWellDefined": "ENSP00000483569.2:p.[Ala97Val;Gly99_Lys102delinsPheArgVal;Gly105_Thr121del;Glu123_Arg126del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914134"
    },
    {
      "coordinates": [
        {
          "allele": "TTAG",
          "end": 880,
          "referenceAllele": "",
          "start": 880
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001076",
      "geneNCBI_id": 657,
      "geneSymbol": "BMPR1A",
      "hgvs": [
        "ENST00000635816.2:c.286_289dup"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000489707.1:p.Ala97ValfsTer9",
        "hgvsWellDefined": "ENSP00000489707.1:p.[Ala97Val;Gly99_Lys102delinsPheArgVal;Gly105_Thr121del;Glu123_Arg126del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914387"
    },
    {
      "coordinates": [
        {
          "allele": "TTAG",
          "end": 863,
          "referenceAllele": "",
          "start": 863
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001076",
      "geneNCBI_id": 657,
      "geneSymbol": "BMPR1A",
      "hgvs": [
        "ENST00000636056.2:c.286_289dup"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000490273.1:p.Ala97ValfsTer9",
        "hgvsWellDefined": "ENSP00000490273.1:p.[Ala97Val;Gly99_Lys102delinsPheArgVal;Gly105_Thr121del;Glu123_Arg126del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914389"
    },
    {
      "coordinates": [
        {
          "allele": "TTAG",
          "end": 857,
          "referenceAllele": "",
          "start": 857
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001076",
      "geneNCBI_id": 657,
      "geneSymbol": "BMPR1A",
      "hgvs": [
        "ENST00000372037.8:c.286_289dup"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000361107.2:p.Ala97ValfsTer9",
        "hgvsWellDefined": "ENSP00000361107.2:p.[Ala97Val;Gly99_Lys102delinsPheArgVal;Gly105_Thr121del;Glu123_Arg126del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS750921",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000372037.8:c.286_289dup"
          },
          "RefSeq": {
            "hgvs": "NM_004329.3:c.286_289dup"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000361107.2:p.Ala97ValfsTer9"
          },
          "RefSeq": {
            "hgvs": "NP_004320.2:p.Ala97ValfsTer9"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "TTAG",
          "end": 559,
          "referenceAllele": "",
          "start": 559
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001076",
      "geneNCBI_id": 657,
      "geneSymbol": "BMPR1A",
      "hgvs": [
        "ENST00000635816.1:c.286_289dup"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000489707.1:p.Ala97ValfsTer9",
        "hgvsWellDefined": "ENSP00000489707.1:p.[Ala97Val;Gly99_Lys102delinsPheArgVal;Gly105_Thr121del;Glu123_Arg126del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS762659"
    },
    {
      "coordinates": [
        {
          "allele": "TTAG",
          "end": 559,
          "referenceAllele": "",
          "start": 559
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001076",
      "geneNCBI_id": 657,
      "geneSymbol": "BMPR1A",
      "hgvs": [
        "ENST00000636056.1:c.286_289dup"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000490273.1:p.Ala97ValfsTer9",
        "hgvsWellDefined": "ENSP00000490273.1:p.[Ala97Val;Gly99_Lys102delinsPheArgVal;Gly105_Thr121del;Glu123_Arg126del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS762841"
    },
    {
      "coordinates": [
        {
          "allele": "TTAG",
          "end": 875,
          "referenceAllele": "",
          "start": 875
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001076",
      "geneNCBI_id": 657,
      "geneSymbol": "BMPR1A",
      "hgvs": [
        "ENST00000638429.1:c.286_289dup"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000492290.1:p.Ala97ValfsTer9",
        "hgvsWellDefined": "ENSP00000492290.1:p.[Ala97Val;Gly99_Lys102delinsPheArgVal;Gly105_Thr121del;Glu123_Arg126del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS764525"
    },
    {
      "coordinates": [
        {
          "allele": "TTAG",
          "end": 826,
          "referenceAllele": "",
          "start": 826
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001076",
      "geneNCBI_id": 657,
      "geneSymbol": "BMPR1A",
      "hgvs": [
        "ENST00000372037.7:c.286_289dup"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000361107.1:p.Ala97ValfsTer9",
        "hgvsWellDefined": "ENSP00000361107.1:p.[Ala97Val;Gly99_Lys102delinsPheArgVal;Gly105_Thr121del;Glu123_Arg126del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS268886"
    },
    {
      "coordinates": [
        {
          "allele": "TTAG",
          "end": 837,
          "referenceAllele": "",
          "start": 837
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001076",
      "geneNCBI_id": 657,
      "geneSymbol": "BMPR1A",
      "hgvs": [
        "NM_004329.2:c.286_289dup",
        "LRG_298t1:c.286_289dup"
      ],
      "proteinEffect": {
        "hgvs": "NP_004320.2:p.Ala97ValfsTer9",
        "hgvsWellDefined": "NP_004320.2:p.[Ala97Val;Gly99_Lys102delinsPheArgVal;Gly105_Thr121del;Glu123_Arg126del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS029498"
    },
    {
      "coordinates": [
        {
          "allele": "TTAG",
          "end": 734,
          "referenceAllele": "",
          "start": 734
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001076",
      "geneNCBI_id": 657,
      "geneSymbol": "BMPR1A",
      "hgvs": [
        "XM_011540103.1:c.286_289dup"
      ],
      "proteinEffect": {
        "hgvs": "XP_011538405.1:p.Ala97ValfsTer9",
        "hgvsWellDefined": "XP_011538405.1:p.[Ala97Val;Gly99_Lys102delinsPheArgVal;Gly105_Thr121del;Glu123_Arg126del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS107053"
    },
    {
      "coordinates": [
        {
          "allele": "TTAG",
          "end": 901,
          "referenceAllele": "",
          "start": 901
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001076",
      "geneNCBI_id": 657,
      "geneSymbol": "BMPR1A",
      "hgvs": [
        "XM_011540104.1:c.286_289dup"
      ],
      "proteinEffect": {
        "hgvs": "XP_011538406.1:p.Ala97ValfsTer9",
        "hgvsWellDefined": "XP_011538406.1:p.[Ala97Val;Gly99_Lys102delinsPheArgVal;Gly105_Thr121del;Glu123_Arg126del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS107054"
    },
    {
      "coordinates": [
        {
          "allele": "TTAG",
          "end": 734,
          "referenceAllele": "",
          "start": 734
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001076",
      "geneNCBI_id": 657,
      "geneSymbol": "BMPR1A",
      "hgvs": [
        "XM_011540103.2:c.286_289dup"
      ],
      "proteinEffect": {
        "hgvs": "XP_011538405.1:p.Ala97ValfsTer9",
        "hgvsWellDefined": "XP_011538405.1:p.[Ala97Val;Gly99_Lys102delinsPheArgVal;Gly105_Thr121del;Glu123_Arg126del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS553906"
    },
    {
      "coordinates": [
        {
          "allele": "TTAG",
          "end": 901,
          "referenceAllele": "",
          "start": 901
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001076",
      "geneNCBI_id": 657,
      "geneSymbol": "BMPR1A",
      "hgvs": [
        "XM_011540104.2:c.286_289dup"
      ],
      "proteinEffect": {
        "hgvs": "XP_011538406.1:p.Ala97ValfsTer9",
        "hgvsWellDefined": "XP_011538406.1:p.[Ala97Val;Gly99_Lys102delinsPheArgVal;Gly105_Thr121del;Glu123_Arg126del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS553907"
    },
    {
      "coordinates": [
        {
          "allele": "TTAG",
          "end": 857,
          "referenceAllele": "",
          "start": 857
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001076",
      "geneNCBI_id": 657,
      "geneSymbol": "BMPR1A",
      "hgvs": [
        "NM_004329.3:c.286_289dup"
      ],
      "proteinEffect": {
        "hgvs": "NP_004320.2:p.Ala97ValfsTer9",
        "hgvsWellDefined": "NP_004320.2:p.[Ala97Val;Gly99_Lys102delinsPheArgVal;Gly105_Thr121del;Glu123_Arg126del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS696108",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000372037.8:c.286_289dup"
          },
          "RefSeq": {
            "hgvs": "NM_004329.3:c.286_289dup"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000361107.2:p.Ala97ValfsTer9"
          },
          "RefSeq": {
            "hgvs": "NP_004320.2:p.Ala97ValfsTer9"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}