{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA2618859886",
  "communityStandardTitle": [
    "NM_000020.3(ACVRL1):c.623_624dup (p.Gly209TrpfsTer?)"
  ],
  "externalRecords": {
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/1060503240",
        "rs": 1060503240
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/12-51914065-A-AGT?dataset=gnomad_r4",
        "id": "12-51914065-A-AGT",
        "variant": "12:51914065 A / AGT"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "12",
      "coordinates": [
        {
          "allele": "TG",
          "end": 51914072,
          "referenceAllele": "",
          "start": 51914072
        }
      ],
      "hgvs": [
        "NC_000012.12:g.51914071_51914072dup",
        "CM000674.2:g.51914071_51914072dup"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000060"
    },
    {
      "chromosome": "12",
      "coordinates": [
        {
          "allele": "TG",
          "end": 52307856,
          "referenceAllele": "",
          "start": 52307856
        }
      ],
      "hgvs": [
        "NC_000012.11:g.52307855_52307856dup",
        "CM000674.1:g.52307855_52307856dup"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000036"
    },
    {
      "chromosome": "12",
      "coordinates": [
        {
          "allele": "TG",
          "end": 50594123,
          "referenceAllele": "",
          "start": 50594123
        }
      ],
      "hgvs": [
        "NC_000012.10:g.50594122_50594123dup"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000012"
    },
    {
      "coordinates": [
        {
          "allele": "TG",
          "end": 11655,
          "referenceAllele": "",
          "start": 11655
        }
      ],
      "hgvs": [
        "NG_009549.1:g.11654_11655dup",
        "LRG_543:g.11654_11655dup"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001604"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "TG",
          "end": 459,
          "endIntronDirection": "-",
          "endIntronOffset": 366,
          "referenceAllele": "",
          "start": 459,
          "startIntronDirection": "-",
          "startIntronOffset": 366
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000175",
      "geneNCBI_id": 94,
      "geneSymbol": "ACVRL1",
      "hgvs": [
        "ENST00000547400.6:c.356-368_356-367dup"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000446724.2:n.356-368_356-367dup"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914257"
    },
    {
      "coordinates": [
        {
          "allele": "TG",
          "end": 914,
          "referenceAllele": "",
          "start": 914
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000175",
      "geneNCBI_id": 94,
      "geneSymbol": "ACVRL1",
      "hgvs": [
        "ENST00000551576.6:c.623_624dup"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000455848.2:p.Gly209TrpfsTer?",
        "hgvsWellDefined": "ENSP00000455848.2:p.[Gly209_Arg218delinsTrpGluLysAlaAlaMetAlaLysCysGly;Leu220_His222delinsAlaCys;Glu224_Ser225delinsThr;Ala227Arg;Lys229_Phe231delinsTrpProSerArg;Ser233_Arg234insPro;Asp235_Gln237delinsGlyMetAsn]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914260"
    },
    {
      "coordinates": [
        {
          "allele": "TG",
          "end": 704,
          "referenceAllele": "",
          "start": 704
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000175",
      "geneNCBI_id": 94,
      "geneSymbol": "ACVRL1",
      "hgvs": [
        "ENST00000552678.2:c.623_624dup"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000457394.2:p.Gly209TrpfsTer?",
        "hgvsWellDefined": "ENSP00000457394.2:p.[Gly209_Arg218delinsTrpGluLysAlaAlaMetAlaLysCysGly;Leu220_His222delinsAlaCys;Glu224_Ser225delinsThr;Ala227Arg;Lys229_Phe231delinsTrpProSerArg;Ser233_Arg234insPro;Asp235_Gln237delinsGlyMetAsn]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914262"
    },
    {
      "coordinates": [
        {
          "allele": "TG",
          "end": 821,
          "referenceAllele": "",
          "start": 821
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000175",
      "geneNCBI_id": 94,
      "geneSymbol": "ACVRL1",
      "hgvs": [
        "ENST00000388922.9:c.623_624dup"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000373574.4:p.Gly209TrpfsTer?",
        "hgvsWellDefined": "ENSP00000373574.4:p.[Gly209_Arg218delinsTrpGluLysAlaAlaMetAlaLysCysGly;Leu220_His222delinsAlaCys;Glu224_Ser225delinsThr;Ala227Arg;Lys229_Phe231delinsTrpProSerArg;Ser233_Arg234insPro;Asp235_Gln237delinsGlyMetAsn]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS752763",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000388922.9:c.623_624dup"
          },
          "RefSeq": {
            "hgvs": "NM_000020.3:c.623_624dup"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000373574.4:p.Gly209TrpfsTer?"
          },
          "RefSeq": {
            "hgvs": "NP_000011.2:p.Gly209TrpfsTer?"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "TG",
          "end": 907,
          "referenceAllele": "",
          "start": 907
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000175",
      "geneNCBI_id": 94,
      "geneSymbol": "ACVRL1",
      "hgvs": [
        "ENST00000388922.8:c.623_624dup"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000373574.4:p.Gly209TrpfsTer?",
        "hgvsWellDefined": "ENSP00000373574.4:p.[Gly209_Arg218delinsTrpGluLysAlaAlaMetAlaLysCysGly;Leu220_His222delinsAlaCys;Glu224_Ser225delinsThr;Ala227Arg;Lys229_Phe231delinsTrpProSerArg;Ser233_Arg234insPro;Asp235_Gln237delinsGlyMetAsn]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS274102"
    },
    {
      "coordinates": [
        {
          "allele": "TG",
          "end": 165,
          "endIntronDirection": "-",
          "endIntronOffset": 366,
          "referenceAllele": "",
          "start": 165,
          "startIntronDirection": "-",
          "startIntronOffset": 366
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000175",
      "geneNCBI_id": 94,
      "geneSymbol": "ACVRL1",
      "hgvs": [
        "ENST00000419526.6:c.104-368_104-367dup"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000392492.2:n.104-368_104-367dup"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS285930"
    },
    {
      "coordinates": [
        {
          "allele": "TG",
          "end": 459,
          "endIntronDirection": "-",
          "endIntronOffset": 366,
          "referenceAllele": "",
          "start": 459,
          "startIntronDirection": "-",
          "startIntronOffset": 366
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000175",
      "geneNCBI_id": 94,
      "geneSymbol": "ACVRL1",
      "hgvs": [
        "ENST00000547400.5:c.356-368_356-367dup"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000446724.1:n.356-368_356-367dup"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS366255"
    },
    {
      "coordinates": [
        {
          "allele": "TG",
          "end": 767,
          "referenceAllele": "",
          "start": 767
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000175",
      "geneNCBI_id": 94,
      "geneSymbol": "ACVRL1",
      "hgvs": [
        "ENST00000550683.5:c.665_666dup"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000447884.1:p.Gly223TrpfsTer?",
        "hgvsWellDefined": "ENSP00000447884.1:p.[Gly223_Arg232delinsTrpGluLysAlaAlaMetAlaLysCysGly;Leu234_His236delinsAlaCys;Glu238_Ser239delinsThr;Ala241Arg;Lys243_Phe245delinsTrpProSerArg;Ser247_Arg248insPro;Asp249_Gln251delinsGlyMetAsn]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS368202"
    },
    {
      "coordinates": [
        {
          "allele": "TG",
          "end": 907,
          "referenceAllele": "",
          "start": 907
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000175",
      "geneNCBI_id": 94,
      "geneSymbol": "ACVRL1",
      "hgvs": [
        "NM_000020.2:c.623_624dup",
        "LRG_543t1:c.623_624dup"
      ],
      "proteinEffect": {
        "hgvs": "NP_000011.2:p.Gly209TrpfsTer?",
        "hgvsWellDefined": "NP_000011.2:p.[Gly209_Arg218delinsTrpGluLysAlaAlaMetAlaLysCysGly;Leu220_His222delinsAlaCys;Glu224_Ser225delinsThr;Ala227Arg;Lys229_Phe231delinsTrpProSerArg;Ser233_Arg234insPro;Asp235_Gln237delinsGlyMetAsn]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006085"
    },
    {
      "coordinates": [
        {
          "allele": "TG",
          "end": 770,
          "referenceAllele": "",
          "start": 770
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000175",
      "geneNCBI_id": 94,
      "geneSymbol": "ACVRL1",
      "hgvs": [
        "NM_001077401.1:c.623_624dup"
      ],
      "proteinEffect": {
        "hgvs": "NP_001070869.1:p.Gly209TrpfsTer?",
        "hgvsWellDefined": "NP_001070869.1:p.[Gly209_Arg218delinsTrpGluLysAlaAlaMetAlaLysCysGly;Leu220_His222delinsAlaCys;Glu224_Ser225delinsThr;Ala227Arg;Lys229_Phe231delinsTrpProSerArg;Ser233_Arg234insPro;Asp235_Gln237delinsGlyMetAsn]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS009968"
    },
    {
      "coordinates": [
        {
          "allele": "TG",
          "end": 909,
          "referenceAllele": "",
          "start": 909
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000175",
      "geneNCBI_id": 94,
      "geneSymbol": "ACVRL1",
      "hgvs": [
        "XM_005269235.2:c.623_624dup"
      ],
      "proteinEffect": {
        "hgvs": "XP_005269292.1:p.Gly209TrpfsTer?",
        "hgvsWellDefined": "XP_005269292.1:p.[Gly209_Arg218delinsTrpGluLysAlaAlaMetAlaLysCysGly;Leu220_His222delinsAlaCys;Glu224_Ser225delinsThr;Ala227Arg;Lys229_Phe231delinsTrpProSerArg;Ser233_Arg234insPro;Asp235_Gln237delinsGlyMetAsn]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS066074"
    },
    {
      "coordinates": [
        {
          "allele": "TG",
          "end": 454,
          "endIntronDirection": "-",
          "endIntronOffset": 366,
          "referenceAllele": "",
          "start": 454,
          "startIntronDirection": "-",
          "startIntronOffset": 366
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000175",
      "geneNCBI_id": 94,
      "geneSymbol": "ACVRL1",
      "hgvs": [
        "XM_011539008.1:c.356-368_356-367dup"
      ],
      "proteinEffect": {
        "hgvs": "XP_011537310.1:n.356-368_356-367dup"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS105961"
    },
    {
      "coordinates": [
        {
          "allele": "TG",
          "end": 284,
          "endIntronDirection": "+",
          "endIntronOffset": 302,
          "referenceAllele": "",
          "start": 284,
          "startIntronDirection": "+",
          "startIntronOffset": 302
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000175",
      "geneNCBI_id": 94,
      "geneSymbol": "ACVRL1",
      "hgvs": [
        "XM_024449279.1:c.-165+301_-165+302dup"
      ],
      "proteinEffect": {
        "hgvs": "XP_024305047.1:n.-165+301_-165+302dup"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS582837"
    },
    {
      "coordinates": [
        {
          "allele": "TG",
          "end": 821,
          "referenceAllele": "",
          "start": 821
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000175",
      "geneNCBI_id": 94,
      "geneSymbol": "ACVRL1",
      "hgvs": [
        "NM_000020.3:c.623_624dup"
      ],
      "proteinEffect": {
        "hgvs": "NP_000011.2:p.Gly209TrpfsTer?",
        "hgvsWellDefined": "NP_000011.2:p.[Gly209_Arg218delinsTrpGluLysAlaAlaMetAlaLysCysGly;Leu220_His222delinsAlaCys;Glu224_Ser225delinsThr;Ala227Arg;Lys229_Phe231delinsTrpProSerArg;Ser233_Arg234insPro;Asp235_Gln237delinsGlyMetAsn]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS674671",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000388922.9:c.623_624dup"
          },
          "RefSeq": {
            "hgvs": "NM_000020.3:c.623_624dup"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000373574.4:p.Gly209TrpfsTer?"
          },
          "RefSeq": {
            "hgvs": "NP_000011.2:p.Gly209TrpfsTer?"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "TG",
          "end": 716,
          "referenceAllele": "",
          "start": 716
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000175",
      "geneNCBI_id": 94,
      "geneSymbol": "ACVRL1",
      "hgvs": [
        "NM_001077401.2:c.623_624dup"
      ],
      "proteinEffect": {
        "hgvs": "NP_001070869.1:p.Gly209TrpfsTer?",
        "hgvsWellDefined": "NP_001070869.1:p.[Gly209_Arg218delinsTrpGluLysAlaAlaMetAlaLysCysGly;Leu220_His222delinsAlaCys;Glu224_Ser225delinsThr;Ala227Arg;Lys229_Phe231delinsTrpProSerArg;Ser233_Arg234insPro;Asp235_Gln237delinsGlyMetAsn]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS676153"
    }
  ],
  "type": "nucleotide"
}