{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA323464",
  "communityStandardTitle": [
    "NM_004612.4(TGFBR1):c.705_707del (p.Ser236del)"
  ],
  "externalRecords": {
    "COSMIC": [
      {
        "@id": "http://cancer.sanger.ac.uk/cosmic/mutation/overview?id=5731502",
        "active": true,
        "id": "COSM5731502"
      }
    ],
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=210172[alleleid]",
        "alleleId": 210172,
        "preferredName": "NM_004612.4(TGFBR1):c.702CTC[1] (p.Ser236del)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/213897",
        "RCV": [
          "RCV001341631"
        ],
        "variationId": 213897
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr9:g.101900271_101900273del?assembly=hg19",
        "id": "chr9:g.101900271_101900273del"
      },
      {
        "@id": "http://myvariant.info/v1/variant/chr9:g.101900268_101900270del?assembly=hg19",
        "id": "chr9:g.101900268_101900270del"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr9:g.99137989_99137991del?assembly=hg38",
        "id": "chr9:g.99137989_99137991del"
      },
      {
        "@id": "http://myvariant.info/v1/variant/chr9:g.99137986_99137988del?assembly=hg38",
        "id": "chr9:g.99137986_99137988del"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/863223830",
        "rs": 863223830
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/9-101900267-TCTC-T?dataset=gnomad_r2_1",
        "id": "9-101900267-TCTC-T",
        "variant": "9:101900267 TCTC / T"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/9-99137985-TCTC-T?dataset=gnomad_r4",
        "id": "9-99137985-TCTC-T",
        "variant": "9:99137985 TCTC / T"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "9",
      "coordinates": [
        {
          "allele": "",
          "end": 99137991,
          "referenceAllele": "CTC",
          "start": 99137988
        }
      ],
      "hgvs": [
        "NC_000009.12:g.99137989_99137991del",
        "CM000671.2:g.99137989_99137991del"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000057"
    },
    {
      "chromosome": "9",
      "coordinates": [
        {
          "allele": "",
          "end": 101900273,
          "referenceAllele": "CTC",
          "start": 101900270
        }
      ],
      "hgvs": [
        "NC_000009.11:g.101900271_101900273del",
        "CM000671.1:g.101900271_101900273del"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000033"
    },
    {
      "chromosome": "9",
      "coordinates": [
        {
          "allele": "",
          "end": 100940094,
          "referenceAllele": "CTC",
          "start": 100940091
        }
      ],
      "hgvs": [
        "NC_000009.10:g.100940092_100940094del"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000009"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 37862,
          "referenceAllele": "CTC",
          "start": 37859
        }
      ],
      "hgvs": [
        "NG_007461.1:g.37860_37862del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS000587"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "",
          "end": 679,
          "referenceAllele": "CTC",
          "start": 676
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011772",
      "geneNCBI_id": 7046,
      "geneSymbol": "TGFBR1",
      "hgvs": [
        "ENST00000547314.6:c.498_500del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000449934.2:p.Ser167del",
        "hgvsWellDefined": "ENSP00000449934.2:p.Ser167del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914256"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 659,
          "referenceAllele": "CTC",
          "start": 656
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011772",
      "geneNCBI_id": 7046,
      "geneSymbol": "TGFBR1",
      "hgvs": [
        "ENST00000552573.7:c.510_512del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000447182.3:p.Ser171del",
        "hgvsWellDefined": "ENSP00000447182.3:p.Ser171del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914261"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 618,
          "endIntronDirection": "-",
          "endIntronOffset": 4544,
          "referenceAllele": "CTC",
          "start": 618,
          "startIntronDirection": "-",
          "startIntronOffset": 4547
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011772",
      "geneNCBI_id": 7046,
      "geneSymbol": "TGFBR1",
      "hgvs": [
        "ENST00000548365.6:c.380-4547_380-4545del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000448518.2:n.380-4547_380-4545del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS905821"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 607,
          "referenceAllele": "CTC",
          "start": 604
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011772",
      "geneNCBI_id": 7046,
      "geneSymbol": "TGFBR1",
      "hgvs": [
        "ENST00000549021.6:c.267_269del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000449028.2:p.Ser90del",
        "hgvsWellDefined": "ENSP00000449028.2:p.Ser90del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS905825"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 711,
          "referenceAllele": "CTC",
          "start": 708
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011772",
      "geneNCBI_id": 7046,
      "geneSymbol": "TGFBR1",
      "hgvs": [
        "ENST00000698941.1:c.510_512del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000514048.1:p.Ser171del",
        "hgvsWellDefined": "ENSP00000514048.1:p.Ser171del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS909886"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 715,
          "referenceAllele": "CTC",
          "start": 712
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011772",
      "geneNCBI_id": 7046,
      "geneSymbol": "TGFBR1",
      "hgvs": [
        "ENST00000698942.1:c.*501_*503del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000514049.1:n.*501_*503del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS909887"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 800,
          "referenceAllele": "CTC",
          "start": 797
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011772",
      "geneNCBI_id": 7046,
      "geneSymbol": "TGFBR1",
      "hgvs": [
        "ENST00000374994.9:c.705_707del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000364133.4:p.Ser236del",
        "hgvsWellDefined": "ENSP00000364133.4:p.Ser236del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS751537",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000374994.9:c.705_707del"
          },
          "RefSeq": {
            "hgvs": "NM_004612.4:c.705_707del"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000364133.4:p.Ser236del"
          },
          "RefSeq": {
            "hgvs": "NP_004603.1:p.Ser236del"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 571,
          "referenceAllele": "CTC",
          "start": 568
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011772",
      "geneNCBI_id": 7046,
      "geneSymbol": "TGFBR1",
      "hgvs": [
        "ENST00000374990.6:c.474_476del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000364129.2:p.Ser159del",
        "hgvsWellDefined": "ENSP00000364129.2:p.Ser159del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247114"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 824,
          "referenceAllele": "CTC",
          "start": 821
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011772",
      "geneNCBI_id": 7046,
      "geneSymbol": "TGFBR1",
      "hgvs": [
        "ENST00000374994.8:c.705_707del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000364133.4:p.Ser236del",
        "hgvsWellDefined": "ENSP00000364133.4:p.Ser236del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247264"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 607,
          "referenceAllele": "CTC",
          "start": 604
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011772",
      "geneNCBI_id": 7046,
      "geneSymbol": "TGFBR1",
      "hgvs": [
        "ENST00000549021.5:c.267_269del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000449028.1:p.Ser90del",
        "hgvsWellDefined": "ENSP00000449028.1:p.Ser90del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247298"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 775,
          "referenceAllele": "CTC",
          "start": 772
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011772",
      "geneNCBI_id": 7046,
      "geneSymbol": "TGFBR1",
      "hgvs": [
        "ENST00000549766.5:c.717_719del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000446685.1:p.Ser240del",
        "hgvsWellDefined": "ENSP00000446685.1:p.Ser240del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS367656"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 697,
          "referenceAllele": "CTC",
          "start": 694
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011772",
      "geneNCBI_id": 7046,
      "geneSymbol": "TGFBR1",
      "hgvs": [
        "ENST00000550253.1:c.498_500del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000450052.1:p.Ser167del",
        "hgvsWellDefined": "ENSP00000450052.1:p.Ser167del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247311"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 775,
          "referenceAllele": "CTC",
          "start": 772
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011772",
      "geneNCBI_id": 7046,
      "geneSymbol": "TGFBR1",
      "hgvs": [
        "ENST00000552516.5:c.717_719del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000447297.1:p.Ser240del",
        "hgvsWellDefined": "ENSP00000447297.1:p.Ser240del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247220"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825744509",
      "coordinates": [
        {
          "allele": "",
          "end": 552,
          "referenceAllele": "CTC",
          "start": 549
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011772",
      "geneNCBI_id": 7046,
      "geneSymbol": "TGFBR1",
      "hgvs": [
        "NM_001130916.1:c.474_476del"
      ],
      "proteinEffect": {
        "hgvs": "NP_001124388.1:p.Ser159del",
        "hgvsWellDefined": "NP_001124388.1:p.Ser159del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS012116"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825744509",
      "coordinates": [
        {
          "allele": "",
          "end": 593,
          "referenceAllele": "CTC",
          "start": 590
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011772",
      "geneNCBI_id": 7046,
      "geneSymbol": "TGFBR1",
      "hgvs": [
        "NM_001130916.2:c.474_476del"
      ],
      "proteinEffect": {
        "hgvs": "NP_001124388.1:p.Ser159del",
        "hgvsWellDefined": "NP_001124388.1:p.Ser159del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS012117"
    },
    {
      "@id": "http://reg.genome.network/allele/PA1139694249",
      "coordinates": [
        {
          "allele": "",
          "end": 836,
          "referenceAllele": "CTC",
          "start": 833
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011772",
      "geneNCBI_id": 7046,
      "geneSymbol": "TGFBR1",
      "hgvs": [
        "NM_001306210.1:c.717_719del"
      ],
      "proteinEffect": {
        "hgvs": "NP_001293139.1:p.Ser240del",
        "hgvsWellDefined": "NP_001293139.1:p.Ser240del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS026033"
    },
    {
      "@id": "http://reg.genome.network/allele/PA323465",
      "coordinates": [
        {
          "allele": "",
          "end": 783,
          "referenceAllele": "CTC",
          "start": 780
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011772",
      "geneNCBI_id": 7046,
      "geneSymbol": "TGFBR1",
      "hgvs": [
        "NM_004612.2:c.705_707del"
      ],
      "proteinEffect": {
        "hgvs": "NP_004603.1:p.Ser236del",
        "hgvsWellDefined": "NP_004603.1:p.Ser236del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS029766"
    },
    {
      "@id": "http://reg.genome.network/allele/PA323465",
      "coordinates": [
        {
          "allele": "",
          "end": 824,
          "referenceAllele": "CTC",
          "start": 821
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011772",
      "geneNCBI_id": 7046,
      "geneSymbol": "TGFBR1",
      "hgvs": [
        "NM_004612.3:c.705_707del"
      ],
      "proteinEffect": {
        "hgvs": "NP_004603.1:p.Ser236del",
        "hgvsWellDefined": "NP_004603.1:p.Ser236del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS029767"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 751,
          "referenceAllele": "CTC",
          "start": 748
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011772",
      "geneNCBI_id": 7046,
      "geneSymbol": "TGFBR1",
      "hgvs": [
        "XM_011518948.1:c.510_512del"
      ],
      "proteinEffect": {
        "hgvs": "XP_011517250.1:p.Ser171del",
        "hgvsWellDefined": "XP_011517250.1:p.Ser171del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS086122"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 679,
          "referenceAllele": "CTC",
          "start": 676
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011772",
      "geneNCBI_id": 7046,
      "geneSymbol": "TGFBR1",
      "hgvs": [
        "XM_011518949.1:c.498_500del"
      ],
      "proteinEffect": {
        "hgvs": "XP_011517251.1:p.Ser167del",
        "hgvsWellDefined": "XP_011517251.1:p.Ser167del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS086123"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 602,
          "referenceAllele": "CTC",
          "start": 599
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011772",
      "geneNCBI_id": 7046,
      "geneSymbol": "TGFBR1",
      "hgvs": [
        "XM_011518950.1:c.267_269del"
      ],
      "proteinEffect": {
        "hgvs": "XP_011517252.1:p.Ser90del",
        "hgvsWellDefined": "XP_011517252.1:p.Ser90del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS086124"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 751,
          "referenceAllele": "CTC",
          "start": 748
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011772",
      "geneNCBI_id": 7046,
      "geneSymbol": "TGFBR1",
      "hgvs": [
        "XM_011518948.2:c.510_512del"
      ],
      "proteinEffect": {
        "hgvs": "XP_011517250.1:p.Ser171del",
        "hgvsWellDefined": "XP_011517250.1:p.Ser171del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS545149"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 679,
          "referenceAllele": "CTC",
          "start": 676
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011772",
      "geneNCBI_id": 7046,
      "geneSymbol": "TGFBR1",
      "hgvs": [
        "XM_011518949.2:c.498_500del"
      ],
      "proteinEffect": {
        "hgvs": "XP_011517251.1:p.Ser167del",
        "hgvsWellDefined": "XP_011517251.1:p.Ser167del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS545150"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 3781,
          "referenceAllele": "CTC",
          "start": 3778
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011772",
      "geneNCBI_id": 7046,
      "geneSymbol": "TGFBR1",
      "hgvs": [
        "XM_011518950.2:c.267_269del"
      ],
      "proteinEffect": {
        "hgvs": "XP_011517252.1:p.Ser90del",
        "hgvsWellDefined": "XP_011517252.1:p.Ser90del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS545151"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 714,
          "referenceAllele": "CTC",
          "start": 711
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011772",
      "geneNCBI_id": 7046,
      "geneSymbol": "TGFBR1",
      "hgvs": [
        "XM_017015063.1:c.510_512del"
      ],
      "proteinEffect": {
        "hgvs": "XP_016870552.1:p.Ser171del",
        "hgvsWellDefined": "XP_016870552.1:p.Ser171del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS567899"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 4006,
          "referenceAllele": "CTC",
          "start": 4003
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011772",
      "geneNCBI_id": 7046,
      "geneSymbol": "TGFBR1",
      "hgvs": [
        "XM_024447658.1:c.498_500del"
      ],
      "proteinEffect": {
        "hgvs": "XP_024303426.1:p.Ser167del",
        "hgvsWellDefined": "XP_024303426.1:p.Ser167del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS581239"
    },
    {
      "@id": "http://reg.genome.network/allele/PA323465",
      "coordinates": [
        {
          "allele": "",
          "end": 800,
          "referenceAllele": "CTC",
          "start": 797
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011772",
      "geneNCBI_id": 7046,
      "geneSymbol": "TGFBR1",
      "hgvs": [
        "NM_004612.4:c.705_707del"
      ],
      "proteinEffect": {
        "hgvs": "NP_004603.1:p.Ser236del",
        "hgvsWellDefined": "NP_004603.1:p.Ser236del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS666569",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000374994.9:c.705_707del"
          },
          "RefSeq": {
            "hgvs": "NM_004612.4:c.705_707del"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000364133.4:p.Ser236del"
          },
          "RefSeq": {
            "hgvs": "NP_004603.1:p.Ser236del"
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825744509",
      "coordinates": [
        {
          "allele": "",
          "end": 569,
          "referenceAllele": "CTC",
          "start": 566
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011772",
      "geneNCBI_id": 7046,
      "geneSymbol": "TGFBR1",
      "hgvs": [
        "NM_001130916.3:c.474_476del"
      ],
      "proteinEffect": {
        "hgvs": "NP_001124388.1:p.Ser159del",
        "hgvsWellDefined": "NP_001124388.1:p.Ser159del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS677158"
    },
    {
      "@id": "http://reg.genome.network/allele/PA1139694249",
      "coordinates": [
        {
          "allele": "",
          "end": 812,
          "referenceAllele": "CTC",
          "start": 809
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011772",
      "geneNCBI_id": 7046,
      "geneSymbol": "TGFBR1",
      "hgvs": [
        "NM_001306210.2:c.717_719del"
      ],
      "proteinEffect": {
        "hgvs": "NP_001293139.1:p.Ser240del",
        "hgvsWellDefined": "NP_001293139.1:p.Ser240del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS683870"
    }
  ],
  "type": "nucleotide"
}