{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA2580097326",
  "communityStandardTitle": [
    "NM_000660.7(TGFB1):c.1156_1157del (p.Ser386LeufsTer?)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=1995499[alleleid]",
        "alleleId": 1995499,
        "preferredName": "NM_000660.7(TGFB1):c.1156_1157del (p.Ser386fs)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/1945243",
        "RCV": [
          "RCV002640119"
        ],
        "variationId": 1945243
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/2513371758",
        "rs": 2513371758
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "19",
      "coordinates": [
        {
          "allele": "",
          "end": 41331070,
          "referenceAllele": "AG",
          "start": 41331068
        }
      ],
      "hgvs": [
        "NC_000019.10:g.41331069_41331070del",
        "CM000681.2:g.41331069_41331070del"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000067"
    },
    {
      "chromosome": "19",
      "coordinates": [
        {
          "allele": "",
          "end": 41836975,
          "referenceAllele": "AG",
          "start": 41836973
        }
      ],
      "hgvs": [
        "NC_000019.9:g.41836974_41836975del",
        "CM000681.1:g.41836974_41836975del"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000043"
    },
    {
      "chromosome": "19",
      "coordinates": [
        {
          "allele": "",
          "end": 46528815,
          "referenceAllele": "AG",
          "start": 46528813
        }
      ],
      "hgvs": [
        "NC_000019.8:g.46528814_46528815del"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000019"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 27859,
          "referenceAllele": "CT",
          "start": 27857
        }
      ],
      "hgvs": [
        "NG_013364.1:g.27858_27859del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS002815"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "",
          "end": 2035,
          "referenceAllele": "CT",
          "start": 2033
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011766",
      "geneNCBI_id": 7040,
      "geneSymbol": "TGFB1",
      "hgvs": [
        "ENST00000221930.6:c.1156_1157del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000221930.4:p.Ser386LeufsTer?",
        "hgvsWellDefined": "ENSP00000221930.4:p.[Arg385_Ser386insLeuGlnValGlnLeuArg;Cys387_Lys388delinsArgProAlaProProArgProGlyArgProGlyProThrProProArgProArg;Ser390delinsLeuAlaHisGly]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS740533",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000221930.6:c.1156_1157del"
          },
          "RefSeq": {
            "hgvs": "NM_000660.7:c.1156_1157del"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000221930.4:p.Ser386LeufsTer?"
          },
          "RefSeq": {
            "hgvs": "NP_000651.3:p.Ser386LeufsTer?"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1097,
          "referenceAllele": "CT",
          "start": 1095
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011766",
      "geneNCBI_id": 7040,
      "geneSymbol": "TGFB1",
      "hgvs": [
        "ENST00000600196.2:c.1096_1097del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000504008.1:p.Ser366LeufsTer?",
        "hgvsWellDefined": "ENSP00000504008.1:p.[Arg365_Ser366insLeuGlnValGlnLeuArg;Cys367_Lys368delinsArgProAlaProProArgProGlyArgProGlyProThrProProArgProArg;Ser370delinsLeuAlaHisGly]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS761510"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 931,
          "referenceAllele": "CT",
          "start": 929
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011766",
      "geneNCBI_id": 7040,
      "geneSymbol": "TGFB1",
      "hgvs": [
        "ENST00000677934.1:c.930_931del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000504769.1:n.930_931del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS777586"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 2024,
          "referenceAllele": "CT",
          "start": 2022
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011766",
      "geneNCBI_id": 7040,
      "geneSymbol": "TGFB1",
      "hgvs": [
        "ENST00000221930.5:c.1156_1157del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000221930.4:p.Ser386LeufsTer?",
        "hgvsWellDefined": "ENSP00000221930.4:p.[Arg385_Ser386insLeuGlnValGlnLeuArg;Cys387_Lys388delinsArgProAlaProProArgProGlyArgProGlyProThrProProArgProArg;Ser390delinsLeuAlaHisGly]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS248325"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 302,
          "endIntronDirection": "+",
          "endIntronOffset": 1060,
          "referenceAllele": "CT",
          "start": 302,
          "startIntronDirection": "+",
          "startIntronOffset": 1058
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011766",
      "geneNCBI_id": 7040,
      "geneSymbol": "TGFB1",
      "hgvs": [
        "ENST00000598758.5:c.302+1059_302+1060del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS396538"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 2046,
          "referenceAllele": "CT",
          "start": 2044
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011766",
      "geneNCBI_id": 7040,
      "geneSymbol": "TGFB1",
      "hgvs": [
        "NM_000660.5:c.1156_1157del"
      ],
      "proteinEffect": {
        "hgvs": "NP_000651.3:p.Ser386LeufsTer?",
        "hgvsWellDefined": "NP_000651.3:p.[Arg385_Ser386insLeuGlnValGlnLeuArg;Cys387_Lys388delinsArgProAlaProProArgProGlyArgProGlyProThrProProArgProArg;Ser390delinsLeuAlaHisGly]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006701"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 2042,
          "referenceAllele": "CT",
          "start": 2040
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011766",
      "geneNCBI_id": 7040,
      "geneSymbol": "TGFB1",
      "hgvs": [
        "XM_011527242.1:c.1159_1160del"
      ],
      "proteinEffect": {
        "hgvs": "XP_011525544.1:p.Ser387LeufsTer?",
        "hgvsWellDefined": "XP_011525544.1:p.[Arg386_Ser387insLeuGlnValGlnLeuArg;Cys388_Lys389delinsArgProAlaProProArgProGlyArgProGlyProThrProProArgProArg;Ser391delinsLeuAlaHisGly]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS094336"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1996,
          "referenceAllele": "CT",
          "start": 1994
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011766",
      "geneNCBI_id": 7040,
      "geneSymbol": "TGFB1",
      "hgvs": [
        "NM_000660.6:c.1156_1157del"
      ],
      "proteinEffect": {
        "hgvs": "NP_000651.3:p.Ser386LeufsTer?",
        "hgvsWellDefined": "NP_000651.3:p.[Arg385_Ser386insLeuGlnValGlnLeuArg;Cys387_Lys388delinsArgProAlaProProArgProGlyArgProGlyProThrProProArgProArg;Ser390delinsLeuAlaHisGly]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS510829"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1358,
          "referenceAllele": "CT",
          "start": 1356
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011766",
      "geneNCBI_id": 7040,
      "geneSymbol": "TGFB1",
      "hgvs": [
        "XM_011527242.2:c.1159_1160del"
      ],
      "proteinEffect": {
        "hgvs": "XP_011525544.1:p.Ser387LeufsTer?",
        "hgvsWellDefined": "XP_011525544.1:p.[Arg386_Ser387insLeuGlnValGlnLeuArg;Cys388_Lys389delinsArgProAlaProProArgProGlyArgProGlyProThrProProArgProArg;Ser391delinsLeuAlaHisGly]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS548590"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 2035,
          "referenceAllele": "CT",
          "start": 2033
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011766",
      "geneNCBI_id": 7040,
      "geneSymbol": "TGFB1",
      "hgvs": [
        "NM_000660.7:c.1156_1157del"
      ],
      "proteinEffect": {
        "hgvs": "NP_000651.3:p.Ser386LeufsTer?",
        "hgvsWellDefined": "NP_000651.3:p.[Arg385_Ser386insLeuGlnValGlnLeuArg;Cys387_Lys388delinsArgProAlaProProArgProGlyArgProGlyProThrProProArgProArg;Ser390delinsLeuAlaHisGly]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS674918",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000221930.6:c.1156_1157del"
          },
          "RefSeq": {
            "hgvs": "NM_000660.7:c.1156_1157del"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000221930.4:p.Ser386LeufsTer?"
          },
          "RefSeq": {
            "hgvs": "NP_000651.3:p.Ser386LeufsTer?"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}