{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA273230",
  "communityStandardTitle": [
    "NM_153700.2(STRC):c.5188C>T (p.Arg1730Ter)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=175960[alleleid]",
        "alleleId": 175960,
        "preferredName": "NM_153700.2(STRC):c.5188C>T (p.Arg1730Ter)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/165298",
        "RCV": [
          "RCV000151937",
          "RCV003155091",
          "RCV003329245"
        ],
        "variationId": 165298
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/15-43892209-G-A",
        "id": "15-43892209-G-A",
        "variant": "15:43892209 G / A"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr15:g.43892209G>A?assembly=hg19",
        "id": "chr15:g.43892209G>A"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr15:g.43600011G>A?assembly=hg38",
        "id": "chr15:g.43600011G>A"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/139956283",
        "rs": 139956283
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/15-43892209-G-A?dataset=gnomad_r2_1",
        "id": "15-43892209-G-A",
        "variant": "15:43892209 G / A"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/15-43600011-G-A?dataset=gnomad_r3",
        "id": "15-43600011-G-A",
        "variant": "15:43600011 G / A"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/15-43600011-G-A?dataset=gnomad_r4",
        "id": "15-43600011-G-A",
        "variant": "15:43600011 G / A"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "15",
      "coordinates": [
        {
          "allele": "A",
          "end": 43600011,
          "referenceAllele": "G",
          "start": 43600010
        }
      ],
      "hgvs": [
        "NC_000015.10:g.43600011G>A",
        "CM000677.2:g.43600011G>A"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000063"
    },
    {
      "chromosome": "15",
      "coordinates": [
        {
          "allele": "A",
          "end": 43892209,
          "referenceAllele": "G",
          "start": 43892208
        }
      ],
      "hgvs": [
        "NC_000015.9:g.43892209G>A",
        "CM000677.1:g.43892209G>A"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000039"
    },
    {
      "chromosome": "15",
      "coordinates": [
        {
          "allele": "A",
          "end": 41679501,
          "referenceAllele": "G",
          "start": 41679500
        }
      ],
      "hgvs": [
        "NC_000015.8:g.41679501G>A"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000015"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 23790,
          "referenceAllele": "C",
          "start": 23789
        }
      ],
      "hgvs": [
        "NG_011636.1:g.23790C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001871"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 5266,
          "referenceAllele": "C",
          "start": 5265
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016035",
      "geneNCBI_id": 161497,
      "geneSymbol": "STRC",
      "hgvs": [
        "ENST00000450892.7:c.5188C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000401513.2:p.Arg1730Ter",
        "hgvsWellDefined": "ENSP00000401513.2:p.Arg1730_Leu1775delinsAlaValAlaTrpAlaGlnHisGluGlyLysGluSerProGluGlnGlnGlyArgSerThrAlaTrpGlyLeuGlnAspTrpSerArgProSerTrpSerLeuValLeuThrIleSerPheLeuGlyHisLeuLeuTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS756310",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000450892.7:c.5188C>T"
          },
          "RefSeq": {
            "hgvs": "NM_153700.2:c.5188C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000401513.2:p.Arg1730Ter"
          },
          "RefSeq": {
            "hgvs": "NP_714544.1:p.Arg1730Ter"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 142,
          "endIntronDirection": "+",
          "endIntronOffset": 478,
          "referenceAllele": "G",
          "start": 142,
          "startIntronDirection": "+",
          "startIntronOffset": 477
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001995",
      "geneNCBI_id": 1159,
      "geneSymbol": "CKMT1B",
      "hgvs": [
        "ENST00000411560.1:n.142+478G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS282209"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 5207,
          "referenceAllele": "C",
          "start": 5206
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016035",
      "geneNCBI_id": 161497,
      "geneSymbol": "STRC",
      "hgvs": [
        "ENST00000428650.5:c.*2221C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000415991.1:n.*2221C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS290298"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 4112,
          "referenceAllele": "C",
          "start": 4111
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016035",
      "geneNCBI_id": 161497,
      "geneSymbol": "STRC",
      "hgvs": [
        "ENST00000440125.5:c.*2980C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000394866.1:n.*2980C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS295742"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2308,
          "referenceAllele": "C",
          "start": 2307
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016035",
      "geneNCBI_id": 161497,
      "geneSymbol": "STRC",
      "hgvs": [
        "ENST00000448437.6:n.2308C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS299729"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 5266,
          "referenceAllele": "C",
          "start": 5265
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016035",
      "geneNCBI_id": 161497,
      "geneSymbol": "STRC",
      "hgvs": [
        "ENST00000450892.6:c.5188C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000401513.2:p.Arg1730Ter",
        "hgvsWellDefined": "ENSP00000401513.2:p.Arg1730_Leu1775delinsAlaValAlaTrpAlaGlnHisGluGlyLysGluSerProGluGlnGlnGlyArgSerThrAlaTrpGlyLeuGlnAspTrpSerArgProSerTrpSerLeuValLeuThrIleSerPheLeuGlyHisLeuLeuTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS300916"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3142,
          "referenceAllele": "C",
          "start": 3141
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016035",
      "geneNCBI_id": 161497,
      "geneSymbol": "STRC",
      "hgvs": [
        "ENST00000471703.5:n.3142C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS313839"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 4043,
          "referenceAllele": "C",
          "start": 4042
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016035",
      "geneNCBI_id": 161497,
      "geneSymbol": "STRC",
      "hgvs": [
        "ENST00000485556.5:n.4043C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS324551"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 5056,
          "referenceAllele": "C",
          "start": 5055
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016035",
      "geneNCBI_id": 161497,
      "geneSymbol": "STRC",
      "hgvs": [
        "ENST00000541030.5:c.2869C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000440413.1:p.Arg957Ter",
        "hgvsWellDefined": "ENSP00000440413.1:p.Arg957_Leu1002delinsAlaValAlaTrpAlaGlnHisGluGlyLysGluSerProGluGlnGlnGlyArgSerThrAlaTrpGlyLeuGlnAspTrpSerArgProSerTrpSerLeuValLeuThrIleSerPheLeuGlyHisLeuLeuTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS362724"
    },
    {
      "@id": "http://reg.genome.network/allele/PA273231",
      "coordinates": [
        {
          "allele": "T",
          "end": 5266,
          "referenceAllele": "C",
          "start": 5265
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016035",
      "geneNCBI_id": 161497,
      "geneSymbol": "STRC",
      "hgvs": [
        "NM_153700.2:c.5188C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_714544.1:p.Arg1730Ter",
        "hgvsWellDefined": "NP_714544.1:p.Arg1730_Leu1775delinsAlaValAlaTrpAlaGlnHisGluGlyLysGluSerProGluGlnGlnGlyArgSerThrAlaTrpGlyLeuGlnAspTrpSerArgProSerTrpSerLeuValLeuThrIleSerPheLeuGlyHisLeuLeuTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS042472",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000450892.7:c.5188C>T"
          },
          "RefSeq": {
            "hgvs": "NM_153700.2:c.5188C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000401513.2:p.Arg1730Ter"
          },
          "RefSeq": {
            "hgvs": "NP_714544.1:p.Arg1730Ter"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 5818,
          "referenceAllele": "C",
          "start": 5817
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016035",
      "geneNCBI_id": 161497,
      "geneSymbol": "STRC",
      "hgvs": [
        "XM_011521277.1:c.5677C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011519579.1:p.Arg1893Ter",
        "hgvsWellDefined": "XP_011519579.1:p.Arg1893_Leu1938delinsAlaValAlaTrpAlaGlnHisGluGlyLysGluSerProGluGlnGlnGlyArgSerThrAlaTrpGlyLeuGlnAspTrpSerArgProSerTrpSerLeuValLeuThrIleSerPheLeuGlyHisLeuLeuTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS088438"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 6122,
          "referenceAllele": "C",
          "start": 6121
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016035",
      "geneNCBI_id": 161497,
      "geneSymbol": "STRC",
      "hgvs": [
        "XM_011521278.1:c.5293C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011519580.1:p.Arg1765Ter",
        "hgvsWellDefined": "XP_011519580.1:p.Arg1765_Leu1810delinsAlaValAlaTrpAlaGlnHisGluGlyLysGluSerProGluGlnGlnGlyArgSerThrAlaTrpGlyLeuGlnAspTrpSerArgProSerTrpSerLeuValLeuThrIleSerPheLeuGlyHisLeuLeuTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS088439"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 5817,
          "referenceAllele": "C",
          "start": 5816
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016035",
      "geneNCBI_id": 161497,
      "geneSymbol": "STRC",
      "hgvs": [
        "XM_011521279.1:c.5293C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011519581.1:p.Arg1765Ter",
        "hgvsWellDefined": "XP_011519581.1:p.Arg1765_Leu1810delinsAlaValAlaTrpAlaGlnHisGluGlyLysGluSerProGluGlnGlnGlyArgSerThrAlaTrpGlyLeuGlnAspTrpSerArgProSerTrpSerLeuValLeuThrIleSerPheLeuGlyHisLeuLeuTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS088440"
    }
  ],
  "type": "nucleotide"
}