{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA10605745",
  "communityStandardTitle": [
    "NM_000088.4(COL1A1):c.2089C>T (p.Arg697Ter)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=271557[alleleid]",
        "alleleId": 271557,
        "preferredName": "NM_000088.4(COL1A1):c.2089C>T (p.Arg697Ter)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/287320",
        "RCV": [
          "RCV000358677",
          "RCV000490669",
          "RCV000497565",
          "RCV000763409"
        ],
        "variationId": 287320
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr17:g.48269187G>A?assembly=hg19",
        "id": "chr17:g.48269187G>A"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr17:g.50191826G>A?assembly=hg38",
        "id": "chr17:g.50191826G>A"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/72651642",
        "rs": 72651642
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/17-48269187-G-A?dataset=gnomad_r2_1",
        "id": "17-48269187-G-A",
        "variant": "17:48269187 G / A"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/17-50191826-G-A?dataset=gnomad_r3",
        "id": "17-50191826-G-A",
        "variant": "17:50191826 G / A"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/17-50191826-G-A?dataset=gnomad_r4",
        "id": "17-50191826-G-A",
        "variant": "17:50191826 G / A"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "17",
      "coordinates": [
        {
          "allele": "A",
          "end": 50191826,
          "referenceAllele": "G",
          "start": 50191825
        }
      ],
      "hgvs": [
        "NC_000017.11:g.50191826G>A",
        "CM000679.2:g.50191826G>A"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000065"
    },
    {
      "chromosome": "17",
      "coordinates": [
        {
          "allele": "A",
          "end": 48269187,
          "referenceAllele": "G",
          "start": 48269186
        }
      ],
      "hgvs": [
        "NC_000017.10:g.48269187G>A",
        "CM000679.1:g.48269187G>A"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000041"
    },
    {
      "chromosome": "17",
      "coordinates": [
        {
          "allele": "A",
          "end": 45624186,
          "referenceAllele": "G",
          "start": 45624185
        }
      ],
      "hgvs": [
        "NC_000017.9:g.45624186G>A"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000017"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 14814,
          "referenceAllele": "C",
          "start": 14813
        }
      ],
      "hgvs": [
        "NG_007400.1:g.14814C>T",
        "LRG_1:g.14814C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS000567"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2207,
          "referenceAllele": "C",
          "start": 2206
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002197",
      "geneNCBI_id": 1277,
      "geneSymbol": "COL1A1",
      "hgvs": [
        "ENST00000225964.10:c.2089C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000225964.6:p.Arg697Ter",
        "hgvsWellDefined": "ENSP00000225964.6:p.Arg697_Leu1464delinsGlyAlaAsnGlyAlaProGlyAsnAspGlyAlaLysGlyAspAlaGlyAlaProGlyAlaProGlySerGlnGlyAlaProGlyLeuGlnGlyMetProGlyGluArgGlyAlaAlaGlyLeuProGlyProLysGlyAspArgGlyAspAlaGlyProLysGlyAlaAspGlySerProGlyLysAspGlyValArgGlyLeuThrGlyProIleGlyProProGlyProAlaGlyAlaProGlyAspLysGlyGluSerGlyProSerGlyProAlaGlyProThrGlyAlaArgGlyAlaProGlyAspArgGlyGluProGlyProProGlyProAlaGlyPheAlaGlyProProGlyAlaAspGlyGlnProGlyAlaLysGlyGluProGlyAspAlaGlyAlaLysGlyAspAlaGlyProProGlyProAlaGlyProAlaGlyProProGlyProIleGlyAsnValGlyAlaProGlyAlaLysGlyAlaArgGlySerAlaGlyProProGlyAlaThrGlyPheProGlyAlaAlaGlyArgValGlyProProGlyProSerGlyAsnAlaGlyProProGlyProProGlyProAlaGlyLysGluGlyGlyLysGlyProArgGlyGluThrGlyProAlaGlyArgProGlyGluValGlyProProGlyProProGlyProAlaGlyGluLysGlySerProGlyAlaAspGlyProAlaGlyAlaProGlyThrProGlyProGlnGlyIleAlaGlyGlnArgGlyValValGlyLeuProGlyGlnArgGlyGluArgGlyPheProGlyLeuProGlyProSerGlyGluProGlyLysGlnGlyProSerGlyAlaSerGlyGluArgGlyProProGlyProMetGlyProProGlyLeuAlaGlyProProGlyGluSerGlyArgGluGlyAlaProGlyAlaGluGlySerProGlyArgAspGlySerProGlyAlaLysGlyAspArgGlyGluThrGlyProAlaGlyProProGlyAlaProGlyAlaProGlyAlaProGlyProValGlyProAlaGlyLysSerGlyAspArgGlyGluThrGlyProAlaGlyProAlaGlyProValGlyProValGlyAlaArgGlyProAlaGlyProGlnGlyProArgGlyAspLysGlyGluThrGlyGluGlnGlyAspArgGlyIleLysGlyHisArgGlyPheSerGlyLeuGlnGlyProProGlyProProGlySerProGlyGluGlnGlyProSerGlyAlaSerGlyProAlaGlyProArgGlyProProGlySerAlaGlyAlaProGlyLysAspGlyLeuAsnGlyLeuProGlyProIleGlyProProGlyProArgGlyArgThrGlyAspAlaGlyProValGlyProProGlyProProGlyProProGlyProProGlyProProSerAlaGlyPheAspPheSerPheLeuProGlnProProGlnGluLysAlaHisAspGlyGlyArgTyrTyrArgAlaAspAspAlaAsnValValArgAspArgAspLeuGluValAspThrThrLeuLysSerLeuSerGlnGlnIleGluAsnIleArgSerProGluGlySerArgLysAsnProAlaArgThrCysArgAspLeuLysMetCysHisSerAspTrpLysSerGlyGluTyrTrpIleAspProAsnGlnGlyCysAsnLeuAspAlaIleLysValPheCysAsnMetGluThrGlyGluThrCysValTyrProThrGlnProSerValAlaGlnLysAsnTrpTyrIleSerLysAsnProLysAspLysArgHisValTrpPheGlyGluSerMetThrAspGlyPheGlnPheGluTyrGlyGlyGlnGlySerAspProAlaAspValAlaIleGlnLeuThrPheLeuArgLeuMetSerThrGluAlaSerGlnAsnIleThrTyrHisCysLysAsnSerValAlaTyrMetAspGlnGlnThrGlyAsnLeuLysLysAlaLeuLeuLeuGlnGlySerAsnGluIleGluIleArgAlaGluGlyAsnSerArgPheThrTyrSerValThrValAspGlyCysThrSerHisThrGlyAlaTrpGlyLysThrValIleGluTyrLysThrThrLysThrSerArgLeuProIleIleAspValAlaProLeuAspValGlyAlaProAspGlnGluPheGlyPheAspValGlyProValCysPheLeuTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS740684",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000225964.10:c.2089C>T"
          },
          "RefSeq": {
            "hgvs": "NM_000088.4:c.2089C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000225964.6:p.Arg697Ter"
          },
          "RefSeq": {
            "hgvs": "NP_000079.2:p.Arg697Ter"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2208,
          "referenceAllele": "C",
          "start": 2207
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002197",
      "geneNCBI_id": 1277,
      "geneSymbol": "COL1A1",
      "hgvs": [
        "ENST00000225964.9:c.2089C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000225964.5:p.Arg697Ter",
        "hgvsWellDefined": "ENSP00000225964.5:p.Arg697_Leu1464delinsGlyAlaAsnGlyAlaProGlyAsnAspGlyAlaLysGlyAspAlaGlyAlaProGlyAlaProGlySerGlnGlyAlaProGlyLeuGlnGlyMetProGlyGluArgGlyAlaAlaGlyLeuProGlyProLysGlyAspArgGlyAspAlaGlyProLysGlyAlaAspGlySerProGlyLysAspGlyValArgGlyLeuThrGlyProIleGlyProProGlyProAlaGlyAlaProGlyAspLysGlyGluSerGlyProSerGlyProAlaGlyProThrGlyAlaArgGlyAlaProGlyAspArgGlyGluProGlyProProGlyProAlaGlyPheAlaGlyProProGlyAlaAspGlyGlnProGlyAlaLysGlyGluProGlyAspAlaGlyAlaLysGlyAspAlaGlyProProGlyProAlaGlyProAlaGlyProProGlyProIleGlyAsnValGlyAlaProGlyAlaLysGlyAlaArgGlySerAlaGlyProProGlyAlaThrGlyPheProGlyAlaAlaGlyArgValGlyProProGlyProSerGlyAsnAlaGlyProProGlyProProGlyProAlaGlyLysGluGlyGlyLysGlyProArgGlyGluThrGlyProAlaGlyArgProGlyGluValGlyProProGlyProProGlyProAlaGlyGluLysGlySerProGlyAlaAspGlyProAlaGlyAlaProGlyThrProGlyProGlnGlyIleAlaGlyGlnArgGlyValValGlyLeuProGlyGlnArgGlyGluArgGlyPheProGlyLeuProGlyProSerGlyGluProGlyLysGlnGlyProSerGlyAlaSerGlyGluArgGlyProProGlyProMetGlyProProGlyLeuAlaGlyProProGlyGluSerGlyArgGluGlyAlaProGlyAlaGluGlySerProGlyArgAspGlySerProGlyAlaLysGlyAspArgGlyGluThrGlyProAlaGlyProProGlyAlaProGlyAlaProGlyAlaProGlyProValGlyProAlaGlyLysSerGlyAspArgGlyGluThrGlyProAlaGlyProAlaGlyProValGlyProValGlyAlaArgGlyProAlaGlyProGlnGlyProArgGlyAspLysGlyGluThrGlyGluGlnGlyAspArgGlyIleLysGlyHisArgGlyPheSerGlyLeuGlnGlyProProGlyProProGlySerProGlyGluGlnGlyProSerGlyAlaSerGlyProAlaGlyProArgGlyProProGlySerAlaGlyAlaProGlyLysAspGlyLeuAsnGlyLeuProGlyProIleGlyProProGlyProArgGlyArgThrGlyAspAlaGlyProValGlyProProGlyProProGlyProProGlyProProGlyProProSerAlaGlyPheAspPheSerPheLeuProGlnProProGlnGluLysAlaHisAspGlyGlyArgTyrTyrArgAlaAspAspAlaAsnValValArgAspArgAspLeuGluValAspThrThrLeuLysSerLeuSerGlnGlnIleGluAsnIleArgSerProGluGlySerArgLysAsnProAlaArgThrCysArgAspLeuLysMetCysHisSerAspTrpLysSerGlyGluTyrTrpIleAspProAsnGlnGlyCysAsnLeuAspAlaIleLysValPheCysAsnMetGluThrGlyGluThrCysValTyrProThrGlnProSerValAlaGlnLysAsnTrpTyrIleSerLysAsnProLysAspLysArgHisValTrpPheGlyGluSerMetThrAspGlyPheGlnPheGluTyrGlyGlyGlnGlySerAspProAlaAspValAlaIleGlnLeuThrPheLeuArgLeuMetSerThrGluAlaSerGlnAsnIleThrTyrHisCysLysAsnSerValAlaTyrMetAspGlnGlnThrGlyAsnLeuLysLysAlaLeuLeuLeuGlnGlySerAsnGluIleGluIleArgAlaGluGlyAsnSerArgPheThrTyrSerValThrValAspGlyCysThrSerHisThrGlyAlaTrpGlyLysThrValIleGluTyrLysThrThrLysThrSerArgLeuProIleIleAspValAlaProLeuAspValGlyAlaProAspGlnGluPheGlyPheAspValGlyProValCysPheLeuTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS248535"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 438,
          "referenceAllele": "C",
          "start": 437
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002197",
      "geneNCBI_id": 1277,
      "geneSymbol": "COL1A1",
      "hgvs": [
        "ENST00000476387.1:n.438C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS317454"
    },
    {
      "@id": "http://reg.genome.network/allele/PA645452015",
      "coordinates": [
        {
          "allele": "T",
          "end": 2215,
          "referenceAllele": "C",
          "start": 2214
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002197",
      "geneNCBI_id": 1277,
      "geneSymbol": "COL1A1",
      "hgvs": [
        "NM_000088.3:c.2089C>T",
        "LRG_1t1:c.2089C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_000079.2:p.Arg697Ter",
        "hgvsWellDefined": "NP_000079.2:p.Arg697_Leu1464delinsGlyAlaAsnGlyAlaProGlyAsnAspGlyAlaLysGlyAspAlaGlyAlaProGlyAlaProGlySerGlnGlyAlaProGlyLeuGlnGlyMetProGlyGluArgGlyAlaAlaGlyLeuProGlyProLysGlyAspArgGlyAspAlaGlyProLysGlyAlaAspGlySerProGlyLysAspGlyValArgGlyLeuThrGlyProIleGlyProProGlyProAlaGlyAlaProGlyAspLysGlyGluSerGlyProSerGlyProAlaGlyProThrGlyAlaArgGlyAlaProGlyAspArgGlyGluProGlyProProGlyProAlaGlyPheAlaGlyProProGlyAlaAspGlyGlnProGlyAlaLysGlyGluProGlyAspAlaGlyAlaLysGlyAspAlaGlyProProGlyProAlaGlyProAlaGlyProProGlyProIleGlyAsnValGlyAlaProGlyAlaLysGlyAlaArgGlySerAlaGlyProProGlyAlaThrGlyPheProGlyAlaAlaGlyArgValGlyProProGlyProSerGlyAsnAlaGlyProProGlyProProGlyProAlaGlyLysGluGlyGlyLysGlyProArgGlyGluThrGlyProAlaGlyArgProGlyGluValGlyProProGlyProProGlyProAlaGlyGluLysGlySerProGlyAlaAspGlyProAlaGlyAlaProGlyThrProGlyProGlnGlyIleAlaGlyGlnArgGlyValValGlyLeuProGlyGlnArgGlyGluArgGlyPheProGlyLeuProGlyProSerGlyGluProGlyLysGlnGlyProSerGlyAlaSerGlyGluArgGlyProProGlyProMetGlyProProGlyLeuAlaGlyProProGlyGluSerGlyArgGluGlyAlaProGlyAlaGluGlySerProGlyArgAspGlySerProGlyAlaLysGlyAspArgGlyGluThrGlyProAlaGlyProProGlyAlaProGlyAlaProGlyAlaProGlyProValGlyProAlaGlyLysSerGlyAspArgGlyGluThrGlyProAlaGlyProAlaGlyProValGlyProValGlyAlaArgGlyProAlaGlyProGlnGlyProArgGlyAspLysGlyGluThrGlyGluGlnGlyAspArgGlyIleLysGlyHisArgGlyPheSerGlyLeuGlnGlyProProGlyProProGlySerProGlyGluGlnGlyProSerGlyAlaSerGlyProAlaGlyProArgGlyProProGlySerAlaGlyAlaProGlyLysAspGlyLeuAsnGlyLeuProGlyProIleGlyProProGlyProArgGlyArgThrGlyAspAlaGlyProValGlyProProGlyProProGlyProProGlyProProGlyProProSerAlaGlyPheAspPheSerPheLeuProGlnProProGlnGluLysAlaHisAspGlyGlyArgTyrTyrArgAlaAspAspAlaAsnValValArgAspArgAspLeuGluValAspThrThrLeuLysSerLeuSerGlnGlnIleGluAsnIleArgSerProGluGlySerArgLysAsnProAlaArgThrCysArgAspLeuLysMetCysHisSerAspTrpLysSerGlyGluTyrTrpIleAspProAsnGlnGlyCysAsnLeuAspAlaIleLysValPheCysAsnMetGluThrGlyGluThrCysValTyrProThrGlnProSerValAlaGlnLysAsnTrpTyrIleSerLysAsnProLysAspLysArgHisValTrpPheGlyGluSerMetThrAspGlyPheGlnPheGluTyrGlyGlyGlnGlySerAspProAlaAspValAlaIleGlnLeuThrPheLeuArgLeuMetSerThrGluAlaSerGlnAsnIleThrTyrHisCysLysAsnSerValAlaTyrMetAspGlnGlnThrGlyAsnLeuLysLysAlaLeuLeuLeuGlnGlySerAsnGluIleGluIleArgAlaGluGlyAsnSerArgPheThrTyrSerValThrValAspGlyCysThrSerHisThrGlyAlaTrpGlyLysThrValIleGluTyrLysThrThrLysThrSerArgLeuProIleIleAspValAlaProLeuAspValGlyAlaProAspGlnGluPheGlyPheAspValGlyProValCysPheLeuTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006152"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2224,
          "referenceAllele": "C",
          "start": 2223
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002197",
      "geneNCBI_id": 1277,
      "geneSymbol": "COL1A1",
      "hgvs": [
        "XM_005257058.3:c.2089C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005257115.2:p.Arg697Ter",
        "hgvsWellDefined": "XP_005257115.2:p.Arg697_Leu1374delinsGlyAlaAsnGlyAlaProGlyAsnAspGlyAlaLysGlyAspAlaGlyAlaProGlyAlaProGlySerGlnGlyAlaProGlyLeuGlnGlyMetProGlyGluArgGlyAlaAlaGlyLeuProGlyProLysGlyAspArgGlyAspAlaGlyProLysGlyAlaAspGlySerProGlyLysAspGlyValArgGlyLeuThrGlyProIleGlyProProGlyProAlaGlyAlaProGlyAspLysGlyGluSerGlyProSerGlyProAlaGlyProThrGlyAlaArgGlyAlaProGlyAspArgGlyGluProGlyProProGlyProAlaGlyPheAlaGlyProProGlyAlaAspGlyGlnProGlyAlaLysGlyGluProGlyAspAlaGlyAlaLysGlyAspAlaGlyProProGlyProAlaGlyProAlaGlyProProGlyProIleGlyAsnValGlyAlaProGlyAlaLysGlyAlaArgGlySerAlaGlyProProGlyAlaThrGlyPheProGlyAlaAlaGlyArgValGlyProProGlyProSerGlyGluProGlyLysGlnGlyProSerGlyAlaSerGlyGluArgGlyProProGlyProMetGlyProProGlyLeuAlaGlyProProGlyGluSerGlyArgGluGlyAlaProGlyAlaGluGlySerProGlyArgAspGlySerProGlyAlaLysGlyAspArgGlyGluThrGlyProAlaGlyProProGlyAlaProGlyAlaProGlyAlaProGlyProValGlyProAlaGlyLysSerGlyAspArgGlyGluThrGlyProAlaGlyProAlaGlyProValGlyProValGlyAlaArgGlyProAlaGlyProGlnGlyProArgGlyAspLysGlyGluThrGlyGluGlnGlyAspArgGlyIleLysGlyHisArgGlyPheSerGlyLeuGlnGlyProProGlyProProGlySerProGlyGluGlnGlyProSerGlyAlaSerGlyProAlaGlyProArgGlyProProGlySerAlaGlyAlaProGlyLysAspGlyLeuAsnGlyLeuProGlyProIleGlyProProGlyProArgGlyArgThrGlyAspAlaGlyProValGlyProProGlyProProGlyProProGlyProProGlyProProSerAlaGlyPheAspPheSerPheLeuProGlnProProGlnGluLysAlaHisAspGlyGlyArgTyrTyrArgAlaAspAspAlaAsnValValArgAspArgAspLeuGluValAspThrThrLeuLysSerLeuSerGlnGlnIleGluAsnIleArgSerProGluGlySerArgLysAsnProAlaArgThrCysArgAspLeuLysMetCysHisSerAspTrpLysSerGlyGluTyrTrpIleAspProAsnGlnGlyCysAsnLeuAspAlaIleLysValPheCysAsnMetGluThrGlyGluThrCysValTyrProThrGlnProSerValAlaGlnLysAsnTrpTyrIleSerLysAsnProLysAspLysArgHisValTrpPheGlyGluSerMetThrAspGlyPheGlnPheGluTyrGlyGlyGlnGlySerAspProAlaAspValAlaIleGlnLeuThrPheLeuArgLeuMetSerThrGluAlaSerGlnAsnIleThrTyrHisCysLysAsnSerValAlaTyrMetAspGlnGlnThrGlyAsnLeuLysLysAlaLeuLeuLeuGlnGlySerAsnGluIleGluIleArgAlaGluGlyAsnSerArgPheThrTyrSerValThrValAspGlyCysThrSerHisThrGlyAlaTrpGlyLysThrValIleGluTyrLysThrThrLysThrSerArgLeuProIleIleAspValAlaProLeuAspValGlyAlaProAspGlnGluPheGlyPheAspValGlyProValCysPheLeuTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS061555"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1305,
          "referenceAllele": "C",
          "start": 1304
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002197",
      "geneNCBI_id": 1277,
      "geneSymbol": "COL1A1",
      "hgvs": [
        "XM_005257059.3:c.1171C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005257116.2:p.Arg391Ter",
        "hgvsWellDefined": "XP_005257116.2:p.Arg391_Leu1158delinsGlyAlaAsnGlyAlaProGlyAsnAspGlyAlaLysGlyAspAlaGlyAlaProGlyAlaProGlySerGlnGlyAlaProGlyLeuGlnGlyMetProGlyGluArgGlyAlaAlaGlyLeuProGlyProLysGlyAspArgGlyAspAlaGlyProLysGlyAlaAspGlySerProGlyLysAspGlyValArgGlyLeuThrGlyProIleGlyProProGlyProAlaGlyAlaProGlyAspLysGlyGluSerGlyProSerGlyProAlaGlyProThrGlyAlaArgGlyAlaProGlyAspArgGlyGluProGlyProProGlyProAlaGlyPheAlaGlyProProGlyAlaAspGlyGlnProGlyAlaLysGlyGluProGlyAspAlaGlyAlaLysGlyAspAlaGlyProProGlyProAlaGlyProAlaGlyProProGlyProIleGlyAsnValGlyAlaProGlyAlaLysGlyAlaArgGlySerAlaGlyProProGlyAlaThrGlyPheProGlyAlaAlaGlyArgValGlyProProGlyProSerGlyAsnAlaGlyProProGlyProProGlyProAlaGlyLysGluGlyGlyLysGlyProArgGlyGluThrGlyProAlaGlyArgProGlyGluValGlyProProGlyProProGlyProAlaGlyGluLysGlySerProGlyAlaAspGlyProAlaGlyAlaProGlyThrProGlyProGlnGlyIleAlaGlyGlnArgGlyValValGlyLeuProGlyGlnArgGlyGluArgGlyPheProGlyLeuProGlyProSerGlyGluProGlyLysGlnGlyProSerGlyAlaSerGlyGluArgGlyProProGlyProMetGlyProProGlyLeuAlaGlyProProGlyGluSerGlyArgGluGlyAlaProGlyAlaGluGlySerProGlyArgAspGlySerProGlyAlaLysGlyAspArgGlyGluThrGlyProAlaGlyProProGlyAlaProGlyAlaProGlyAlaProGlyProValGlyProAlaGlyLysSerGlyAspArgGlyGluThrGlyProAlaGlyProAlaGlyProValGlyProValGlyAlaArgGlyProAlaGlyProGlnGlyProArgGlyAspLysGlyGluThrGlyGluGlnGlyAspArgGlyIleLysGlyHisArgGlyPheSerGlyLeuGlnGlyProProGlyProProGlySerProGlyGluGlnGlyProSerGlyAlaSerGlyProAlaGlyProArgGlyProProGlySerAlaGlyAlaProGlyLysAspGlyLeuAsnGlyLeuProGlyProIleGlyProProGlyProArgGlyArgThrGlyAspAlaGlyProValGlyProProGlyProProGlyProProGlyProProGlyProProSerAlaGlyPheAspPheSerPheLeuProGlnProProGlnGluLysAlaHisAspGlyGlyArgTyrTyrArgAlaAspAspAlaAsnValValArgAspArgAspLeuGluValAspThrThrLeuLysSerLeuSerGlnGlnIleGluAsnIleArgSerProGluGlySerArgLysAsnProAlaArgThrCysArgAspLeuLysMetCysHisSerAspTrpLysSerGlyGluTyrTrpIleAspProAsnGlnGlyCysAsnLeuAspAlaIleLysValPheCysAsnMetGluThrGlyGluThrCysValTyrProThrGlnProSerValAlaGlnLysAsnTrpTyrIleSerLysAsnProLysAspLysArgHisValTrpPheGlyGluSerMetThrAspGlyPheGlnPheGluTyrGlyGlyGlnGlySerAspProAlaAspValAlaIleGlnLeuThrPheLeuArgLeuMetSerThrGluAlaSerGlnAsnIleThrTyrHisCysLysAsnSerValAlaTyrMetAspGlnGlnThrGlyAsnLeuLysLysAlaLeuLeuLeuGlnGlySerAsnGluIleGluIleArgAlaGluGlyAsnSerArgPheThrTyrSerValThrValAspGlyCysThrSerHisThrGlyAlaTrpGlyLysThrValIleGluTyrLysThrThrLysThrSerArgLeuProIleIleAspValAlaProLeuAspValGlyAlaProAspGlnGluPheGlyPheAspValGlyProValCysPheLeuTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS061556"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2026,
          "referenceAllele": "C",
          "start": 2025
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002197",
      "geneNCBI_id": 1277,
      "geneSymbol": "COL1A1",
      "hgvs": [
        "XM_011524341.1:c.1891C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011522643.1:p.Arg631Ter",
        "hgvsWellDefined": "XP_011522643.1:p.Arg631_Leu1398delinsGlyAlaAsnGlyAlaProGlyAsnAspGlyAlaLysGlyAspAlaGlyAlaProGlyAlaProGlySerGlnGlyAlaProGlyLeuGlnGlyMetProGlyGluArgGlyAlaAlaGlyLeuProGlyProLysGlyAspArgGlyAspAlaGlyProLysGlyAlaAspGlySerProGlyLysAspGlyValArgGlyLeuThrGlyProIleGlyProProGlyProAlaGlyAlaProGlyAspLysGlyGluSerGlyProSerGlyProAlaGlyProThrGlyAlaArgGlyAlaProGlyAspArgGlyGluProGlyProProGlyProAlaGlyPheAlaGlyProProGlyAlaAspGlyGlnProGlyAlaLysGlyGluProGlyAspAlaGlyAlaLysGlyAspAlaGlyProProGlyProAlaGlyProAlaGlyProProGlyProIleGlyAsnValGlyAlaProGlyAlaLysGlyAlaArgGlySerAlaGlyProProGlyAlaThrGlyPheProGlyAlaAlaGlyArgValGlyProProGlyProSerGlyAsnAlaGlyProProGlyProProGlyProAlaGlyLysGluGlyGlyLysGlyProArgGlyGluThrGlyProAlaGlyArgProGlyGluValGlyProProGlyProProGlyProAlaGlyGluLysGlySerProGlyAlaAspGlyProAlaGlyAlaProGlyThrProGlyProGlnGlyIleAlaGlyGlnArgGlyValValGlyLeuProGlyGlnArgGlyGluArgGlyPheProGlyLeuProGlyProSerGlyGluProGlyLysGlnGlyProSerGlyAlaSerGlyGluArgGlyProProGlyProMetGlyProProGlyLeuAlaGlyProProGlyGluSerGlyArgGluGlyAlaProGlyAlaGluGlySerProGlyArgAspGlySerProGlyAlaLysGlyAspArgGlyGluThrGlyProAlaGlyProProGlyAlaProGlyAlaProGlyAlaProGlyProValGlyProAlaGlyLysSerGlyAspArgGlyGluThrGlyProAlaGlyProAlaGlyProValGlyProValGlyAlaArgGlyProAlaGlyProGlnGlyProArgGlyAspLysGlyGluThrGlyGluGlnGlyAspArgGlyIleLysGlyHisArgGlyPheSerGlyLeuGlnGlyProProGlyProProGlySerProGlyGluGlnGlyProSerGlyAlaSerGlyProAlaGlyProArgGlyProProGlySerAlaGlyAlaProGlyLysAspGlyLeuAsnGlyLeuProGlyProIleGlyProProGlyProArgGlyArgThrGlyAspAlaGlyProValGlyProProGlyProProGlyProProGlyProProGlyProProSerAlaGlyPheAspPheSerPheLeuProGlnProProGlnGluLysAlaHisAspGlyGlyArgTyrTyrArgAlaAspAspAlaAsnValValArgAspArgAspLeuGluValAspThrThrLeuLysSerLeuSerGlnGlnIleGluAsnIleArgSerProGluGlySerArgLysAsnProAlaArgThrCysArgAspLeuLysMetCysHisSerAspTrpLysSerGlyGluTyrTrpIleAspProAsnGlnGlyCysAsnLeuAspAlaIleLysValPheCysAsnMetGluThrGlyGluThrCysValTyrProThrGlnProSerValAlaGlnLysAsnTrpTyrIleSerLysAsnProLysAspLysArgHisValTrpPheGlyGluSerMetThrAspGlyPheGlnPheGluTyrGlyGlyGlnGlySerAspProAlaAspValAlaIleGlnLeuThrPheLeuArgLeuMetSerThrGluAlaSerGlnAsnIleThrTyrHisCysLysAsnSerValAlaTyrMetAspGlnGlnThrGlyAsnLeuLysLysAlaLeuLeuLeuGlnGlySerAsnGluIleGluIleArgAlaGluGlyAsnSerArgPheThrTyrSerValThrValAspGlyCysThrSerHisThrGlyAlaTrpGlyLysThrValIleGluTyrLysThrThrLysThrSerArgLeuProIleIleAspValAlaProLeuAspValGlyAlaProAspGlnGluPheGlyPheAspValGlyProValCysPheLeuTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS091468"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2225,
          "referenceAllele": "C",
          "start": 2224
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002197",
      "geneNCBI_id": 1277,
      "geneSymbol": "COL1A1",
      "hgvs": [
        "XM_005257058.4:c.2089C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005257115.2:p.Arg697Ter",
        "hgvsWellDefined": "XP_005257115.2:p.Arg697_Leu1374delinsGlyAlaAsnGlyAlaProGlyAsnAspGlyAlaLysGlyAspAlaGlyAlaProGlyAlaProGlySerGlnGlyAlaProGlyLeuGlnGlyMetProGlyGluArgGlyAlaAlaGlyLeuProGlyProLysGlyAspArgGlyAspAlaGlyProLysGlyAlaAspGlySerProGlyLysAspGlyValArgGlyLeuThrGlyProIleGlyProProGlyProAlaGlyAlaProGlyAspLysGlyGluSerGlyProSerGlyProAlaGlyProThrGlyAlaArgGlyAlaProGlyAspArgGlyGluProGlyProProGlyProAlaGlyPheAlaGlyProProGlyAlaAspGlyGlnProGlyAlaLysGlyGluProGlyAspAlaGlyAlaLysGlyAspAlaGlyProProGlyProAlaGlyProAlaGlyProProGlyProIleGlyAsnValGlyAlaProGlyAlaLysGlyAlaArgGlySerAlaGlyProProGlyAlaThrGlyPheProGlyAlaAlaGlyArgValGlyProProGlyProSerGlyGluProGlyLysGlnGlyProSerGlyAlaSerGlyGluArgGlyProProGlyProMetGlyProProGlyLeuAlaGlyProProGlyGluSerGlyArgGluGlyAlaProGlyAlaGluGlySerProGlyArgAspGlySerProGlyAlaLysGlyAspArgGlyGluThrGlyProAlaGlyProProGlyAlaProGlyAlaProGlyAlaProGlyProValGlyProAlaGlyLysSerGlyAspArgGlyGluThrGlyProAlaGlyProAlaGlyProValGlyProValGlyAlaArgGlyProAlaGlyProGlnGlyProArgGlyAspLysGlyGluThrGlyGluGlnGlyAspArgGlyIleLysGlyHisArgGlyPheSerGlyLeuGlnGlyProProGlyProProGlySerProGlyGluGlnGlyProSerGlyAlaSerGlyProAlaGlyProArgGlyProProGlySerAlaGlyAlaProGlyLysAspGlyLeuAsnGlyLeuProGlyProIleGlyProProGlyProArgGlyArgThrGlyAspAlaGlyProValGlyProProGlyProProGlyProProGlyProProGlyProProSerAlaGlyPheAspPheSerPheLeuProGlnProProGlnGluLysAlaHisAspGlyGlyArgTyrTyrArgAlaAspAspAlaAsnValValArgAspArgAspLeuGluValAspThrThrLeuLysSerLeuSerGlnGlnIleGluAsnIleArgSerProGluGlySerArgLysAsnProAlaArgThrCysArgAspLeuLysMetCysHisSerAspTrpLysSerGlyGluTyrTrpIleAspProAsnGlnGlyCysAsnLeuAspAlaIleLysValPheCysAsnMetGluThrGlyGluThrCysValTyrProThrGlnProSerValAlaGlnLysAsnTrpTyrIleSerLysAsnProLysAspLysArgHisValTrpPheGlyGluSerMetThrAspGlyPheGlnPheGluTyrGlyGlyGlnGlySerAspProAlaAspValAlaIleGlnLeuThrPheLeuArgLeuMetSerThrGluAlaSerGlnAsnIleThrTyrHisCysLysAsnSerValAlaTyrMetAspGlnGlnThrGlyAsnLeuLysLysAlaLeuLeuLeuGlnGlySerAsnGluIleGluIleArgAlaGluGlyAsnSerArgPheThrTyrSerValThrValAspGlyCysThrSerHisThrGlyAlaTrpGlyLysThrValIleGluTyrLysThrThrLysThrSerArgLeuProIleIleAspValAlaProLeuAspValGlyAlaProAspGlnGluPheGlyPheAspValGlyProValCysPheLeuTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS534587"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1306,
          "referenceAllele": "C",
          "start": 1305
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002197",
      "geneNCBI_id": 1277,
      "geneSymbol": "COL1A1",
      "hgvs": [
        "XM_005257059.4:c.1171C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005257116.2:p.Arg391Ter",
        "hgvsWellDefined": "XP_005257116.2:p.Arg391_Leu1158delinsGlyAlaAsnGlyAlaProGlyAsnAspGlyAlaLysGlyAspAlaGlyAlaProGlyAlaProGlySerGlnGlyAlaProGlyLeuGlnGlyMetProGlyGluArgGlyAlaAlaGlyLeuProGlyProLysGlyAspArgGlyAspAlaGlyProLysGlyAlaAspGlySerProGlyLysAspGlyValArgGlyLeuThrGlyProIleGlyProProGlyProAlaGlyAlaProGlyAspLysGlyGluSerGlyProSerGlyProAlaGlyProThrGlyAlaArgGlyAlaProGlyAspArgGlyGluProGlyProProGlyProAlaGlyPheAlaGlyProProGlyAlaAspGlyGlnProGlyAlaLysGlyGluProGlyAspAlaGlyAlaLysGlyAspAlaGlyProProGlyProAlaGlyProAlaGlyProProGlyProIleGlyAsnValGlyAlaProGlyAlaLysGlyAlaArgGlySerAlaGlyProProGlyAlaThrGlyPheProGlyAlaAlaGlyArgValGlyProProGlyProSerGlyAsnAlaGlyProProGlyProProGlyProAlaGlyLysGluGlyGlyLysGlyProArgGlyGluThrGlyProAlaGlyArgProGlyGluValGlyProProGlyProProGlyProAlaGlyGluLysGlySerProGlyAlaAspGlyProAlaGlyAlaProGlyThrProGlyProGlnGlyIleAlaGlyGlnArgGlyValValGlyLeuProGlyGlnArgGlyGluArgGlyPheProGlyLeuProGlyProSerGlyGluProGlyLysGlnGlyProSerGlyAlaSerGlyGluArgGlyProProGlyProMetGlyProProGlyLeuAlaGlyProProGlyGluSerGlyArgGluGlyAlaProGlyAlaGluGlySerProGlyArgAspGlySerProGlyAlaLysGlyAspArgGlyGluThrGlyProAlaGlyProProGlyAlaProGlyAlaProGlyAlaProGlyProValGlyProAlaGlyLysSerGlyAspArgGlyGluThrGlyProAlaGlyProAlaGlyProValGlyProValGlyAlaArgGlyProAlaGlyProGlnGlyProArgGlyAspLysGlyGluThrGlyGluGlnGlyAspArgGlyIleLysGlyHisArgGlyPheSerGlyLeuGlnGlyProProGlyProProGlySerProGlyGluGlnGlyProSerGlyAlaSerGlyProAlaGlyProArgGlyProProGlySerAlaGlyAlaProGlyLysAspGlyLeuAsnGlyLeuProGlyProIleGlyProProGlyProArgGlyArgThrGlyAspAlaGlyProValGlyProProGlyProProGlyProProGlyProProGlyProProSerAlaGlyPheAspPheSerPheLeuProGlnProProGlnGluLysAlaHisAspGlyGlyArgTyrTyrArgAlaAspAspAlaAsnValValArgAspArgAspLeuGluValAspThrThrLeuLysSerLeuSerGlnGlnIleGluAsnIleArgSerProGluGlySerArgLysAsnProAlaArgThrCysArgAspLeuLysMetCysHisSerAspTrpLysSerGlyGluTyrTrpIleAspProAsnGlnGlyCysAsnLeuAspAlaIleLysValPheCysAsnMetGluThrGlyGluThrCysValTyrProThrGlnProSerValAlaGlnLysAsnTrpTyrIleSerLysAsnProLysAspLysArgHisValTrpPheGlyGluSerMetThrAspGlyPheGlnPheGluTyrGlyGlyGlnGlySerAspProAlaAspValAlaIleGlnLeuThrPheLeuArgLeuMetSerThrGluAlaSerGlnAsnIleThrTyrHisCysLysAsnSerValAlaTyrMetAspGlnGlnThrGlyAsnLeuLysLysAlaLeuLeuLeuGlnGlySerAsnGluIleGluIleArgAlaGluGlyAsnSerArgPheThrTyrSerValThrValAspGlyCysThrSerHisThrGlyAlaTrpGlyLysThrValIleGluTyrLysThrThrLysThrSerArgLeuProIleIleAspValAlaProLeuAspValGlyAlaProAspGlnGluPheGlyPheAspValGlyProValCysPheLeuTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS534588"
    },
    {
      "@id": "http://reg.genome.network/allele/PA645452015",
      "coordinates": [
        {
          "allele": "T",
          "end": 2207,
          "referenceAllele": "C",
          "start": 2206
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002197",
      "geneNCBI_id": 1277,
      "geneSymbol": "COL1A1",
      "hgvs": [
        "NM_000088.4:c.2089C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_000079.2:p.Arg697Ter",
        "hgvsWellDefined": "NP_000079.2:p.Arg697_Leu1464delinsGlyAlaAsnGlyAlaProGlyAsnAspGlyAlaLysGlyAspAlaGlyAlaProGlyAlaProGlySerGlnGlyAlaProGlyLeuGlnGlyMetProGlyGluArgGlyAlaAlaGlyLeuProGlyProLysGlyAspArgGlyAspAlaGlyProLysGlyAlaAspGlySerProGlyLysAspGlyValArgGlyLeuThrGlyProIleGlyProProGlyProAlaGlyAlaProGlyAspLysGlyGluSerGlyProSerGlyProAlaGlyProThrGlyAlaArgGlyAlaProGlyAspArgGlyGluProGlyProProGlyProAlaGlyPheAlaGlyProProGlyAlaAspGlyGlnProGlyAlaLysGlyGluProGlyAspAlaGlyAlaLysGlyAspAlaGlyProProGlyProAlaGlyProAlaGlyProProGlyProIleGlyAsnValGlyAlaProGlyAlaLysGlyAlaArgGlySerAlaGlyProProGlyAlaThrGlyPheProGlyAlaAlaGlyArgValGlyProProGlyProSerGlyAsnAlaGlyProProGlyProProGlyProAlaGlyLysGluGlyGlyLysGlyProArgGlyGluThrGlyProAlaGlyArgProGlyGluValGlyProProGlyProProGlyProAlaGlyGluLysGlySerProGlyAlaAspGlyProAlaGlyAlaProGlyThrProGlyProGlnGlyIleAlaGlyGlnArgGlyValValGlyLeuProGlyGlnArgGlyGluArgGlyPheProGlyLeuProGlyProSerGlyGluProGlyLysGlnGlyProSerGlyAlaSerGlyGluArgGlyProProGlyProMetGlyProProGlyLeuAlaGlyProProGlyGluSerGlyArgGluGlyAlaProGlyAlaGluGlySerProGlyArgAspGlySerProGlyAlaLysGlyAspArgGlyGluThrGlyProAlaGlyProProGlyAlaProGlyAlaProGlyAlaProGlyProValGlyProAlaGlyLysSerGlyAspArgGlyGluThrGlyProAlaGlyProAlaGlyProValGlyProValGlyAlaArgGlyProAlaGlyProGlnGlyProArgGlyAspLysGlyGluThrGlyGluGlnGlyAspArgGlyIleLysGlyHisArgGlyPheSerGlyLeuGlnGlyProProGlyProProGlySerProGlyGluGlnGlyProSerGlyAlaSerGlyProAlaGlyProArgGlyProProGlySerAlaGlyAlaProGlyLysAspGlyLeuAsnGlyLeuProGlyProIleGlyProProGlyProArgGlyArgThrGlyAspAlaGlyProValGlyProProGlyProProGlyProProGlyProProGlyProProSerAlaGlyPheAspPheSerPheLeuProGlnProProGlnGluLysAlaHisAspGlyGlyArgTyrTyrArgAlaAspAspAlaAsnValValArgAspArgAspLeuGluValAspThrThrLeuLysSerLeuSerGlnGlnIleGluAsnIleArgSerProGluGlySerArgLysAsnProAlaArgThrCysArgAspLeuLysMetCysHisSerAspTrpLysSerGlyGluTyrTrpIleAspProAsnGlnGlyCysAsnLeuAspAlaIleLysValPheCysAsnMetGluThrGlyGluThrCysValTyrProThrGlnProSerValAlaGlnLysAsnTrpTyrIleSerLysAsnProLysAspLysArgHisValTrpPheGlyGluSerMetThrAspGlyPheGlnPheGluTyrGlyGlyGlnGlySerAspProAlaAspValAlaIleGlnLeuThrPheLeuArgLeuMetSerThrGluAlaSerGlnAsnIleThrTyrHisCysLysAsnSerValAlaTyrMetAspGlnGlnThrGlyAsnLeuLysLysAlaLeuLeuLeuGlnGlySerAsnGluIleGluIleArgAlaGluGlyAsnSerArgPheThrTyrSerValThrValAspGlyCysThrSerHisThrGlyAlaTrpGlyLysThrValIleGluTyrLysThrThrLysThrSerArgLeuProIleIleAspValAlaProLeuAspValGlyAlaProAspGlnGluPheGlyPheAspValGlyProValCysPheLeuTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS674695",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000225964.10:c.2089C>T"
          },
          "RefSeq": {
            "hgvs": "NM_000088.4:c.2089C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000225964.6:p.Arg697Ter"
          },
          "RefSeq": {
            "hgvs": "NP_000079.2:p.Arg697Ter"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}