{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA291546319",
  "communityStandardTitle": [
    "NM_000088.4(COL1A1):c.1393G>T (p.Glu465Ter)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=468441[alleleid]",
        "alleleId": 468441,
        "preferredName": "NM_000088.4(COL1A1):c.1393G>T (p.Glu465Ter)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/456733",
        "RCV": [
          "RCV000529907"
        ],
        "variationId": 456733
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr17:g.48272150C>A?assembly=hg19",
        "id": "chr17:g.48272150C>A"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr17:g.50194789C>A?assembly=hg38",
        "id": "chr17:g.50194789C>A"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/865999256",
        "rs": 865999256
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/17-48272150-C-A?dataset=gnomad_r2_1",
        "id": "17-48272150-C-A",
        "variant": "17:48272150 C / A"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/17-50194789-C-A?dataset=gnomad_r4",
        "id": "17-50194789-C-A",
        "variant": "17:50194789 C / A"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "17",
      "coordinates": [
        {
          "allele": "A",
          "end": 50194789,
          "referenceAllele": "C",
          "start": 50194788
        }
      ],
      "hgvs": [
        "NC_000017.11:g.50194789C>A",
        "CM000679.2:g.50194789C>A"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000065"
    },
    {
      "chromosome": "17",
      "coordinates": [
        {
          "allele": "A",
          "end": 48272150,
          "referenceAllele": "C",
          "start": 48272149
        }
      ],
      "hgvs": [
        "NC_000017.10:g.48272150C>A",
        "CM000679.1:g.48272150C>A"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000041"
    },
    {
      "chromosome": "17",
      "coordinates": [
        {
          "allele": "A",
          "end": 45627149,
          "referenceAllele": "C",
          "start": 45627148
        }
      ],
      "hgvs": [
        "NC_000017.9:g.45627149C>A"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000017"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 11851,
          "referenceAllele": "G",
          "start": 11850
        }
      ],
      "hgvs": [
        "NG_007400.1:g.11851G>T",
        "LRG_1:g.11851G>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS000567"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1511,
          "referenceAllele": "G",
          "start": 1510
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002197",
      "geneNCBI_id": 1277,
      "geneSymbol": "COL1A1",
      "hgvs": [
        "ENST00000225964.10:c.1393G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000225964.6:p.Glu465Ter",
        "hgvsWellDefined": "ENSP00000225964.6:p.Glu466_Leu1464delinsGlyLysArgGlyAlaArgGlyGluProGlyProThrGlyLeuProGlyProProGlyGluArgGlyGlyProGlySerArgGlyPheProGlyAlaAspGlyValAlaGlyProLysGlyProAlaGlyGluArgGlySerProGlyProAlaGlyProLysGlySerProGlyGluAlaGlyArgProGlyGluAlaGlyLeuProGlyAlaLysGlyLeuThrGlySerProGlySerProGlyProAspGlyLysThrGlyProProGlyProAlaGlyGlnAspGlyArgProGlyProProGlyProProGlyAlaArgGlyGlnAlaGlyValMetGlyPheProGlyProLysGlyAlaAlaGlyGluProGlyLysAlaGlyGluArgGlyValProGlyProProGlyAlaValGlyProAlaGlyLysAspGlyGluAlaGlyAlaGlnGlyProProGlyProAlaGlyProAlaGlyGluArgGlyGluGlnGlyProAlaGlySerProGlyPheGlnGlyLeuProGlyProAlaGlyProProGlyGluAlaGlyLysProGlyGluGlnGlyValProGlyAspLeuGlyAlaProGlyProSerGlyAlaArgGlyGluArgGlyPheProGlyGluArgGlyValGlnGlyProProGlyProAlaGlyProArgGlyAlaAsnGlyAlaProGlyAsnAspGlyAlaLysGlyAspAlaGlyAlaProGlyAlaProGlySerGlnGlyAlaProGlyLeuGlnGlyMetProGlyGluArgGlyAlaAlaGlyLeuProGlyProLysGlyAspArgGlyAspAlaGlyProLysGlyAlaAspGlySerProGlyLysAspGlyValArgGlyLeuThrGlyProIleGlyProProGlyProAlaGlyAlaProGlyAspLysGlyGluSerGlyProSerGlyProAlaGlyProThrGlyAlaArgGlyAlaProGlyAspArgGlyGluProGlyProProGlyProAlaGlyPheAlaGlyProProGlyAlaAspGlyGlnProGlyAlaLysGlyGluProGlyAspAlaGlyAlaLysGlyAspAlaGlyProProGlyProAlaGlyProAlaGlyProProGlyProIleGlyAsnValGlyAlaProGlyAlaLysGlyAlaArgGlySerAlaGlyProProGlyAlaThrGlyPheProGlyAlaAlaGlyArgValGlyProProGlyProSerGlyAsnAlaGlyProProGlyProProGlyProAlaGlyLysGluGlyGlyLysGlyProArgGlyGluThrGlyProAlaGlyArgProGlyGluValGlyProProGlyProProGlyProAlaGlyGluLysGlySerProGlyAlaAspGlyProAlaGlyAlaProGlyThrProGlyProGlnGlyIleAlaGlyGlnArgGlyValValGlyLeuProGlyGlnArgGlyGluArgGlyPheProGlyLeuProGlyProSerGlyGluProGlyLysGlnGlyProSerGlyAlaSerGlyGluArgGlyProProGlyProMetGlyProProGlyLeuAlaGlyProProGlyGluSerGlyArgGluGlyAlaProGlyAlaGluGlySerProGlyArgAspGlySerProGlyAlaLysGlyAspArgGlyGluThrGlyProAlaGlyProProGlyAlaProGlyAlaProGlyAlaProGlyProValGlyProAlaGlyLysSerGlyAspArgGlyGluThrGlyProAlaGlyProAlaGlyProValGlyProValGlyAlaArgGlyProAlaGlyProGlnGlyProArgGlyAspLysGlyGluThrGlyGluGlnGlyAspArgGlyIleLysGlyHisArgGlyPheSerGlyLeuGlnGlyProProGlyProProGlySerProGlyGluGlnGlyProSerGlyAlaSerGlyProAlaGlyProArgGlyProProGlySerAlaGlyAlaProGlyLysAspGlyLeuAsnGlyLeuProGlyProIleGlyProProGlyProArgGlyArgThrGlyAspAlaGlyProValGlyProProGlyProProGlyProProGlyProProGlyProProSerAlaGlyPheAspPheSerPheLeuProGlnProProGlnGluLysAlaHisAspGlyGlyArgTyrTyrArgAlaAspAspAlaAsnValValArgAspArgAspLeuGluValAspThrThrLeuLysSerLeuSerGlnGlnIleGluAsnIleArgSerProGluGlySerArgLysAsnProAlaArgThrCysArgAspLeuLysMetCysHisSerAspTrpLysSerGlyGluTyrTrpIleAspProAsnGlnGlyCysAsnLeuAspAlaIleLysValPheCysAsnMetGluThrGlyGluThrCysValTyrProThrGlnProSerValAlaGlnLysAsnTrpTyrIleSerLysAsnProLysAspLysArgHisValTrpPheGlyGluSerMetThrAspGlyPheGlnPheGluTyrGlyGlyGlnGlySerAspProAlaAspValAlaIleGlnLeuThrPheLeuArgLeuMetSerThrGluAlaSerGlnAsnIleThrTyrHisCysLysAsnSerValAlaTyrMetAspGlnGlnThrGlyAsnLeuLysLysAlaLeuLeuLeuGlnGlySerAsnGluIleGluIleArgAlaGluGlyAsnSerArgPheThrTyrSerValThrValAspGlyCysThrSerHisThrGlyAlaTrpGlyLysThrValIleGluTyrLysThrThrLysThrSerArgLeuProIleIleAspValAlaProLeuAspValGlyAlaProAspGlnGluPheGlyPheAspValGlyProValCysPheLeuTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS740684",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000225964.10:c.1393G>T"
          },
          "RefSeq": {
            "hgvs": "NM_000088.4:c.1393G>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000225964.6:p.Glu465Ter"
          },
          "RefSeq": {
            "hgvs": "NP_000079.2:p.Glu465Ter"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1512,
          "referenceAllele": "G",
          "start": 1511
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002197",
      "geneNCBI_id": 1277,
      "geneSymbol": "COL1A1",
      "hgvs": [
        "ENST00000225964.9:c.1393G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000225964.5:p.Glu465Ter",
        "hgvsWellDefined": "ENSP00000225964.5:p.Glu466_Leu1464delinsGlyLysArgGlyAlaArgGlyGluProGlyProThrGlyLeuProGlyProProGlyGluArgGlyGlyProGlySerArgGlyPheProGlyAlaAspGlyValAlaGlyProLysGlyProAlaGlyGluArgGlySerProGlyProAlaGlyProLysGlySerProGlyGluAlaGlyArgProGlyGluAlaGlyLeuProGlyAlaLysGlyLeuThrGlySerProGlySerProGlyProAspGlyLysThrGlyProProGlyProAlaGlyGlnAspGlyArgProGlyProProGlyProProGlyAlaArgGlyGlnAlaGlyValMetGlyPheProGlyProLysGlyAlaAlaGlyGluProGlyLysAlaGlyGluArgGlyValProGlyProProGlyAlaValGlyProAlaGlyLysAspGlyGluAlaGlyAlaGlnGlyProProGlyProAlaGlyProAlaGlyGluArgGlyGluGlnGlyProAlaGlySerProGlyPheGlnGlyLeuProGlyProAlaGlyProProGlyGluAlaGlyLysProGlyGluGlnGlyValProGlyAspLeuGlyAlaProGlyProSerGlyAlaArgGlyGluArgGlyPheProGlyGluArgGlyValGlnGlyProProGlyProAlaGlyProArgGlyAlaAsnGlyAlaProGlyAsnAspGlyAlaLysGlyAspAlaGlyAlaProGlyAlaProGlySerGlnGlyAlaProGlyLeuGlnGlyMetProGlyGluArgGlyAlaAlaGlyLeuProGlyProLysGlyAspArgGlyAspAlaGlyProLysGlyAlaAspGlySerProGlyLysAspGlyValArgGlyLeuThrGlyProIleGlyProProGlyProAlaGlyAlaProGlyAspLysGlyGluSerGlyProSerGlyProAlaGlyProThrGlyAlaArgGlyAlaProGlyAspArgGlyGluProGlyProProGlyProAlaGlyPheAlaGlyProProGlyAlaAspGlyGlnProGlyAlaLysGlyGluProGlyAspAlaGlyAlaLysGlyAspAlaGlyProProGlyProAlaGlyProAlaGlyProProGlyProIleGlyAsnValGlyAlaProGlyAlaLysGlyAlaArgGlySerAlaGlyProProGlyAlaThrGlyPheProGlyAlaAlaGlyArgValGlyProProGlyProSerGlyAsnAlaGlyProProGlyProProGlyProAlaGlyLysGluGlyGlyLysGlyProArgGlyGluThrGlyProAlaGlyArgProGlyGluValGlyProProGlyProProGlyProAlaGlyGluLysGlySerProGlyAlaAspGlyProAlaGlyAlaProGlyThrProGlyProGlnGlyIleAlaGlyGlnArgGlyValValGlyLeuProGlyGlnArgGlyGluArgGlyPheProGlyLeuProGlyProSerGlyGluProGlyLysGlnGlyProSerGlyAlaSerGlyGluArgGlyProProGlyProMetGlyProProGlyLeuAlaGlyProProGlyGluSerGlyArgGluGlyAlaProGlyAlaGluGlySerProGlyArgAspGlySerProGlyAlaLysGlyAspArgGlyGluThrGlyProAlaGlyProProGlyAlaProGlyAlaProGlyAlaProGlyProValGlyProAlaGlyLysSerGlyAspArgGlyGluThrGlyProAlaGlyProAlaGlyProValGlyProValGlyAlaArgGlyProAlaGlyProGlnGlyProArgGlyAspLysGlyGluThrGlyGluGlnGlyAspArgGlyIleLysGlyHisArgGlyPheSerGlyLeuGlnGlyProProGlyProProGlySerProGlyGluGlnGlyProSerGlyAlaSerGlyProAlaGlyProArgGlyProProGlySerAlaGlyAlaProGlyLysAspGlyLeuAsnGlyLeuProGlyProIleGlyProProGlyProArgGlyArgThrGlyAspAlaGlyProValGlyProProGlyProProGlyProProGlyProProGlyProProSerAlaGlyPheAspPheSerPheLeuProGlnProProGlnGluLysAlaHisAspGlyGlyArgTyrTyrArgAlaAspAspAlaAsnValValArgAspArgAspLeuGluValAspThrThrLeuLysSerLeuSerGlnGlnIleGluAsnIleArgSerProGluGlySerArgLysAsnProAlaArgThrCysArgAspLeuLysMetCysHisSerAspTrpLysSerGlyGluTyrTrpIleAspProAsnGlnGlyCysAsnLeuAspAlaIleLysValPheCysAsnMetGluThrGlyGluThrCysValTyrProThrGlnProSerValAlaGlnLysAsnTrpTyrIleSerLysAsnProLysAspLysArgHisValTrpPheGlyGluSerMetThrAspGlyPheGlnPheGluTyrGlyGlyGlnGlySerAspProAlaAspValAlaIleGlnLeuThrPheLeuArgLeuMetSerThrGluAlaSerGlnAsnIleThrTyrHisCysLysAsnSerValAlaTyrMetAspGlnGlnThrGlyAsnLeuLysLysAlaLeuLeuLeuGlnGlySerAsnGluIleGluIleArgAlaGluGlyAsnSerArgPheThrTyrSerValThrValAspGlyCysThrSerHisThrGlyAlaTrpGlyLysThrValIleGluTyrLysThrThrLysThrSerArgLeuProIleIleAspValAlaProLeuAspValGlyAlaProAspGlnGluPheGlyPheAspValGlyProValCysPheLeuTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS248535"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 337,
          "referenceAllele": "G",
          "start": 336
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002197",
      "geneNCBI_id": 1277,
      "geneSymbol": "COL1A1",
      "hgvs": [
        "ENST00000471344.1:n.337G>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS313565"
    },
    {
      "@id": "http://reg.genome.network/allele/PA658668644",
      "coordinates": [
        {
          "allele": "T",
          "end": 1519,
          "referenceAllele": "G",
          "start": 1518
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002197",
      "geneNCBI_id": 1277,
      "geneSymbol": "COL1A1",
      "hgvs": [
        "NM_000088.3:c.1393G>T",
        "LRG_1t1:c.1393G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_000079.2:p.Glu465Ter",
        "hgvsWellDefined": "NP_000079.2:p.Glu466_Leu1464delinsGlyLysArgGlyAlaArgGlyGluProGlyProThrGlyLeuProGlyProProGlyGluArgGlyGlyProGlySerArgGlyPheProGlyAlaAspGlyValAlaGlyProLysGlyProAlaGlyGluArgGlySerProGlyProAlaGlyProLysGlySerProGlyGluAlaGlyArgProGlyGluAlaGlyLeuProGlyAlaLysGlyLeuThrGlySerProGlySerProGlyProAspGlyLysThrGlyProProGlyProAlaGlyGlnAspGlyArgProGlyProProGlyProProGlyAlaArgGlyGlnAlaGlyValMetGlyPheProGlyProLysGlyAlaAlaGlyGluProGlyLysAlaGlyGluArgGlyValProGlyProProGlyAlaValGlyProAlaGlyLysAspGlyGluAlaGlyAlaGlnGlyProProGlyProAlaGlyProAlaGlyGluArgGlyGluGlnGlyProAlaGlySerProGlyPheGlnGlyLeuProGlyProAlaGlyProProGlyGluAlaGlyLysProGlyGluGlnGlyValProGlyAspLeuGlyAlaProGlyProSerGlyAlaArgGlyGluArgGlyPheProGlyGluArgGlyValGlnGlyProProGlyProAlaGlyProArgGlyAlaAsnGlyAlaProGlyAsnAspGlyAlaLysGlyAspAlaGlyAlaProGlyAlaProGlySerGlnGlyAlaProGlyLeuGlnGlyMetProGlyGluArgGlyAlaAlaGlyLeuProGlyProLysGlyAspArgGlyAspAlaGlyProLysGlyAlaAspGlySerProGlyLysAspGlyValArgGlyLeuThrGlyProIleGlyProProGlyProAlaGlyAlaProGlyAspLysGlyGluSerGlyProSerGlyProAlaGlyProThrGlyAlaArgGlyAlaProGlyAspArgGlyGluProGlyProProGlyProAlaGlyPheAlaGlyProProGlyAlaAspGlyGlnProGlyAlaLysGlyGluProGlyAspAlaGlyAlaLysGlyAspAlaGlyProProGlyProAlaGlyProAlaGlyProProGlyProIleGlyAsnValGlyAlaProGlyAlaLysGlyAlaArgGlySerAlaGlyProProGlyAlaThrGlyPheProGlyAlaAlaGlyArgValGlyProProGlyProSerGlyAsnAlaGlyProProGlyProProGlyProAlaGlyLysGluGlyGlyLysGlyProArgGlyGluThrGlyProAlaGlyArgProGlyGluValGlyProProGlyProProGlyProAlaGlyGluLysGlySerProGlyAlaAspGlyProAlaGlyAlaProGlyThrProGlyProGlnGlyIleAlaGlyGlnArgGlyValValGlyLeuProGlyGlnArgGlyGluArgGlyPheProGlyLeuProGlyProSerGlyGluProGlyLysGlnGlyProSerGlyAlaSerGlyGluArgGlyProProGlyProMetGlyProProGlyLeuAlaGlyProProGlyGluSerGlyArgGluGlyAlaProGlyAlaGluGlySerProGlyArgAspGlySerProGlyAlaLysGlyAspArgGlyGluThrGlyProAlaGlyProProGlyAlaProGlyAlaProGlyAlaProGlyProValGlyProAlaGlyLysSerGlyAspArgGlyGluThrGlyProAlaGlyProAlaGlyProValGlyProValGlyAlaArgGlyProAlaGlyProGlnGlyProArgGlyAspLysGlyGluThrGlyGluGlnGlyAspArgGlyIleLysGlyHisArgGlyPheSerGlyLeuGlnGlyProProGlyProProGlySerProGlyGluGlnGlyProSerGlyAlaSerGlyProAlaGlyProArgGlyProProGlySerAlaGlyAlaProGlyLysAspGlyLeuAsnGlyLeuProGlyProIleGlyProProGlyProArgGlyArgThrGlyAspAlaGlyProValGlyProProGlyProProGlyProProGlyProProGlyProProSerAlaGlyPheAspPheSerPheLeuProGlnProProGlnGluLysAlaHisAspGlyGlyArgTyrTyrArgAlaAspAspAlaAsnValValArgAspArgAspLeuGluValAspThrThrLeuLysSerLeuSerGlnGlnIleGluAsnIleArgSerProGluGlySerArgLysAsnProAlaArgThrCysArgAspLeuLysMetCysHisSerAspTrpLysSerGlyGluTyrTrpIleAspProAsnGlnGlyCysAsnLeuAspAlaIleLysValPheCysAsnMetGluThrGlyGluThrCysValTyrProThrGlnProSerValAlaGlnLysAsnTrpTyrIleSerLysAsnProLysAspLysArgHisValTrpPheGlyGluSerMetThrAspGlyPheGlnPheGluTyrGlyGlyGlnGlySerAspProAlaAspValAlaIleGlnLeuThrPheLeuArgLeuMetSerThrGluAlaSerGlnAsnIleThrTyrHisCysLysAsnSerValAlaTyrMetAspGlnGlnThrGlyAsnLeuLysLysAlaLeuLeuLeuGlnGlySerAsnGluIleGluIleArgAlaGluGlyAsnSerArgPheThrTyrSerValThrValAspGlyCysThrSerHisThrGlyAlaTrpGlyLysThrValIleGluTyrLysThrThrLysThrSerArgLeuProIleIleAspValAlaProLeuAspValGlyAlaProAspGlnGluPheGlyPheAspValGlyProValCysPheLeuTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006152"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1528,
          "referenceAllele": "G",
          "start": 1527
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002197",
      "geneNCBI_id": 1277,
      "geneSymbol": "COL1A1",
      "hgvs": [
        "XM_005257058.3:c.1393G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005257115.2:p.Glu465Ter",
        "hgvsWellDefined": "XP_005257115.2:p.Glu466_Leu1374delinsGlyLysArgGlyAlaArgGlyGluProGlyProThrGlyLeuProGlyProProGlyGluArgGlyGlyProGlySerArgGlyPheProGlyAlaAspGlyValAlaGlyProLysGlyProAlaGlyGluArgGlySerProGlyProAlaGlyProLysGlySerProGlyGluAlaGlyArgProGlyGluAlaGlyLeuProGlyAlaLysGlyLeuThrGlySerProGlySerProGlyProAspGlyLysThrGlyProProGlyProAlaGlyGlnAspGlyArgProGlyProProGlyProProGlyAlaArgGlyGlnAlaGlyValMetGlyPheProGlyProLysGlyAlaAlaGlyGluProGlyLysAlaGlyGluArgGlyValProGlyProProGlyAlaValGlyProAlaGlyLysAspGlyGluAlaGlyAlaGlnGlyProProGlyProAlaGlyProAlaGlyGluArgGlyGluGlnGlyProAlaGlySerProGlyPheGlnGlyLeuProGlyProAlaGlyProProGlyGluAlaGlyLysProGlyGluGlnGlyValProGlyAspLeuGlyAlaProGlyProSerGlyAlaArgGlyGluArgGlyPheProGlyGluArgGlyValGlnGlyProProGlyProAlaGlyProArgGlyAlaAsnGlyAlaProGlyAsnAspGlyAlaLysGlyAspAlaGlyAlaProGlyAlaProGlySerGlnGlyAlaProGlyLeuGlnGlyMetProGlyGluArgGlyAlaAlaGlyLeuProGlyProLysGlyAspArgGlyAspAlaGlyProLysGlyAlaAspGlySerProGlyLysAspGlyValArgGlyLeuThrGlyProIleGlyProProGlyProAlaGlyAlaProGlyAspLysGlyGluSerGlyProSerGlyProAlaGlyProThrGlyAlaArgGlyAlaProGlyAspArgGlyGluProGlyProProGlyProAlaGlyPheAlaGlyProProGlyAlaAspGlyGlnProGlyAlaLysGlyGluProGlyAspAlaGlyAlaLysGlyAspAlaGlyProProGlyProAlaGlyProAlaGlyProProGlyProIleGlyAsnValGlyAlaProGlyAlaLysGlyAlaArgGlySerAlaGlyProProGlyAlaThrGlyPheProGlyAlaAlaGlyArgValGlyProProGlyProSerGlyGluProGlyLysGlnGlyProSerGlyAlaSerGlyGluArgGlyProProGlyProMetGlyProProGlyLeuAlaGlyProProGlyGluSerGlyArgGluGlyAlaProGlyAlaGluGlySerProGlyArgAspGlySerProGlyAlaLysGlyAspArgGlyGluThrGlyProAlaGlyProProGlyAlaProGlyAlaProGlyAlaProGlyProValGlyProAlaGlyLysSerGlyAspArgGlyGluThrGlyProAlaGlyProAlaGlyProValGlyProValGlyAlaArgGlyProAlaGlyProGlnGlyProArgGlyAspLysGlyGluThrGlyGluGlnGlyAspArgGlyIleLysGlyHisArgGlyPheSerGlyLeuGlnGlyProProGlyProProGlySerProGlyGluGlnGlyProSerGlyAlaSerGlyProAlaGlyProArgGlyProProGlySerAlaGlyAlaProGlyLysAspGlyLeuAsnGlyLeuProGlyProIleGlyProProGlyProArgGlyArgThrGlyAspAlaGlyProValGlyProProGlyProProGlyProProGlyProProGlyProProSerAlaGlyPheAspPheSerPheLeuProGlnProProGlnGluLysAlaHisAspGlyGlyArgTyrTyrArgAlaAspAspAlaAsnValValArgAspArgAspLeuGluValAspThrThrLeuLysSerLeuSerGlnGlnIleGluAsnIleArgSerProGluGlySerArgLysAsnProAlaArgThrCysArgAspLeuLysMetCysHisSerAspTrpLysSerGlyGluTyrTrpIleAspProAsnGlnGlyCysAsnLeuAspAlaIleLysValPheCysAsnMetGluThrGlyGluThrCysValTyrProThrGlnProSerValAlaGlnLysAsnTrpTyrIleSerLysAsnProLysAspLysArgHisValTrpPheGlyGluSerMetThrAspGlyPheGlnPheGluTyrGlyGlyGlnGlySerAspProAlaAspValAlaIleGlnLeuThrPheLeuArgLeuMetSerThrGluAlaSerGlnAsnIleThrTyrHisCysLysAsnSerValAlaTyrMetAspGlnGlnThrGlyAsnLeuLysLysAlaLeuLeuLeuGlnGlySerAsnGluIleGluIleArgAlaGluGlyAsnSerArgPheThrTyrSerValThrValAspGlyCysThrSerHisThrGlyAlaTrpGlyLysThrValIleGluTyrLysThrThrLysThrSerArgLeuProIleIleAspValAlaProLeuAspValGlyAlaProAspGlnGluPheGlyPheAspValGlyProValCysPheLeuTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS061555"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1091,
          "endIntronDirection": "+",
          "endIntronOffset": 1525,
          "referenceAllele": "G",
          "start": 1091,
          "startIntronDirection": "+",
          "startIntronOffset": 1524
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002197",
      "geneNCBI_id": 1277,
      "geneSymbol": "COL1A1",
      "hgvs": [
        "XM_005257059.3:c.957+1525G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005257116.2:n.957+1525G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS061556"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1330,
          "referenceAllele": "G",
          "start": 1329
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002197",
      "geneNCBI_id": 1277,
      "geneSymbol": "COL1A1",
      "hgvs": [
        "XM_011524341.1:c.1195G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011522643.1:p.Glu399Ter",
        "hgvsWellDefined": "XP_011522643.1:p.Glu400_Leu1398delinsGlyLysArgGlyAlaArgGlyGluProGlyProThrGlyLeuProGlyProProGlyGluArgGlyGlyProGlySerArgGlyPheProGlyAlaAspGlyValAlaGlyProLysGlyProAlaGlyGluArgGlySerProGlyProAlaGlyProLysGlySerProGlyGluAlaGlyArgProGlyGluAlaGlyLeuProGlyAlaLysGlyLeuThrGlySerProGlySerProGlyProAspGlyLysThrGlyProProGlyProAlaGlyGlnAspGlyArgProGlyProProGlyProProGlyAlaArgGlyGlnAlaGlyValMetGlyPheProGlyProLysGlyAlaAlaGlyGluProGlyLysAlaGlyGluArgGlyValProGlyProProGlyAlaValGlyProAlaGlyLysAspGlyGluAlaGlyAlaGlnGlyProProGlyProAlaGlyProAlaGlyGluArgGlyGluGlnGlyProAlaGlySerProGlyPheGlnGlyLeuProGlyProAlaGlyProProGlyGluAlaGlyLysProGlyGluGlnGlyValProGlyAspLeuGlyAlaProGlyProSerGlyAlaArgGlyGluArgGlyPheProGlyGluArgGlyValGlnGlyProProGlyProAlaGlyProArgGlyAlaAsnGlyAlaProGlyAsnAspGlyAlaLysGlyAspAlaGlyAlaProGlyAlaProGlySerGlnGlyAlaProGlyLeuGlnGlyMetProGlyGluArgGlyAlaAlaGlyLeuProGlyProLysGlyAspArgGlyAspAlaGlyProLysGlyAlaAspGlySerProGlyLysAspGlyValArgGlyLeuThrGlyProIleGlyProProGlyProAlaGlyAlaProGlyAspLysGlyGluSerGlyProSerGlyProAlaGlyProThrGlyAlaArgGlyAlaProGlyAspArgGlyGluProGlyProProGlyProAlaGlyPheAlaGlyProProGlyAlaAspGlyGlnProGlyAlaLysGlyGluProGlyAspAlaGlyAlaLysGlyAspAlaGlyProProGlyProAlaGlyProAlaGlyProProGlyProIleGlyAsnValGlyAlaProGlyAlaLysGlyAlaArgGlySerAlaGlyProProGlyAlaThrGlyPheProGlyAlaAlaGlyArgValGlyProProGlyProSerGlyAsnAlaGlyProProGlyProProGlyProAlaGlyLysGluGlyGlyLysGlyProArgGlyGluThrGlyProAlaGlyArgProGlyGluValGlyProProGlyProProGlyProAlaGlyGluLysGlySerProGlyAlaAspGlyProAlaGlyAlaProGlyThrProGlyProGlnGlyIleAlaGlyGlnArgGlyValValGlyLeuProGlyGlnArgGlyGluArgGlyPheProGlyLeuProGlyProSerGlyGluProGlyLysGlnGlyProSerGlyAlaSerGlyGluArgGlyProProGlyProMetGlyProProGlyLeuAlaGlyProProGlyGluSerGlyArgGluGlyAlaProGlyAlaGluGlySerProGlyArgAspGlySerProGlyAlaLysGlyAspArgGlyGluThrGlyProAlaGlyProProGlyAlaProGlyAlaProGlyAlaProGlyProValGlyProAlaGlyLysSerGlyAspArgGlyGluThrGlyProAlaGlyProAlaGlyProValGlyProValGlyAlaArgGlyProAlaGlyProGlnGlyProArgGlyAspLysGlyGluThrGlyGluGlnGlyAspArgGlyIleLysGlyHisArgGlyPheSerGlyLeuGlnGlyProProGlyProProGlySerProGlyGluGlnGlyProSerGlyAlaSerGlyProAlaGlyProArgGlyProProGlySerAlaGlyAlaProGlyLysAspGlyLeuAsnGlyLeuProGlyProIleGlyProProGlyProArgGlyArgThrGlyAspAlaGlyProValGlyProProGlyProProGlyProProGlyProProGlyProProSerAlaGlyPheAspPheSerPheLeuProGlnProProGlnGluLysAlaHisAspGlyGlyArgTyrTyrArgAlaAspAspAlaAsnValValArgAspArgAspLeuGluValAspThrThrLeuLysSerLeuSerGlnGlnIleGluAsnIleArgSerProGluGlySerArgLysAsnProAlaArgThrCysArgAspLeuLysMetCysHisSerAspTrpLysSerGlyGluTyrTrpIleAspProAsnGlnGlyCysAsnLeuAspAlaIleLysValPheCysAsnMetGluThrGlyGluThrCysValTyrProThrGlnProSerValAlaGlnLysAsnTrpTyrIleSerLysAsnProLysAspLysArgHisValTrpPheGlyGluSerMetThrAspGlyPheGlnPheGluTyrGlyGlyGlnGlySerAspProAlaAspValAlaIleGlnLeuThrPheLeuArgLeuMetSerThrGluAlaSerGlnAsnIleThrTyrHisCysLysAsnSerValAlaTyrMetAspGlnGlnThrGlyAsnLeuLysLysAlaLeuLeuLeuGlnGlySerAsnGluIleGluIleArgAlaGluGlyAsnSerArgPheThrTyrSerValThrValAspGlyCysThrSerHisThrGlyAlaTrpGlyLysThrValIleGluTyrLysThrThrLysThrSerArgLeuProIleIleAspValAlaProLeuAspValGlyAlaProAspGlnGluPheGlyPheAspValGlyProValCysPheLeuTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS091468"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1529,
          "referenceAllele": "G",
          "start": 1528
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002197",
      "geneNCBI_id": 1277,
      "geneSymbol": "COL1A1",
      "hgvs": [
        "XM_005257058.4:c.1393G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005257115.2:p.Glu465Ter",
        "hgvsWellDefined": "XP_005257115.2:p.Glu466_Leu1374delinsGlyLysArgGlyAlaArgGlyGluProGlyProThrGlyLeuProGlyProProGlyGluArgGlyGlyProGlySerArgGlyPheProGlyAlaAspGlyValAlaGlyProLysGlyProAlaGlyGluArgGlySerProGlyProAlaGlyProLysGlySerProGlyGluAlaGlyArgProGlyGluAlaGlyLeuProGlyAlaLysGlyLeuThrGlySerProGlySerProGlyProAspGlyLysThrGlyProProGlyProAlaGlyGlnAspGlyArgProGlyProProGlyProProGlyAlaArgGlyGlnAlaGlyValMetGlyPheProGlyProLysGlyAlaAlaGlyGluProGlyLysAlaGlyGluArgGlyValProGlyProProGlyAlaValGlyProAlaGlyLysAspGlyGluAlaGlyAlaGlnGlyProProGlyProAlaGlyProAlaGlyGluArgGlyGluGlnGlyProAlaGlySerProGlyPheGlnGlyLeuProGlyProAlaGlyProProGlyGluAlaGlyLysProGlyGluGlnGlyValProGlyAspLeuGlyAlaProGlyProSerGlyAlaArgGlyGluArgGlyPheProGlyGluArgGlyValGlnGlyProProGlyProAlaGlyProArgGlyAlaAsnGlyAlaProGlyAsnAspGlyAlaLysGlyAspAlaGlyAlaProGlyAlaProGlySerGlnGlyAlaProGlyLeuGlnGlyMetProGlyGluArgGlyAlaAlaGlyLeuProGlyProLysGlyAspArgGlyAspAlaGlyProLysGlyAlaAspGlySerProGlyLysAspGlyValArgGlyLeuThrGlyProIleGlyProProGlyProAlaGlyAlaProGlyAspLysGlyGluSerGlyProSerGlyProAlaGlyProThrGlyAlaArgGlyAlaProGlyAspArgGlyGluProGlyProProGlyProAlaGlyPheAlaGlyProProGlyAlaAspGlyGlnProGlyAlaLysGlyGluProGlyAspAlaGlyAlaLysGlyAspAlaGlyProProGlyProAlaGlyProAlaGlyProProGlyProIleGlyAsnValGlyAlaProGlyAlaLysGlyAlaArgGlySerAlaGlyProProGlyAlaThrGlyPheProGlyAlaAlaGlyArgValGlyProProGlyProSerGlyGluProGlyLysGlnGlyProSerGlyAlaSerGlyGluArgGlyProProGlyProMetGlyProProGlyLeuAlaGlyProProGlyGluSerGlyArgGluGlyAlaProGlyAlaGluGlySerProGlyArgAspGlySerProGlyAlaLysGlyAspArgGlyGluThrGlyProAlaGlyProProGlyAlaProGlyAlaProGlyAlaProGlyProValGlyProAlaGlyLysSerGlyAspArgGlyGluThrGlyProAlaGlyProAlaGlyProValGlyProValGlyAlaArgGlyProAlaGlyProGlnGlyProArgGlyAspLysGlyGluThrGlyGluGlnGlyAspArgGlyIleLysGlyHisArgGlyPheSerGlyLeuGlnGlyProProGlyProProGlySerProGlyGluGlnGlyProSerGlyAlaSerGlyProAlaGlyProArgGlyProProGlySerAlaGlyAlaProGlyLysAspGlyLeuAsnGlyLeuProGlyProIleGlyProProGlyProArgGlyArgThrGlyAspAlaGlyProValGlyProProGlyProProGlyProProGlyProProGlyProProSerAlaGlyPheAspPheSerPheLeuProGlnProProGlnGluLysAlaHisAspGlyGlyArgTyrTyrArgAlaAspAspAlaAsnValValArgAspArgAspLeuGluValAspThrThrLeuLysSerLeuSerGlnGlnIleGluAsnIleArgSerProGluGlySerArgLysAsnProAlaArgThrCysArgAspLeuLysMetCysHisSerAspTrpLysSerGlyGluTyrTrpIleAspProAsnGlnGlyCysAsnLeuAspAlaIleLysValPheCysAsnMetGluThrGlyGluThrCysValTyrProThrGlnProSerValAlaGlnLysAsnTrpTyrIleSerLysAsnProLysAspLysArgHisValTrpPheGlyGluSerMetThrAspGlyPheGlnPheGluTyrGlyGlyGlnGlySerAspProAlaAspValAlaIleGlnLeuThrPheLeuArgLeuMetSerThrGluAlaSerGlnAsnIleThrTyrHisCysLysAsnSerValAlaTyrMetAspGlnGlnThrGlyAsnLeuLysLysAlaLeuLeuLeuGlnGlySerAsnGluIleGluIleArgAlaGluGlyAsnSerArgPheThrTyrSerValThrValAspGlyCysThrSerHisThrGlyAlaTrpGlyLysThrValIleGluTyrLysThrThrLysThrSerArgLeuProIleIleAspValAlaProLeuAspValGlyAlaProAspGlnGluPheGlyPheAspValGlyProValCysPheLeuTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS534587"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1092,
          "endIntronDirection": "+",
          "endIntronOffset": 1525,
          "referenceAllele": "G",
          "start": 1092,
          "startIntronDirection": "+",
          "startIntronOffset": 1524
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002197",
      "geneNCBI_id": 1277,
      "geneSymbol": "COL1A1",
      "hgvs": [
        "XM_005257059.4:c.957+1525G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005257116.2:n.957+1525G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS534588"
    },
    {
      "@id": "http://reg.genome.network/allele/PA658668644",
      "coordinates": [
        {
          "allele": "T",
          "end": 1511,
          "referenceAllele": "G",
          "start": 1510
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002197",
      "geneNCBI_id": 1277,
      "geneSymbol": "COL1A1",
      "hgvs": [
        "NM_000088.4:c.1393G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_000079.2:p.Glu465Ter",
        "hgvsWellDefined": "NP_000079.2:p.Glu466_Leu1464delinsGlyLysArgGlyAlaArgGlyGluProGlyProThrGlyLeuProGlyProProGlyGluArgGlyGlyProGlySerArgGlyPheProGlyAlaAspGlyValAlaGlyProLysGlyProAlaGlyGluArgGlySerProGlyProAlaGlyProLysGlySerProGlyGluAlaGlyArgProGlyGluAlaGlyLeuProGlyAlaLysGlyLeuThrGlySerProGlySerProGlyProAspGlyLysThrGlyProProGlyProAlaGlyGlnAspGlyArgProGlyProProGlyProProGlyAlaArgGlyGlnAlaGlyValMetGlyPheProGlyProLysGlyAlaAlaGlyGluProGlyLysAlaGlyGluArgGlyValProGlyProProGlyAlaValGlyProAlaGlyLysAspGlyGluAlaGlyAlaGlnGlyProProGlyProAlaGlyProAlaGlyGluArgGlyGluGlnGlyProAlaGlySerProGlyPheGlnGlyLeuProGlyProAlaGlyProProGlyGluAlaGlyLysProGlyGluGlnGlyValProGlyAspLeuGlyAlaProGlyProSerGlyAlaArgGlyGluArgGlyPheProGlyGluArgGlyValGlnGlyProProGlyProAlaGlyProArgGlyAlaAsnGlyAlaProGlyAsnAspGlyAlaLysGlyAspAlaGlyAlaProGlyAlaProGlySerGlnGlyAlaProGlyLeuGlnGlyMetProGlyGluArgGlyAlaAlaGlyLeuProGlyProLysGlyAspArgGlyAspAlaGlyProLysGlyAlaAspGlySerProGlyLysAspGlyValArgGlyLeuThrGlyProIleGlyProProGlyProAlaGlyAlaProGlyAspLysGlyGluSerGlyProSerGlyProAlaGlyProThrGlyAlaArgGlyAlaProGlyAspArgGlyGluProGlyProProGlyProAlaGlyPheAlaGlyProProGlyAlaAspGlyGlnProGlyAlaLysGlyGluProGlyAspAlaGlyAlaLysGlyAspAlaGlyProProGlyProAlaGlyProAlaGlyProProGlyProIleGlyAsnValGlyAlaProGlyAlaLysGlyAlaArgGlySerAlaGlyProProGlyAlaThrGlyPheProGlyAlaAlaGlyArgValGlyProProGlyProSerGlyAsnAlaGlyProProGlyProProGlyProAlaGlyLysGluGlyGlyLysGlyProArgGlyGluThrGlyProAlaGlyArgProGlyGluValGlyProProGlyProProGlyProAlaGlyGluLysGlySerProGlyAlaAspGlyProAlaGlyAlaProGlyThrProGlyProGlnGlyIleAlaGlyGlnArgGlyValValGlyLeuProGlyGlnArgGlyGluArgGlyPheProGlyLeuProGlyProSerGlyGluProGlyLysGlnGlyProSerGlyAlaSerGlyGluArgGlyProProGlyProMetGlyProProGlyLeuAlaGlyProProGlyGluSerGlyArgGluGlyAlaProGlyAlaGluGlySerProGlyArgAspGlySerProGlyAlaLysGlyAspArgGlyGluThrGlyProAlaGlyProProGlyAlaProGlyAlaProGlyAlaProGlyProValGlyProAlaGlyLysSerGlyAspArgGlyGluThrGlyProAlaGlyProAlaGlyProValGlyProValGlyAlaArgGlyProAlaGlyProGlnGlyProArgGlyAspLysGlyGluThrGlyGluGlnGlyAspArgGlyIleLysGlyHisArgGlyPheSerGlyLeuGlnGlyProProGlyProProGlySerProGlyGluGlnGlyProSerGlyAlaSerGlyProAlaGlyProArgGlyProProGlySerAlaGlyAlaProGlyLysAspGlyLeuAsnGlyLeuProGlyProIleGlyProProGlyProArgGlyArgThrGlyAspAlaGlyProValGlyProProGlyProProGlyProProGlyProProGlyProProSerAlaGlyPheAspPheSerPheLeuProGlnProProGlnGluLysAlaHisAspGlyGlyArgTyrTyrArgAlaAspAspAlaAsnValValArgAspArgAspLeuGluValAspThrThrLeuLysSerLeuSerGlnGlnIleGluAsnIleArgSerProGluGlySerArgLysAsnProAlaArgThrCysArgAspLeuLysMetCysHisSerAspTrpLysSerGlyGluTyrTrpIleAspProAsnGlnGlyCysAsnLeuAspAlaIleLysValPheCysAsnMetGluThrGlyGluThrCysValTyrProThrGlnProSerValAlaGlnLysAsnTrpTyrIleSerLysAsnProLysAspLysArgHisValTrpPheGlyGluSerMetThrAspGlyPheGlnPheGluTyrGlyGlyGlnGlySerAspProAlaAspValAlaIleGlnLeuThrPheLeuArgLeuMetSerThrGluAlaSerGlnAsnIleThrTyrHisCysLysAsnSerValAlaTyrMetAspGlnGlnThrGlyAsnLeuLysLysAlaLeuLeuLeuGlnGlySerAsnGluIleGluIleArgAlaGluGlyAsnSerArgPheThrTyrSerValThrValAspGlyCysThrSerHisThrGlyAlaTrpGlyLysThrValIleGluTyrLysThrThrLysThrSerArgLeuProIleIleAspValAlaProLeuAspValGlyAlaProAspGlnGluPheGlyPheAspValGlyProValCysPheLeuTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS674695",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000225964.10:c.1393G>T"
          },
          "RefSeq": {
            "hgvs": "NM_000088.4:c.1393G>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000225964.6:p.Glu465Ter"
          },
          "RefSeq": {
            "hgvs": "NP_000079.2:p.Glu465Ter"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}