{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA340594",
  "communityStandardTitle": [
    "NM_001277115.2(DNAH11):c.12363C>G (p.Tyr4121Ter)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=21514[alleleid]",
        "alleleId": 21514,
        "preferredName": "NM_001277115.2(DNAH11):c.12363C>G (p.Tyr4121Ter)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/6475",
        "RCV": [
          "RCV000006848",
          "RCV002362568"
        ],
        "variationId": 6475
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/7-21920487-C-G",
        "id": "7-21920487-C-G",
        "variant": "7:21920487 C / G"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr7:g.21920487C>G?assembly=hg19",
        "id": "chr7:g.21920487C>G"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr7:g.21880869C>G?assembly=hg38",
        "id": "chr7:g.21880869C>G"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/121908855",
        "rs": 121908855
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/7-21920487-C-G?dataset=gnomad_r2_1",
        "id": "7-21920487-C-G",
        "variant": "7:21920487 C / G"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/7-21880869-C-G?dataset=gnomad_r3",
        "id": "7-21880869-C-G",
        "variant": "7:21880869 C / G"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/7-21880869-C-G?dataset=gnomad_r4",
        "id": "7-21880869-C-G",
        "variant": "7:21880869 C / G"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "7",
      "coordinates": [
        {
          "allele": "G",
          "end": 21880869,
          "referenceAllele": "C",
          "start": 21880868
        }
      ],
      "hgvs": [
        "NC_000007.14:g.21880869C>G",
        "CM000669.2:g.21880869C>G"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000055"
    },
    {
      "chromosome": "7",
      "coordinates": [
        {
          "allele": "G",
          "end": 21920487,
          "referenceAllele": "C",
          "start": 21920486
        }
      ],
      "hgvs": [
        "NC_000007.13:g.21920487C>G",
        "CM000669.1:g.21920487C>G"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000031"
    },
    {
      "chromosome": "7",
      "coordinates": [
        {
          "allele": "G",
          "end": 21887012,
          "referenceAllele": "C",
          "start": 21887011
        }
      ],
      "hgvs": [
        "NC_000007.12:g.21887012C>G"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000007"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 342655,
          "referenceAllele": "C",
          "start": 342654
        }
      ],
      "hgvs": [
        "NG_012886.2:g.342655C>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS002609"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 12570,
          "referenceAllele": "C",
          "start": 12569
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002942",
      "geneNCBI_id": 8701,
      "geneSymbol": "DNAH11",
      "hgvs": [
        "ENST00000409508.8:c.12363C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000475939.1:p.Tyr4121Ter",
        "hgvsWellDefined": "ENSP00000475939.1:p.Tyr4121_Ala4516delinsAsnTyrLeuGluAlaAsnSerLysValProTrpGluAspLeuArgTyrLeuPheGlyGluIleMetTyrGlyGlyHisIleThrAspAspTrpAspArgLysLeuCysArgValTyrLeuGluGluPheMetAsnProSerLeuThrGluAspGluLeuMetLeuAlaProGlyPheAlaAlaProProTyrLeuAspTyrAlaGlyTyrHisGlnTyrIleGluGluMetLeuProProGluSerProAlaLeuTyrGlyLeuHisProAsnAlaGluIleGluPheLeuThrValThrSerAsnThrLeuPheArgThrLeuLeuGluMetGlnProArgAsnAlaLeuSerGlyAspGluLeuGlyGlnSerThrGluGluLysValLysAsnValLeuAspAspIleLeuGluLysLeuProGluGluPheAsnMetAlaGluIleMetGlnLysAsnSerAsnArgSerProTyrValLeuValCysPheGlnGluCysGluArgMetAsnIleLeuIleArgGluIleArgIleSerLeuGluGlnLeuAspLeuSerLeuLysGlyGluLeuAlaLeuSerProAlaValGluAlaGlnGlnPheAlaLeuSerTyrAspThrValProAspThrTrpSerLysLeuAlaTyrProSerThrTyrGlyLeuAlaGlnTrpPheAsnAspLeuLeuLeuArgCysArgGluLeuAspThrTrpThrGlnAspLeuThrLeuProAlaValValTrpLeuSerGlyPhePheAsnProGlnSerPheLeuThrAlaIleMetGlnThrMetAlaArgLysAsnGluTrpProLeuAspLysThrArgLeuThrAlaAspValThrLysLysThrLysGluAspTyrGlyHisProProArgGluGlyAlaTyrLeuHisGlyLeuPheMetGluGlyAlaArgTrpAspThrGlnAlaGlyThrIleValGluAlaArgLeuLysGluLeuAlaCysProMetProValIlePheAlaLysAlaThrProValAspArgGlnGluThrLysGlnThrTyrGluCysProValTyrArgThrLysLeuArgGlyProSerTyrIleTrpThrPheArgLeuLysSerGluGluLysThrAlaLysTrpValLeuAlaGlyValAlaLeuLeuLeuGluAlaTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS754305",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000409508.8:c.12363C>G"
          },
          "RefSeq": {
            "hgvs": "NM_001277115.2:c.12363C>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000475939.1:p.Tyr4121Ter"
          },
          "RefSeq": {
            "hgvs": "NP_001264044.1:p.Tyr4121Ter"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 12415,
          "referenceAllele": "C",
          "start": 12414
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002942",
      "geneNCBI_id": 8701,
      "geneSymbol": "DNAH11",
      "hgvs": [
        "ENST00000328843.10:c.12384C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000330671.7:p.Tyr4128Ter",
        "hgvsWellDefined": "ENSP00000330671.7:p.Tyr4128_Ala4523delinsAsnTyrLeuGluAlaAsnSerLysValProTrpGluAspLeuArgTyrLeuPheGlyGluIleMetTyrGlyGlyHisIleThrAspAspTrpAspArgLysLeuCysArgValTyrLeuGluGluPheMetAsnProSerLeuThrGluAspGluLeuMetLeuAlaProGlyPheAlaAlaProProTyrLeuAspTyrAlaGlyTyrHisGlnTyrIleGluGluMetLeuProProGluSerProAlaLeuTyrGlyLeuHisProAsnAlaGluIleGluPheLeuThrValThrSerAsnThrLeuPheArgThrLeuLeuGluMetGlnProArgAsnAlaLeuSerGlyAspGluLeuGlyGlnSerThrGluGluLysValLysAsnValLeuAspAspIleLeuGluLysLeuProGluGluPheAsnMetAlaGluIleMetGlnLysAsnSerAsnArgSerProTyrValLeuValCysPheGlnGluCysGluArgMetAsnIleLeuIleArgGluIleArgIleSerLeuGluGlnLeuAspLeuSerLeuLysGlyGluLeuAlaLeuSerProAlaValGluAlaGlnGlnPheAlaLeuSerTyrAspThrValProAspThrTrpSerLysLeuAlaTyrProSerThrTyrGlyLeuAlaGlnTrpPheAsnAspLeuLeuLeuArgCysArgGluLeuAspThrTrpThrGlnAspLeuThrLeuProAlaValValTrpLeuSerGlyPhePheAsnProGlnSerPheLeuThrAlaIleMetGlnThrMetAlaArgLysAsnGluTrpProLeuAspLysThrArgLeuThrAlaAspValThrLysLysThrLysGluAspTyrGlyHisProProArgGluGlyAlaTyrLeuHisGlyLeuPheMetGluGlyAlaArgTrpAspThrGlnAlaGlyThrIleValGluAlaArgLeuLysGluLeuAlaCysProMetProValIlePheAlaLysAlaThrProValAspArgGlnGluThrLysGlnThrTyrGluCysProValTyrArgThrLysLeuArgGlyProSerTyrIleTrpThrPheArgLeuLysSerGluGluLysThrAlaLysTrpValLeuAlaGlyValAlaLeuLeuLeuGluAlaTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS258981"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 12394,
          "referenceAllele": "C",
          "start": 12393
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002942",
      "geneNCBI_id": 8701,
      "geneSymbol": "DNAH11",
      "hgvs": [
        "ENST00000409508.7:c.12363C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000475939.1:p.Tyr4121Ter",
        "hgvsWellDefined": "ENSP00000475939.1:p.Tyr4121_Ala4516delinsAsnTyrLeuGluAlaAsnSerLysValProTrpGluAspLeuArgTyrLeuPheGlyGluIleMetTyrGlyGlyHisIleThrAspAspTrpAspArgLysLeuCysArgValTyrLeuGluGluPheMetAsnProSerLeuThrGluAspGluLeuMetLeuAlaProGlyPheAlaAlaProProTyrLeuAspTyrAlaGlyTyrHisGlnTyrIleGluGluMetLeuProProGluSerProAlaLeuTyrGlyLeuHisProAsnAlaGluIleGluPheLeuThrValThrSerAsnThrLeuPheArgThrLeuLeuGluMetGlnProArgAsnAlaLeuSerGlyAspGluLeuGlyGlnSerThrGluGluLysValLysAsnValLeuAspAspIleLeuGluLysLeuProGluGluPheAsnMetAlaGluIleMetGlnLysAsnSerAsnArgSerProTyrValLeuValCysPheGlnGluCysGluArgMetAsnIleLeuIleArgGluIleArgIleSerLeuGluGlnLeuAspLeuSerLeuLysGlyGluLeuAlaLeuSerProAlaValGluAlaGlnGlnPheAlaLeuSerTyrAspThrValProAspThrTrpSerLysLeuAlaTyrProSerThrTyrGlyLeuAlaGlnTrpPheAsnAspLeuLeuLeuArgCysArgGluLeuAspThrTrpThrGlnAspLeuThrLeuProAlaValValTrpLeuSerGlyPhePheAsnProGlnSerPheLeuThrAlaIleMetGlnThrMetAlaArgLysAsnGluTrpProLeuAspLysThrArgLeuThrAlaAspValThrLysLysThrLysGluAspTyrGlyHisProProArgGluGlyAlaTyrLeuHisGlyLeuPheMetGluGlyAlaArgTrpAspThrGlnAlaGlyThrIleValGluAlaArgLeuLysGluLeuAlaCysProMetProValIlePheAlaLysAlaThrProValAspArgGlnGluThrLysGlnThrTyrGluCysProValTyrArgThrLysLeuArgGlyProSerTyrIleTrpThrPheArgLeuLysSerGluGluLysThrAlaLysTrpValLeuAlaGlyValAlaLeuLeuLeuGluAlaTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS281610"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 12415,
          "referenceAllele": "C",
          "start": 12414
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002942",
      "geneNCBI_id": 8701,
      "geneSymbol": "DNAH11",
      "hgvs": [
        "ENST00000620169.4:c.12384C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000481693.1:p.Tyr4128Ter",
        "hgvsWellDefined": "ENSP00000481693.1:p.Tyr4128_Ala4523delinsAsnTyrLeuGluAlaAsnSerLysValProTrpGluAspLeuArgTyrLeuPheGlyGluIleMetTyrGlyGlyHisIleThrAspAspTrpAspArgLysLeuCysArgValTyrLeuGluGluPheMetAsnProSerLeuThrGluAspGluLeuMetLeuAlaProGlyPheAlaAlaProProTyrLeuAspTyrAlaGlyTyrHisGlnTyrIleGluGluMetLeuProProGluSerProAlaLeuTyrGlyLeuHisProAsnAlaGluIleGluPheLeuThrValThrSerAsnThrLeuPheArgThrLeuLeuGluMetGlnProArgAsnAlaLeuSerGlyAspGluLeuGlyGlnSerThrGluGluLysValLysAsnValLeuAspAspIleLeuGluLysLeuProGluGluPheAsnMetAlaGluIleMetGlnLysAsnSerAsnArgSerProTyrValLeuValCysPheGlnGluCysGluArgMetAsnIleLeuIleArgGluIleArgIleSerLeuGluGlnLeuAspLeuSerLeuLysGlyGluLeuAlaLeuSerProAlaValGluAlaGlnGlnPheAlaLeuSerTyrAspThrValProAspThrTrpSerLysLeuAlaTyrProSerThrTyrGlyLeuAlaGlnTrpPheAsnAspLeuLeuLeuArgCysArgGluLeuAspThrTrpThrGlnAspLeuThrLeuProAlaValValTrpLeuSerGlyPhePheAsnProGlnSerPheLeuThrAlaIleMetGlnThrMetAlaArgLysAsnGluTrpProLeuAspLysThrArgLeuThrAlaAspValThrLysLysThrLysGluAspTyrGlyHisProProArgGluGlyAlaTyrLeuHisGlyLeuPheMetGluGlyAlaArgTrpAspThrGlnAlaGlyThrIleValGluAlaArgLeuLysGluLeuAlaCysProMetProValIlePheAlaLysAlaThrProValAspArgGlnGluThrLysGlnThrTyrGluCysProValTyrArgThrLysLeuArgGlyProSerTyrIleTrpThrPheArgLeuLysSerGluGluLysThrAlaLysTrpValLeuAlaGlyValAlaLeuLeuLeuGluAlaTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS404703"
    },
    {
      "@id": "http://reg.genome.network/allele/PA340595",
      "coordinates": [
        {
          "allele": "G",
          "end": 12394,
          "referenceAllele": "C",
          "start": 12393
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002942",
      "geneNCBI_id": 8701,
      "geneSymbol": "DNAH11",
      "hgvs": [
        "NM_001277115.1:c.12363C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001264044.1:p.Tyr4121Ter",
        "hgvsWellDefined": "NP_001264044.1:p.Tyr4121_Ala4516delinsAsnTyrLeuGluAlaAsnSerLysValProTrpGluAspLeuArgTyrLeuPheGlyGluIleMetTyrGlyGlyHisIleThrAspAspTrpAspArgLysLeuCysArgValTyrLeuGluGluPheMetAsnProSerLeuThrGluAspGluLeuMetLeuAlaProGlyPheAlaAlaProProTyrLeuAspTyrAlaGlyTyrHisGlnTyrIleGluGluMetLeuProProGluSerProAlaLeuTyrGlyLeuHisProAsnAlaGluIleGluPheLeuThrValThrSerAsnThrLeuPheArgThrLeuLeuGluMetGlnProArgAsnAlaLeuSerGlyAspGluLeuGlyGlnSerThrGluGluLysValLysAsnValLeuAspAspIleLeuGluLysLeuProGluGluPheAsnMetAlaGluIleMetGlnLysAsnSerAsnArgSerProTyrValLeuValCysPheGlnGluCysGluArgMetAsnIleLeuIleArgGluIleArgIleSerLeuGluGlnLeuAspLeuSerLeuLysGlyGluLeuAlaLeuSerProAlaValGluAlaGlnGlnPheAlaLeuSerTyrAspThrValProAspThrTrpSerLysLeuAlaTyrProSerThrTyrGlyLeuAlaGlnTrpPheAsnAspLeuLeuLeuArgCysArgGluLeuAspThrTrpThrGlnAspLeuThrLeuProAlaValValTrpLeuSerGlyPhePheAsnProGlnSerPheLeuThrAlaIleMetGlnThrMetAlaArgLysAsnGluTrpProLeuAspLysThrArgLeuThrAlaAspValThrLysLysThrLysGluAspTyrGlyHisProProArgGluGlyAlaTyrLeuHisGlyLeuPheMetGluGlyAlaArgTrpAspThrGlnAlaGlyThrIleValGluAlaArgLeuLysGluLeuAlaCysProMetProValIlePheAlaLysAlaThrProValAspArgGlnGluThrLysGlnThrTyrGluCysProValTyrArgThrLysLeuArgGlyProSerTyrIleTrpThrPheArgLeuLysSerGluGluLysThrAlaLysTrpValLeuAlaGlyValAlaLeuLeuLeuGluAlaTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS020967"
    },
    {
      "@id": "http://reg.genome.network/allele/PA340595",
      "coordinates": [
        {
          "allele": "G",
          "end": 12570,
          "referenceAllele": "C",
          "start": 12569
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002942",
      "geneNCBI_id": 8701,
      "geneSymbol": "DNAH11",
      "hgvs": [
        "NM_001277115.2:c.12363C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001264044.1:p.Tyr4121Ter",
        "hgvsWellDefined": "NP_001264044.1:p.Tyr4121_Ala4516delinsAsnTyrLeuGluAlaAsnSerLysValProTrpGluAspLeuArgTyrLeuPheGlyGluIleMetTyrGlyGlyHisIleThrAspAspTrpAspArgLysLeuCysArgValTyrLeuGluGluPheMetAsnProSerLeuThrGluAspGluLeuMetLeuAlaProGlyPheAlaAlaProProTyrLeuAspTyrAlaGlyTyrHisGlnTyrIleGluGluMetLeuProProGluSerProAlaLeuTyrGlyLeuHisProAsnAlaGluIleGluPheLeuThrValThrSerAsnThrLeuPheArgThrLeuLeuGluMetGlnProArgAsnAlaLeuSerGlyAspGluLeuGlyGlnSerThrGluGluLysValLysAsnValLeuAspAspIleLeuGluLysLeuProGluGluPheAsnMetAlaGluIleMetGlnLysAsnSerAsnArgSerProTyrValLeuValCysPheGlnGluCysGluArgMetAsnIleLeuIleArgGluIleArgIleSerLeuGluGlnLeuAspLeuSerLeuLysGlyGluLeuAlaLeuSerProAlaValGluAlaGlnGlnPheAlaLeuSerTyrAspThrValProAspThrTrpSerLysLeuAlaTyrProSerThrTyrGlyLeuAlaGlnTrpPheAsnAspLeuLeuLeuArgCysArgGluLeuAspThrTrpThrGlnAspLeuThrLeuProAlaValValTrpLeuSerGlyPhePheAsnProGlnSerPheLeuThrAlaIleMetGlnThrMetAlaArgLysAsnGluTrpProLeuAspLysThrArgLeuThrAlaAspValThrLysLysThrLysGluAspTyrGlyHisProProArgGluGlyAlaTyrLeuHisGlyLeuPheMetGluGlyAlaArgTrpAspThrGlnAlaGlyThrIleValGluAlaArgLeuLysGluLeuAlaCysProMetProValIlePheAlaLysAlaThrProValAspArgGlnGluThrLysGlnThrTyrGluCysProValTyrArgThrLysLeuArgGlyProSerTyrIleTrpThrPheArgLeuLysSerGluGluLysThrAlaLysTrpValLeuAlaGlyValAlaLeuLeuLeuGluAlaTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS664162",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000409508.8:c.12363C>G"
          },
          "RefSeq": {
            "hgvs": "NM_001277115.2:c.12363C>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000475939.1:p.Tyr4121Ter"
          },
          "RefSeq": {
            "hgvs": "NP_001264044.1:p.Tyr4121Ter"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}