{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA16611765", "communityStandardTitle": [ "NM_001369.3(DNAH5):c.12265C>T (p.Gln4089Ter)" ], "externalRecords": { "ClinVarAlleles": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=394730[alleleid]", "alleleId": 394730, "preferredName": "NM_001369.3(DNAH5):c.12265C>T (p.Gln4089Ter)" } ], "ClinVarVariations": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/407227", "RCV": [ "RCV000469460", "RCV000760474" ], "variationId": 407227 } ], "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chr5:g.13721123G>A?assembly=hg19", "id": "chr5:g.13721123G>A" } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chr5:g.13721014G>A?assembly=hg38", "id": "chr5:g.13721014G>A" } ], "dbSNP": [ { "@id": "http://www.ncbi.nlm.nih.gov/snp/1060501456", "rs": 1060501456 } ], "gnomAD_3": [ { "@id": "http://gnomad.broadinstitute.org/variant/5-13721014-G-A?dataset=gnomad_r3", "id": "5-13721014-G-A", "variant": "5:13721014 G / A" } ], "gnomAD_4": [ { "@id": "http://gnomad.broadinstitute.org/variant/5-13721014-G-A?dataset=gnomad_r4", "id": "5-13721014-G-A", "variant": "5:13721014 G / A" } ] }, "genomicAlleles": [ { "chromosome": "5", "coordinates": [ { "allele": "A", "end": 13721014, "referenceAllele": "G", "start": 13721013 } ], "hgvs": [ "NC_000005.10:g.13721014G>A", "CM000667.2:g.13721014G>A" ], "referenceGenome": "GRCh38", "referenceSequence": "http://reg.genome.network/refseq/RS000053" }, { "chromosome": "5", "coordinates": [ { "allele": "A", "end": 13721123, "referenceAllele": "G", "start": 13721122 } ], "hgvs": [ "NC_000005.9:g.13721123G>A", "CM000667.1:g.13721123G>A" ], "referenceGenome": "GRCh37", "referenceSequence": "http://reg.genome.network/refseq/RS000029" }, { "chromosome": "5", "coordinates": [ { "allele": "A", "end": 13774123, "referenceAllele": "G", "start": 13774122 } ], "hgvs": [ "NC_000005.8:g.13774123G>A" ], "referenceGenome": "NCBI36", "referenceSequence": "http://reg.genome.network/refseq/RS000005" }, { "coordinates": [ { "allele": "T", "end": 228467, "referenceAllele": "C", "start": 228466 } ], "hgvs": [ "NG_013081.1:g.228467C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS002704" }, { "coordinates": [ { "allele": "T", "end": 228467, "referenceAllele": "C", "start": 228466 } ], "hgvs": [ "NG_013081.2:g.228467C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS673632" } ], "transcriptAlleles": [ { "coordinates": [ { "allele": "T", "end": 12515, "referenceAllele": "C", "start": 12514 } ], "gene": "http://reg.genome.network/gene/GN002950", "geneNCBI_id": 1767, "geneSymbol": "DNAH5", "hgvs": [ "ENST00000265104.5:c.12265C>T" ], "proteinEffect": { "hgvs": "ENSP00000265104.4:p.Gln4089Ter", "hgvsWellDefined": "ENSP00000265104.4:p.Gln4089_Lys4624delinsThrMetAlaAsnGlyGlyTrpAlaLeuLeuGlnAsnCysHisLeuGlyLeuAspPheMetAspGluLeuMetAspIleIleIleGluThrGluLeuValHisAspAlaPheArgLeuTrpMetThrThrGluAlaHisLysGlnPheProIleThrLeuLeuGlnMetSerIleLysPheAlaAsnAspProProGlnGlyLeuArgAlaGlyLeuLysArgThrTyrSerGlyValSerGlnAspLeuLeuAspValSerSerGlySerGlnTrpLysProMetLeuTyrAlaValAlaPheLeuHisSerThrValGlnGluArgArgLysPheGlyAlaLeuGlyTrpAsnIleProTyrGluPheAsnGlnAlaAspPheAsnAlaThrValGlnPheIleGlnAsnHisLeuAspAspMetAspValLysLysGlyValSerTrpThrThrIleArgTyrMetIleGlyGluIleGlnTyrGlyGlyArgValThrAspAspTyrAspLysArgLeuLeuAsnThrPheAlaLysValTrpPheSerGluAsnMetPheGlyProAspPheSerPheTyrGlnGlyTyrAsnIleProLysCysSerThrValAspAsnTyrLeuGlnTyrIleGlnSerLeuProAlaTyrAspSerProGluValPheGlyLeuHisProAsnAlaAspIleThrTyrGlnSerLysLeuAlaLysAspValLeuAspThrIleLeuGlyIleGlnProLysAspThrSerGlyGlyGlyAspGluThrArgGluAlaValValAlaArgLeuAlaAspAspMetLeuGluLysLeuProProAspTyrValProPheGluValLysGluArgLeuGlnLysMetGlyProPheGlnProMetAsnIlePheLeuArgGlnGluIleAspArgMetGlnArgValLeuSerLeuValArgSerThrLeuThrGluLeuLysLeuAlaIleAspGlyThrIleIleMetSerGluAsnLeuArgAspAlaLeuAspCysMetPheAspAlaArgIleProAlaTrpTrpLysLysAlaSerTrpIleSerSerThrLeuGlyPheTrpPheThrGluLeuIleGluArgAsnSerGlnPheThrSerTrpValPheAsnGlyArgProHisCysPheTrpMetThrGlyPhePheAsnProGlnGlyPheLeuThrAlaMetArgGlnGluIleThrArgAlaAsnLysGlyTrpAlaLeuAspAsnMetValLeuCysAsnGluValThrLysTrpMetLysAspAspIleSerAlaProProThrGluGlyValTyrValTyrGlyLeuTyrLeuGluGlyAlaGlyTrpAspLysArgAsnMetLysLeuIleGluSerLysProLysValLeuPheGluLeuMetProValIleArgIleTyrAlaGluAsnAsnThrLeuArgAspProArgPheTyrSerCysProIleTyrLysLysProValArgThrAspLeuAsnTyrIleAlaAlaValAspLeuArgThrAlaGlnThrProGluHisTrpValLeuArgGlyValAlaLeuLeuCysAspValLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS742788", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000265104.5:c.12265C>T" }, "RefSeq": { "hgvs": "NM_001369.3:c.12265C>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000265104.4:p.Gln4089Ter" }, "RefSeq": { "hgvs": "NP_001360.1:p.Gln4089Ter" } } } }, { "coordinates": [ { "allele": "T", "end": 12379, "referenceAllele": "C", "start": 12378 } ], "gene": "http://reg.genome.network/gene/GN002950", "geneNCBI_id": 1767, "geneSymbol": "DNAH5", "hgvs": [ "ENST00000681290.1:c.12220C>T" ], "proteinEffect": { "hgvs": "ENSP00000505288.1:p.Gln4074Ter", "hgvsWellDefined": "ENSP00000505288.1:p.Gln4074_Lys4609delinsThrMetAlaAsnGlyGlyTrpAlaLeuLeuGlnAsnCysHisLeuGlyLeuAspPheMetAspGluLeuMetAspIleIleIleGluThrGluLeuValHisAspAlaPheArgLeuTrpMetThrThrGluAlaHisLysGlnPheProIleThrLeuLeuGlnMetSerIleLysPheAlaAsnAspProProGlnGlyLeuArgAlaGlyLeuLysArgThrTyrSerGlyValSerGlnAspLeuLeuAspValSerSerGlySerGlnTrpLysProMetLeuTyrAlaValAlaPheLeuHisSerThrValGlnGluArgArgLysPheGlyAlaLeuGlyTrpAsnIleProTyrGluPheAsnGlnAlaAspPheAsnAlaThrValGlnPheIleGlnAsnHisLeuAspAspMetAspValLysLysGlyValSerTrpThrThrIleArgTyrMetIleGlyGluIleGlnTyrGlyGlyArgValThrAspAspTyrAspLysArgLeuLeuAsnThrPheAlaLysValTrpPheSerGluAsnMetPheGlyProAspPheSerPheTyrGlnGlyTyrAsnIleProLysCysSerThrValAspAsnTyrLeuGlnTyrIleGlnSerLeuProAlaTyrAspSerProGluValPheGlyLeuHisProAsnAlaAspIleThrTyrGlnSerLysLeuAlaLysAspValLeuAspThrIleLeuGlyIleGlnProLysAspThrSerGlyGlyGlyAspGluThrArgGluAlaValValAlaArgLeuAlaAspAspMetLeuGluLysLeuProProAspTyrValProPheGluValLysGluArgLeuGlnLysMetGlyProPheGlnProMetAsnIlePheLeuArgGlnGluIleAspArgMetGlnArgValLeuSerLeuValArgSerThrLeuThrGluLeuLysLeuAlaIleAspGlyThrIleIleMetSerGluAsnLeuArgAspAlaLeuAspCysMetPheAspAlaArgIleProAlaTrpTrpLysLysAlaSerTrpIleSerSerThrLeuGlyPheTrpPheThrGluLeuIleGluArgAsnSerGlnPheThrSerTrpValPheAsnGlyArgProHisCysPheTrpMetThrGlyPhePheAsnProGlnGlyPheLeuThrAlaMetArgGlnGluIleThrArgAlaAsnLysGlyTrpAlaLeuAspAsnMetValLeuCysAsnGluValThrLysTrpMetLysAspAspIleSerAlaProProThrGluGlyValTyrValTyrGlyLeuTyrLeuGluGlyAlaGlyTrpAspLysArgAsnMetLysLeuIleGluSerLysProLysValLeuPheGluLeuMetProValIleArgIleTyrAlaGluAsnAsnThrLeuArgAspProArgPheTyrSerCysProIleTyrLysLysProValArgThrAspLeuAsnTyrIleAlaAlaValAspLeuArgThrAlaGlnThrProGluHisTrpValLeuArgGlyValAlaLeuLeuCysAspValLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS780901" }, { "coordinates": [ { "allele": "T", "end": 12370, "referenceAllele": "C", "start": 12369 } ], "gene": "http://reg.genome.network/gene/GN002950", "geneNCBI_id": 1767, "geneSymbol": "DNAH5", "hgvs": [ "ENST00000265104.4:c.12265C>T" ], "proteinEffect": { "hgvs": "ENSP00000265104.4:p.Gln4089Ter", "hgvsWellDefined": "ENSP00000265104.4:p.Gln4089_Lys4624delinsThrMetAlaAsnGlyGlyTrpAlaLeuLeuGlnAsnCysHisLeuGlyLeuAspPheMetAspGluLeuMetAspIleIleIleGluThrGluLeuValHisAspAlaPheArgLeuTrpMetThrThrGluAlaHisLysGlnPheProIleThrLeuLeuGlnMetSerIleLysPheAlaAsnAspProProGlnGlyLeuArgAlaGlyLeuLysArgThrTyrSerGlyValSerGlnAspLeuLeuAspValSerSerGlySerGlnTrpLysProMetLeuTyrAlaValAlaPheLeuHisSerThrValGlnGluArgArgLysPheGlyAlaLeuGlyTrpAsnIleProTyrGluPheAsnGlnAlaAspPheAsnAlaThrValGlnPheIleGlnAsnHisLeuAspAspMetAspValLysLysGlyValSerTrpThrThrIleArgTyrMetIleGlyGluIleGlnTyrGlyGlyArgValThrAspAspTyrAspLysArgLeuLeuAsnThrPheAlaLysValTrpPheSerGluAsnMetPheGlyProAspPheSerPheTyrGlnGlyTyrAsnIleProLysCysSerThrValAspAsnTyrLeuGlnTyrIleGlnSerLeuProAlaTyrAspSerProGluValPheGlyLeuHisProAsnAlaAspIleThrTyrGlnSerLysLeuAlaLysAspValLeuAspThrIleLeuGlyIleGlnProLysAspThrSerGlyGlyGlyAspGluThrArgGluAlaValValAlaArgLeuAlaAspAspMetLeuGluLysLeuProProAspTyrValProPheGluValLysGluArgLeuGlnLysMetGlyProPheGlnProMetAsnIlePheLeuArgGlnGluIleAspArgMetGlnArgValLeuSerLeuValArgSerThrLeuThrGluLeuLysLeuAlaIleAspGlyThrIleIleMetSerGluAsnLeuArgAspAlaLeuAspCysMetPheAspAlaArgIleProAlaTrpTrpLysLysAlaSerTrpIleSerSerThrLeuGlyPheTrpPheThrGluLeuIleGluArgAsnSerGlnPheThrSerTrpValPheAsnGlyArgProHisCysPheTrpMetThrGlyPhePheAsnProGlnGlyPheLeuThrAlaMetArgGlnGluIleThrArgAlaAsnLysGlyTrpAlaLeuAspAsnMetValLeuCysAsnGluValThrLysTrpMetLysAspAspIleSerAlaProProThrGluGlyValTyrValTyrGlyLeuTyrLeuGluGlyAlaGlyTrpAspLysArgAsnMetLysLeuIleGluSerLysProLysValLeuPheGluLeuMetProValIleArgIleTyrAlaGluAsnAsnThrLeuArgAspProArgPheTyrSerCysProIleTyrLysLysProValArgThrAspLeuAsnTyrIleAlaAlaValAspLeuArgThrAlaGlnThrProGluHisTrpValLeuArgGlyValAlaLeuLeuCysAspValLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS251673" }, { "@id": "http://reg.genome.network/allele/PA645389147", "coordinates": [ { "allele": "T", "end": 12307, "referenceAllele": "C", "start": 12306 } ], "gene": "http://reg.genome.network/gene/GN002950", "geneNCBI_id": 1767, "geneSymbol": "DNAH5", "hgvs": [ "NM_001369.2:c.12265C>T" ], "proteinEffect": { "hgvs": "NP_001360.1:p.Gln4089Ter", "hgvsWellDefined": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS026756" }, { "coordinates": [ { "allele": "T", "end": 12320, "referenceAllele": "C", "start": 12319 } ], "gene": "http://reg.genome.network/gene/GN002950", "geneNCBI_id": 1767, "geneSymbol": "DNAH5", "hgvs": [ "XM_005248262.2:c.12220C>T" ], "proteinEffect": { "hgvs": "XP_005248319.1:p.Gln4074Ter", "hgvsWellDefined": "XP_005248319.1:p.Gln4074_Lys4609delinsThrMetAlaAsnGlyGlyTrpAlaLeuLeuGlnAsnCysHisLeuGlyLeuAspPheMetAspGluLeuMetAspIleIleIleGluThrGluLeuValHisAspAlaPheArgLeuTrpMetThrThrGluAlaHisLysGlnPheProIleThrLeuLeuGlnMetSerIleLysPheAlaAsnAspProProGlnGlyLeuArgAlaGlyLeuLysArgThrTyrSerGlyValSerGlnAspLeuLeuAspValSerSerGlySerGlnTrpLysProMetLeuTyrAlaValAlaPheLeuHisSerThrValGlnGluArgArgLysPheGlyAlaLeuGlyTrpAsnIleProTyrGluPheAsnGlnAlaAspPheAsnAlaThrValGlnPheIleGlnAsnHisLeuAspAspMetAspValLysLysGlyValSerTrpThrThrIleArgTyrMetIleGlyGluIleGlnTyrGlyGlyArgValThrAspAspTyrAspLysArgLeuLeuAsnThrPheAlaLysValTrpPheSerGluAsnMetPheGlyProAspPheSerPheTyrGlnGlyTyrAsnIleProLysCysSerThrValAspAsnTyrLeuGlnTyrIleGlnSerLeuProAlaTyrAspSerProGluValPheGlyLeuHisProAsnAlaAspIleThrTyrGlnSerLysLeuAlaLysAspValLeuAspThrIleLeuGlyIleGlnProLysAspThrSerGlyGlyGlyAspGluThrArgGluAlaValValAlaArgLeuAlaAspAspMetLeuGluLysLeuProProAspTyrValProPheGluValLysGluArgLeuGlnLysMetGlyProPheGlnProMetAsnIlePheLeuArgGlnGluIleAspArgMetGlnArgValLeuSerLeuValArgSerThrLeuThrGluLeuLysLeuAlaIleAspGlyThrIleIleMetSerGluAsnLeuArgAspAlaLeuAspCysMetPheAspAlaArgIleProAlaTrpTrpLysLysAlaSerTrpIleSerSerThrLeuGlyPheTrpPheThrGluLeuIleGluArgAsnSerGlnPheThrSerTrpValPheAsnGlyArgProHisCysPheTrpMetThrGlyPhePheAsnProGlnGlyPheLeuThrAlaMetArgGlnGluIleThrArgAlaAsnLysGlyTrpAlaLeuAspAsnMetValLeuCysAsnGluValThrLysTrpMetLysAspAspIleSerAlaProProThrGluGlyValTyrValTyrGlyLeuTyrLeuGluGlyAlaGlyTrpAspLysArgAsnMetLysLeuIleGluSerLysProLysValLeuPheGluLeuMetProValIleArgIleTyrAlaGluAsnAsnThrLeuArgAspProArgPheTyrSerCysProIleTyrLysLysProValArgThrAspLeuAsnTyrIleAlaAlaValAspLeuArgThrAlaGlnThrProGluHisTrpValLeuArgGlyValAlaLeuLeuCysAspValLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS058370" }, { "coordinates": [ { "allele": "T", "end": 12390, "referenceAllele": "C", "start": 12389 } ], "gene": "http://reg.genome.network/gene/GN002950", "geneNCBI_id": 1767, "geneSymbol": "DNAH5", "hgvs": [ "XM_005248262.3:c.12373C>T" ], "proteinEffect": { "hgvs": "XP_005248319.2:p.Gln4125Ter", "hgvsWellDefined": "XP_005248319.2:p.Gln4125_Lys4660delinsThrMetAlaAsnGlyGlyTrpAlaLeuLeuGlnAsnCysHisLeuGlyLeuAspPheMetAspGluLeuMetAspIleIleIleGluThrGluLeuValHisAspAlaPheArgLeuTrpMetThrThrGluAlaHisLysGlnPheProIleThrLeuLeuGlnMetSerIleLysPheAlaAsnAspProProGlnGlyLeuArgAlaGlyLeuLysArgThrTyrSerGlyValSerGlnAspLeuLeuAspValSerSerGlySerGlnTrpLysProMetLeuTyrAlaValAlaPheLeuHisSerThrValGlnGluArgArgLysPheGlyAlaLeuGlyTrpAsnIleProTyrGluPheAsnGlnAlaAspPheAsnAlaThrValGlnPheIleGlnAsnHisLeuAspAspMetAspValLysLysGlyValSerTrpThrThrIleArgTyrMetIleGlyGluIleGlnTyrGlyGlyArgValThrAspAspTyrAspLysArgLeuLeuAsnThrPheAlaLysValTrpPheSerGluAsnMetPheGlyProAspPheSerPheTyrGlnGlyTyrAsnIleProLysCysSerThrValAspAsnTyrLeuGlnTyrIleGlnSerLeuProAlaTyrAspSerProGluValPheGlyLeuHisProAsnAlaAspIleThrTyrGlnSerLysLeuAlaLysAspValLeuAspThrIleLeuGlyIleGlnProLysAspThrSerGlyGlyGlyAspGluThrArgGluAlaValValAlaArgLeuAlaAspAspMetLeuGluLysLeuProProAspTyrValProPheGluValLysGluArgLeuGlnLysMetGlyProPheGlnProMetAsnIlePheLeuArgGlnGluIleAspArgMetGlnArgValLeuSerLeuValArgSerThrLeuThrGluLeuLysLeuAlaIleAspGlyThrIleIleMetSerGluAsnLeuArgAspAlaLeuAspCysMetPheAspAlaArgIleProAlaTrpTrpLysLysAlaSerTrpIleSerSerThrLeuGlyPheTrpPheThrGluLeuIleGluArgAsnSerGlnPheThrSerTrpValPheAsnGlyArgProHisCysPheTrpMetThrGlyPhePheAsnProGlnGlyPheLeuThrAlaMetArgGlnGluIleThrArgAlaAsnLysGlyTrpAlaLeuAspAsnMetValLeuCysAsnGluValThrLysTrpMetLysAspAspIleSerAlaProProThrGluGlyValTyrValTyrGlyLeuTyrLeuGluGlyAlaGlyTrpAspLysArgAsnMetLysLeuIleGluSerLysProLysValLeuPheGluLeuMetProValIleArgIleTyrAlaGluAsnAsnThrLeuArgAspProArgPheTyrSerCysProIleTyrLysLysProValArgThrAspLeuAsnTyrIleAlaAlaValAspLeuArgThrAlaGlnThrProGluHisTrpValLeuArgGlyValAlaLeuLeuCysAspValLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS533031" }, { "coordinates": [ { "allele": "T", "end": 12390, "referenceAllele": "C", "start": 12389 } ], "gene": "http://reg.genome.network/gene/GN002950", "geneNCBI_id": 1767, "geneSymbol": "DNAH5", "hgvs": [ "XM_017009177.1:c.12373C>T" ], "proteinEffect": { "hgvs": "XP_016864666.1:p.Gln4125Ter", "hgvsWellDefined": "XP_016864666.1:p.Gln4125_Lys4520delinsThrMetAlaAsnGlyGlyTrpAlaLeuLeuGlnAsnCysHisLeuGlyLeuAspPheMetAspGluLeuMetAspIleIleIleGluThrGluLeuValHisAspAlaPheArgLeuTrpMetThrThrGluAlaHisLysGlnPheProIleThrLeuLeuGlnMetSerIleLysPheAlaAsnAspProProGlnGlyLeuArgAlaGlyLeuLysArgThrTyrSerGlyValSerGlnAspLeuLeuAspValSerSerGlySerGlnTrpLysProMetLeuTyrAlaValAlaPheLeuHisSerThrValGlnGluArgArgLysPheGlyAlaLeuGlyTrpAsnIleProTyrGluPheAsnGlnAlaAspPheAsnAlaThrValGlnPheIleGlnAsnHisLeuAspAspMetAspValLysLysValLysGluArgLeuGlnLysMetGlyProPheGlnProMetAsnIlePheLeuArgGlnGluIleAspArgMetGlnArgValLeuSerLeuValArgSerThrLeuThrGluLeuLysLeuAlaIleAspGlyThrIleIleMetSerGluAsnLeuArgAspAlaLeuAspCysMetPheAspAlaArgIleProAlaTrpTrpLysLysAlaSerTrpIleSerSerThrLeuGlyPheTrpPheThrGluLeuIleGluArgAsnSerGlnPheThrSerTrpValPheAsnGlyArgProHisCysPheTrpMetThrGlyPhePheAsnProGlnGlyPheLeuThrAlaMetArgGlnGluIleThrArgAlaAsnLysGlyTrpAlaLeuAspAsnMetValLeuCysAsnGluValThrLysTrpMetLysAspAspIleSerAlaProProThrGluGlyValTyrValTyrGlyLeuTyrLeuGluGlyAlaGlyTrpAspLysArgAsnMetLysLeuIleGluSerLysProLysValLeuPheGluLeuMetProValIleArgIleTyrAlaGluAsnAsnThrLeuArgAspProArgPheTyrSerCysProIleTyrLysLysProValArgThrAspLeuAsnTyrIleAlaAlaValAspLeuArgThrAlaGlnThrProGluHisTrpValLeuArgGlyValAlaLeuLeuCysAspValLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS563535" }, { "coordinates": [ { "allele": "T", "end": 13193, "referenceAllele": "C", "start": 13192 } ], "gene": "http://reg.genome.network/gene/GN002950", "geneNCBI_id": 1767, "geneSymbol": "DNAH5", "hgvs": [ "XM_017009178.1:c.11278C>T" ], "proteinEffect": { "hgvs": "XP_016864667.1:p.Gln3760Ter", "hgvsWellDefined": "XP_016864667.1:p.Gln3760_Lys4295delinsThrMetAlaAsnGlyGlyTrpAlaLeuLeuGlnAsnCysHisLeuGlyLeuAspPheMetAspGluLeuMetAspIleIleIleGluThrGluLeuValHisAspAlaPheArgLeuTrpMetThrThrGluAlaHisLysGlnPheProIleThrLeuLeuGlnMetSerIleLysPheAlaAsnAspProProGlnGlyLeuArgAlaGlyLeuLysArgThrTyrSerGlyValSerGlnAspLeuLeuAspValSerSerGlySerGlnTrpLysProMetLeuTyrAlaValAlaPheLeuHisSerThrValGlnGluArgArgLysPheGlyAlaLeuGlyTrpAsnIleProTyrGluPheAsnGlnAlaAspPheAsnAlaThrValGlnPheIleGlnAsnHisLeuAspAspMetAspValLysLysGlyValSerTrpThrThrIleArgTyrMetIleGlyGluIleGlnTyrGlyGlyArgValThrAspAspTyrAspLysArgLeuLeuAsnThrPheAlaLysValTrpPheSerGluAsnMetPheGlyProAspPheSerPheTyrGlnGlyTyrAsnIleProLysCysSerThrValAspAsnTyrLeuGlnTyrIleGlnSerLeuProAlaTyrAspSerProGluValPheGlyLeuHisProAsnAlaAspIleThrTyrGlnSerLysLeuAlaLysAspValLeuAspThrIleLeuGlyIleGlnProLysAspThrSerGlyGlyGlyAspGluThrArgGluAlaValValAlaArgLeuAlaAspAspMetLeuGluLysLeuProProAspTyrValProPheGluValLysGluArgLeuGlnLysMetGlyProPheGlnProMetAsnIlePheLeuArgGlnGluIleAspArgMetGlnArgValLeuSerLeuValArgSerThrLeuThrGluLeuLysLeuAlaIleAspGlyThrIleIleMetSerGluAsnLeuArgAspAlaLeuAspCysMetPheAspAlaArgIleProAlaTrpTrpLysLysAlaSerTrpIleSerSerThrLeuGlyPheTrpPheThrGluLeuIleGluArgAsnSerGlnPheThrSerTrpValPheAsnGlyArgProHisCysPheTrpMetThrGlyPhePheAsnProGlnGlyPheLeuThrAlaMetArgGlnGluIleThrArgAlaAsnLysGlyTrpAlaLeuAspAsnMetValLeuCysAsnGluValThrLysTrpMetLysAspAspIleSerAlaProProThrGluGlyValTyrValTyrGlyLeuTyrLeuGluGlyAlaGlyTrpAspLysArgAsnMetLysLeuIleGluSerLysProLysValLeuPheGluLeuMetProValIleArgIleTyrAlaGluAsnAsnThrLeuArgAspProArgPheTyrSerCysProIleTyrLysLysProValArgThrAspLeuAsnTyrIleAlaAlaValAspLeuArgThrAlaGlnThrProGluHisTrpValLeuArgGlyValAlaLeuLeuCysAspValLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS563536" }, { "coordinates": [ { "allele": "T", "end": 11416, "referenceAllele": "C", "start": 11415 } ], "gene": "http://reg.genome.network/gene/GN002950", "geneNCBI_id": 1767, "geneSymbol": "DNAH5", "hgvs": [ "XM_017009179.2:c.11278C>T" ], "proteinEffect": { "hgvs": "XP_016864668.1:p.Gln3760Ter", "hgvsWellDefined": "XP_016864668.1:p.Gln3760_Lys4295delinsThrMetAlaAsnGlyGlyTrpAlaLeuLeuGlnAsnCysHisLeuGlyLeuAspPheMetAspGluLeuMetAspIleIleIleGluThrGluLeuValHisAspAlaPheArgLeuTrpMetThrThrGluAlaHisLysGlnPheProIleThrLeuLeuGlnMetSerIleLysPheAlaAsnAspProProGlnGlyLeuArgAlaGlyLeuLysArgThrTyrSerGlyValSerGlnAspLeuLeuAspValSerSerGlySerGlnTrpLysProMetLeuTyrAlaValAlaPheLeuHisSerThrValGlnGluArgArgLysPheGlyAlaLeuGlyTrpAsnIleProTyrGluPheAsnGlnAlaAspPheAsnAlaThrValGlnPheIleGlnAsnHisLeuAspAspMetAspValLysLysGlyValSerTrpThrThrIleArgTyrMetIleGlyGluIleGlnTyrGlyGlyArgValThrAspAspTyrAspLysArgLeuLeuAsnThrPheAlaLysValTrpPheSerGluAsnMetPheGlyProAspPheSerPheTyrGlnGlyTyrAsnIleProLysCysSerThrValAspAsnTyrLeuGlnTyrIleGlnSerLeuProAlaTyrAspSerProGluValPheGlyLeuHisProAsnAlaAspIleThrTyrGlnSerLysLeuAlaLysAspValLeuAspThrIleLeuGlyIleGlnProLysAspThrSerGlyGlyGlyAspGluThrArgGluAlaValValAlaArgLeuAlaAspAspMetLeuGluLysLeuProProAspTyrValProPheGluValLysGluArgLeuGlnLysMetGlyProPheGlnProMetAsnIlePheLeuArgGlnGluIleAspArgMetGlnArgValLeuSerLeuValArgSerThrLeuThrGluLeuLysLeuAlaIleAspGlyThrIleIleMetSerGluAsnLeuArgAspAlaLeuAspCysMetPheAspAlaArgIleProAlaTrpTrpLysLysAlaSerTrpIleSerSerThrLeuGlyPheTrpPheThrGluLeuIleGluArgAsnSerGlnPheThrSerTrpValPheAsnGlyArgProHisCysPheTrpMetThrGlyPhePheAsnProGlnGlyPheLeuThrAlaMetArgGlnGluIleThrArgAlaAsnLysGlyTrpAlaLeuAspAsnMetValLeuCysAsnGluValThrLysTrpMetLysAspAspIleSerAlaProProThrGluGlyValTyrValTyrGlyLeuTyrLeuGluGlyAlaGlyTrpAspLysArgAsnMetLysLeuIleGluSerLysProLysValLeuPheGluLeuMetProValIleArgIleTyrAlaGluAsnAsnThrLeuArgAspProArgPheTyrSerCysProIleTyrLysLysProValArgThrAspLeuAsnTyrIleAlaAlaValAspLeuArgThrAlaGlnThrProGluHisTrpValLeuArgGlyValAlaLeuLeuCysAspValLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS563537" }, { "coordinates": [ { "allele": "T", "end": 12390, "referenceAllele": "C", "start": 12389 } ], "gene": "http://reg.genome.network/gene/GN002950", "geneNCBI_id": 1767, "geneSymbol": "DNAH5", "hgvs": [ "XM_017009180.1:c.12373C>T" ], "proteinEffect": { "hgvs": "XP_016864669.1:p.Gln4125Ter", "hgvsWellDefined": "XP_016864669.1:p.Gln4125_Tyr4272delinsThrMetAlaAsnGlyGlyTrpAlaLeuLeuGlnAsnCysHisLeuGlyLeuAspPheMetAspGluLeuMetAspIleIleIleGluThrGluLeuValHisAspAlaPheArgLeuTrpMetThrThrGluAlaHisLysGlnPheProIleThrLeuLeuGlnMetSerIleLysPheAlaAsnAspProProGlnGlyLeuArgAlaGlyLeuLysArgThrTyrSerGlyValSerGlnAspLeuLeuAspValSerSerGlySerGlnTrpLysProMetLeuTyrAlaValAlaPheLeuHisSerThrValGlnGluArgArgLysPheGlyAlaLeuGlyTrpAsnIleProTyrGluPheAsnGlnAlaAspPheAsnAlaThrValGlnPheIleGlnAsnHisLeuAspAspMetAspValLysLysTyrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS563538" }, { "coordinates": [ { "allele": "T", "end": 7686, "referenceAllele": "C", "start": 7685 } ], "gene": "http://reg.genome.network/gene/GN002950", "geneNCBI_id": 1767, "geneSymbol": "DNAH5", "hgvs": [ "XM_017009185.1:c.7462C>T" ], "proteinEffect": { "hgvs": "XP_016864674.1:p.Gln2488Ter", "hgvsWellDefined": "XP_016864674.1:p.Gln2488_Lys3023delinsThrMetAlaAsnGlyGlyTrpAlaLeuLeuGlnAsnCysHisLeuGlyLeuAspPheMetAspGluLeuMetAspIleIleIleGluThrGluLeuValHisAspAlaPheArgLeuTrpMetThrThrGluAlaHisLysGlnPheProIleThrLeuLeuGlnMetSerIleLysPheAlaAsnAspProProGlnGlyLeuArgAlaGlyLeuLysArgThrTyrSerGlyValSerGlnAspLeuLeuAspValSerSerGlySerGlnTrpLysProMetLeuTyrAlaValAlaPheLeuHisSerThrValGlnGluArgArgLysPheGlyAlaLeuGlyTrpAsnIleProTyrGluPheAsnGlnAlaAspPheAsnAlaThrValGlnPheIleGlnAsnHisLeuAspAspMetAspValLysLysGlyValSerTrpThrThrIleArgTyrMetIleGlyGluIleGlnTyrGlyGlyArgValThrAspAspTyrAspLysArgLeuLeuAsnThrPheAlaLysValTrpPheSerGluAsnMetPheGlyProAspPheSerPheTyrGlnGlyTyrAsnIleProLysCysSerThrValAspAsnTyrLeuGlnTyrIleGlnSerLeuProAlaTyrAspSerProGluValPheGlyLeuHisProAsnAlaAspIleThrTyrGlnSerLysLeuAlaLysAspValLeuAspThrIleLeuGlyIleGlnProLysAspThrSerGlyGlyGlyAspGluThrArgGluAlaValValAlaArgLeuAlaAspAspMetLeuGluLysLeuProProAspTyrValProPheGluValLysGluArgLeuGlnLysMetGlyProPheGlnProMetAsnIlePheLeuArgGlnGluIleAspArgMetGlnArgValLeuSerLeuValArgSerThrLeuThrGluLeuLysLeuAlaIleAspGlyThrIleIleMetSerGluAsnLeuArgAspAlaLeuAspCysMetPheAspAlaArgIleProAlaTrpTrpLysLysAlaSerTrpIleSerSerThrLeuGlyPheTrpPheThrGluLeuIleGluArgAsnSerGlnPheThrSerTrpValPheAsnGlyArgProHisCysPheTrpMetThrGlyPhePheAsnProGlnGlyPheLeuThrAlaMetArgGlnGluIleThrArgAlaAsnLysGlyTrpAlaLeuAspAsnMetValLeuCysAsnGluValThrLysTrpMetLysAspAspIleSerAlaProProThrGluGlyValTyrValTyrGlyLeuTyrLeuGluGlyAlaGlyTrpAspLysArgAsnMetLysLeuIleGluSerLysProLysValLeuPheGluLeuMetProValIleArgIleTyrAlaGluAsnAsnThrLeuArgAspProArgPheTyrSerCysProIleTyrLysLysProValArgThrAspLeuAsnTyrIleAlaAlaValAspLeuArgThrAlaGlnThrProGluHisTrpValLeuArgGlyValAlaLeuLeuCysAspValLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS563543" }, { "coordinates": [ { "allele": "T", "end": 7102, "referenceAllele": "C", "start": 7101 } ], "gene": "http://reg.genome.network/gene/GN002950", "geneNCBI_id": 1767, "geneSymbol": "DNAH5", "hgvs": [ "XM_017009186.1:c.7015C>T" ], "proteinEffect": { "hgvs": "XP_016864675.1:p.Gln2339Ter", "hgvsWellDefined": "XP_016864675.1:p.Gln2339_Lys2874delinsThrMetAlaAsnGlyGlyTrpAlaLeuLeuGlnAsnCysHisLeuGlyLeuAspPheMetAspGluLeuMetAspIleIleIleGluThrGluLeuValHisAspAlaPheArgLeuTrpMetThrThrGluAlaHisLysGlnPheProIleThrLeuLeuGlnMetSerIleLysPheAlaAsnAspProProGlnGlyLeuArgAlaGlyLeuLysArgThrTyrSerGlyValSerGlnAspLeuLeuAspValSerSerGlySerGlnTrpLysProMetLeuTyrAlaValAlaPheLeuHisSerThrValGlnGluArgArgLysPheGlyAlaLeuGlyTrpAsnIleProTyrGluPheAsnGlnAlaAspPheAsnAlaThrValGlnPheIleGlnAsnHisLeuAspAspMetAspValLysLysGlyValSerTrpThrThrIleArgTyrMetIleGlyGluIleGlnTyrGlyGlyArgValThrAspAspTyrAspLysArgLeuLeuAsnThrPheAlaLysValTrpPheSerGluAsnMetPheGlyProAspPheSerPheTyrGlnGlyTyrAsnIleProLysCysSerThrValAspAsnTyrLeuGlnTyrIleGlnSerLeuProAlaTyrAspSerProGluValPheGlyLeuHisProAsnAlaAspIleThrTyrGlnSerLysLeuAlaLysAspValLeuAspThrIleLeuGlyIleGlnProLysAspThrSerGlyGlyGlyAspGluThrArgGluAlaValValAlaArgLeuAlaAspAspMetLeuGluLysLeuProProAspTyrValProPheGluValLysGluArgLeuGlnLysMetGlyProPheGlnProMetAsnIlePheLeuArgGlnGluIleAspArgMetGlnArgValLeuSerLeuValArgSerThrLeuThrGluLeuLysLeuAlaIleAspGlyThrIleIleMetSerGluAsnLeuArgAspAlaLeuAspCysMetPheAspAlaArgIleProAlaTrpTrpLysLysAlaSerTrpIleSerSerThrLeuGlyPheTrpPheThrGluLeuIleGluArgAsnSerGlnPheThrSerTrpValPheAsnGlyArgProHisCysPheTrpMetThrGlyPhePheAsnProGlnGlyPheLeuThrAlaMetArgGlnGluIleThrArgAlaAsnLysGlyTrpAlaLeuAspAsnMetValLeuCysAsnGluValThrLysTrpMetLysAspAspIleSerAlaProProThrGluGlyValTyrValTyrGlyLeuTyrLeuGluGlyAlaGlyTrpAspLysArgAsnMetLysLeuIleGluSerLysProLysValLeuPheGluLeuMetProValIleArgIleTyrAlaGluAsnAsnThrLeuArgAspProArgPheTyrSerCysProIleTyrLysLysProValArgThrAspLeuAsnTyrIleAlaAlaValAspLeuArgThrAlaGlnThrProGluHisTrpValLeuArgGlyValAlaLeuLeuCysAspValLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS563544" }, { "coordinates": [ { "allele": "T", "end": 7918, "referenceAllele": "C", "start": 7917 } ], "gene": "http://reg.genome.network/gene/GN002950", "geneNCBI_id": 1767, "geneSymbol": "DNAH5", "hgvs": [ "XM_017009188.1:c.6352C>T" ], "proteinEffect": { "hgvs": "XP_016864677.1:p.Gln2118Ter", "hgvsWellDefined": "XP_016864677.1:p.Gln2118_Lys2653delinsThrMetAlaAsnGlyGlyTrpAlaLeuLeuGlnAsnCysHisLeuGlyLeuAspPheMetAspGluLeuMetAspIleIleIleGluThrGluLeuValHisAspAlaPheArgLeuTrpMetThrThrGluAlaHisLysGlnPheProIleThrLeuLeuGlnMetSerIleLysPheAlaAsnAspProProGlnGlyLeuArgAlaGlyLeuLysArgThrTyrSerGlyValSerGlnAspLeuLeuAspValSerSerGlySerGlnTrpLysProMetLeuTyrAlaValAlaPheLeuHisSerThrValGlnGluArgArgLysPheGlyAlaLeuGlyTrpAsnIleProTyrGluPheAsnGlnAlaAspPheAsnAlaThrValGlnPheIleGlnAsnHisLeuAspAspMetAspValLysLysGlyValSerTrpThrThrIleArgTyrMetIleGlyGluIleGlnTyrGlyGlyArgValThrAspAspTyrAspLysArgLeuLeuAsnThrPheAlaLysValTrpPheSerGluAsnMetPheGlyProAspPheSerPheTyrGlnGlyTyrAsnIleProLysCysSerThrValAspAsnTyrLeuGlnTyrIleGlnSerLeuProAlaTyrAspSerProGluValPheGlyLeuHisProAsnAlaAspIleThrTyrGlnSerLysLeuAlaLysAspValLeuAspThrIleLeuGlyIleGlnProLysAspThrSerGlyGlyGlyAspGluThrArgGluAlaValValAlaArgLeuAlaAspAspMetLeuGluLysLeuProProAspTyrValProPheGluValLysGluArgLeuGlnLysMetGlyProPheGlnProMetAsnIlePheLeuArgGlnGluIleAspArgMetGlnArgValLeuSerLeuValArgSerThrLeuThrGluLeuLysLeuAlaIleAspGlyThrIleIleMetSerGluAsnLeuArgAspAlaLeuAspCysMetPheAspAlaArgIleProAlaTrpTrpLysLysAlaSerTrpIleSerSerThrLeuGlyPheTrpPheThrGluLeuIleGluArgAsnSerGlnPheThrSerTrpValPheAsnGlyArgProHisCysPheTrpMetThrGlyPhePheAsnProGlnGlyPheLeuThrAlaMetArgGlnGluIleThrArgAlaAsnLysGlyTrpAlaLeuAspAsnMetValLeuCysAsnGluValThrLysTrpMetLysAspAspIleSerAlaProProThrGluGlyValTyrValTyrGlyLeuTyrLeuGluGlyAlaGlyTrpAspLysArgAsnMetLysLeuIleGluSerLysProLysValLeuPheGluLeuMetProValIleArgIleTyrAlaGluAsnAsnThrLeuArgAspProArgPheTyrSerCysProIleTyrLysLysProValArgThrAspLeuAsnTyrIleAlaAlaValAspLeuArgThrAlaGlnThrProGluHisTrpValLeuArgGlyValAlaLeuLeuCysAspValLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS563546" }, { "coordinates": [ { "allele": "T", "end": 15063, "referenceAllele": "C", "start": 15062 } ], "gene": "http://reg.genome.network/gene/GN002950", "geneNCBI_id": 1767, "geneSymbol": "DNAH5", "hgvs": [ "XM_024454388.1:c.11278C>T" ], "proteinEffect": { "hgvs": "XP_024310156.1:p.Gln3760Ter", "hgvsWellDefined": "XP_024310156.1:p.Gln3760_Lys4295delinsThrMetAlaAsnGlyGlyTrpAlaLeuLeuGlnAsnCysHisLeuGlyLeuAspPheMetAspGluLeuMetAspIleIleIleGluThrGluLeuValHisAspAlaPheArgLeuTrpMetThrThrGluAlaHisLysGlnPheProIleThrLeuLeuGlnMetSerIleLysPheAlaAsnAspProProGlnGlyLeuArgAlaGlyLeuLysArgThrTyrSerGlyValSerGlnAspLeuLeuAspValSerSerGlySerGlnTrpLysProMetLeuTyrAlaValAlaPheLeuHisSerThrValGlnGluArgArgLysPheGlyAlaLeuGlyTrpAsnIleProTyrGluPheAsnGlnAlaAspPheAsnAlaThrValGlnPheIleGlnAsnHisLeuAspAspMetAspValLysLysGlyValSerTrpThrThrIleArgTyrMetIleGlyGluIleGlnTyrGlyGlyArgValThrAspAspTyrAspLysArgLeuLeuAsnThrPheAlaLysValTrpPheSerGluAsnMetPheGlyProAspPheSerPheTyrGlnGlyTyrAsnIleProLysCysSerThrValAspAsnTyrLeuGlnTyrIleGlnSerLeuProAlaTyrAspSerProGluValPheGlyLeuHisProAsnAlaAspIleThrTyrGlnSerLysLeuAlaLysAspValLeuAspThrIleLeuGlyIleGlnProLysAspThrSerGlyGlyGlyAspGluThrArgGluAlaValValAlaArgLeuAlaAspAspMetLeuGluLysLeuProProAspTyrValProPheGluValLysGluArgLeuGlnLysMetGlyProPheGlnProMetAsnIlePheLeuArgGlnGluIleAspArgMetGlnArgValLeuSerLeuValArgSerThrLeuThrGluLeuLysLeuAlaIleAspGlyThrIleIleMetSerGluAsnLeuArgAspAlaLeuAspCysMetPheAspAlaArgIleProAlaTrpTrpLysLysAlaSerTrpIleSerSerThrLeuGlyPheTrpPheThrGluLeuIleGluArgAsnSerGlnPheThrSerTrpValPheAsnGlyArgProHisCysPheTrpMetThrGlyPhePheAsnProGlnGlyPheLeuThrAlaMetArgGlnGluIleThrArgAlaAsnLysGlyTrpAlaLeuAspAsnMetValLeuCysAsnGluValThrLysTrpMetLysAspAspIleSerAlaProProThrGluGlyValTyrValTyrGlyLeuTyrLeuGluGlyAlaGlyTrpAspLysArgAsnMetLysLeuIleGluSerLysProLysValLeuPheGluLeuMetProValIleArgIleTyrAlaGluAsnAsnThrLeuArgAspProArgPheTyrSerCysProIleTyrLysLysProValArgThrAspLeuAsnTyrIleAlaAlaValAspLeuArgThrAlaGlnThrProGluHisTrpValLeuArgGlyValAlaLeuLeuCysAspValLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS587750" }, { "coordinates": [ { "allele": "T", "end": 13705, "referenceAllele": "C", "start": 13704 } ], "gene": "http://reg.genome.network/gene/GN002950", "geneNCBI_id": 1767, "geneSymbol": "DNAH5", "hgvs": [ "XM_024454389.1:c.10867C>T" ], "proteinEffect": { "hgvs": "XP_024310157.1:p.Gln3623Ter", "hgvsWellDefined": "XP_024310157.1:p.Gln3623_Lys4158delinsThrMetAlaAsnGlyGlyTrpAlaLeuLeuGlnAsnCysHisLeuGlyLeuAspPheMetAspGluLeuMetAspIleIleIleGluThrGluLeuValHisAspAlaPheArgLeuTrpMetThrThrGluAlaHisLysGlnPheProIleThrLeuLeuGlnMetSerIleLysPheAlaAsnAspProProGlnGlyLeuArgAlaGlyLeuLysArgThrTyrSerGlyValSerGlnAspLeuLeuAspValSerSerGlySerGlnTrpLysProMetLeuTyrAlaValAlaPheLeuHisSerThrValGlnGluArgArgLysPheGlyAlaLeuGlyTrpAsnIleProTyrGluPheAsnGlnAlaAspPheAsnAlaThrValGlnPheIleGlnAsnHisLeuAspAspMetAspValLysLysGlyValSerTrpThrThrIleArgTyrMetIleGlyGluIleGlnTyrGlyGlyArgValThrAspAspTyrAspLysArgLeuLeuAsnThrPheAlaLysValTrpPheSerGluAsnMetPheGlyProAspPheSerPheTyrGlnGlyTyrAsnIleProLysCysSerThrValAspAsnTyrLeuGlnTyrIleGlnSerLeuProAlaTyrAspSerProGluValPheGlyLeuHisProAsnAlaAspIleThrTyrGlnSerLysLeuAlaLysAspValLeuAspThrIleLeuGlyIleGlnProLysAspThrSerGlyGlyGlyAspGluThrArgGluAlaValValAlaArgLeuAlaAspAspMetLeuGluLysLeuProProAspTyrValProPheGluValLysGluArgLeuGlnLysMetGlyProPheGlnProMetAsnIlePheLeuArgGlnGluIleAspArgMetGlnArgValLeuSerLeuValArgSerThrLeuThrGluLeuLysLeuAlaIleAspGlyThrIleIleMetSerGluAsnLeuArgAspAlaLeuAspCysMetPheAspAlaArgIleProAlaTrpTrpLysLysAlaSerTrpIleSerSerThrLeuGlyPheTrpPheThrGluLeuIleGluArgAsnSerGlnPheThrSerTrpValPheAsnGlyArgProHisCysPheTrpMetThrGlyPhePheAsnProGlnGlyPheLeuThrAlaMetArgGlnGluIleThrArgAlaAsnLysGlyTrpAlaLeuAspAsnMetValLeuCysAsnGluValThrLysTrpMetLysAspAspIleSerAlaProProThrGluGlyValTyrValTyrGlyLeuTyrLeuGluGlyAlaGlyTrpAspLysArgAsnMetLysLeuIleGluSerLysProLysValLeuPheGluLeuMetProValIleArgIleTyrAlaGluAsnAsnThrLeuArgAspProArgPheTyrSerCysProIleTyrLysLysProValArgThrAspLeuAsnTyrIleAlaAlaValAspLeuArgThrAlaGlnThrProGluHisTrpValLeuArgGlyValAlaLeuLeuCysAspValLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS587751" }, { "@id": "http://reg.genome.network/allele/PA645389147", "coordinates": [ { "allele": "T", "end": 12515, "referenceAllele": "C", "start": 12514 } ], "gene": "http://reg.genome.network/gene/GN002950", "geneNCBI_id": 1767, "geneSymbol": "DNAH5", "hgvs": [ "NM_001369.3:c.12265C>T" ], "proteinEffect": { "hgvs": "NP_001360.1:p.Gln4089Ter", "hgvsWellDefined": "NP_001360.1:p.Gln4089_Lys4624delinsThrMetAlaAsnGlyGlyTrpAlaLeuLeuGlnAsnCysHisLeuGlyLeuAspPheMetAspGluLeuMetAspIleIleIleGluThrGluLeuValHisAspAlaPheArgLeuTrpMetThrThrGluAlaHisLysGlnPheProIleThrLeuLeuGlnMetSerIleLysPheAlaAsnAspProProGlnGlyLeuArgAlaGlyLeuLysArgThrTyrSerGlyValSerGlnAspLeuLeuAspValSerSerGlySerGlnTrpLysProMetLeuTyrAlaValAlaPheLeuHisSerThrValGlnGluArgArgLysPheGlyAlaLeuGlyTrpAsnIleProTyrGluPheAsnGlnAlaAspPheAsnAlaThrValGlnPheIleGlnAsnHisLeuAspAspMetAspValLysLysGlyValSerTrpThrThrIleArgTyrMetIleGlyGluIleGlnTyrGlyGlyArgValThrAspAspTyrAspLysArgLeuLeuAsnThrPheAlaLysValTrpPheSerGluAsnMetPheGlyProAspPheSerPheTyrGlnGlyTyrAsnIleProLysCysSerThrValAspAsnTyrLeuGlnTyrIleGlnSerLeuProAlaTyrAspSerProGluValPheGlyLeuHisProAsnAlaAspIleThrTyrGlnSerLysLeuAlaLysAspValLeuAspThrIleLeuGlyIleGlnProLysAspThrSerGlyGlyGlyAspGluThrArgGluAlaValValAlaArgLeuAlaAspAspMetLeuGluLysLeuProProAspTyrValProPheGluValLysGluArgLeuGlnLysMetGlyProPheGlnProMetAsnIlePheLeuArgGlnGluIleAspArgMetGlnArgValLeuSerLeuValArgSerThrLeuThrGluLeuLysLeuAlaIleAspGlyThrIleIleMetSerGluAsnLeuArgAspAlaLeuAspCysMetPheAspAlaArgIleProAlaTrpTrpLysLysAlaSerTrpIleSerSerThrLeuGlyPheTrpPheThrGluLeuIleGluArgAsnSerGlnPheThrSerTrpValPheAsnGlyArgProHisCysPheTrpMetThrGlyPhePheAsnProGlnGlyPheLeuThrAlaMetArgGlnGluIleThrArgAlaAsnLysGlyTrpAlaLeuAspAsnMetValLeuCysAsnGluValThrLysTrpMetLysAspAspIleSerAlaProProThrGluGlyValTyrValTyrGlyLeuTyrLeuGluGlyAlaGlyTrpAspLysArgAsnMetLysLeuIleGluSerLysProLysValLeuPheGluLeuMetProValIleArgIleTyrAlaGluAsnAsnThrLeuArgAspProArgPheTyrSerCysProIleTyrLysLysProValArgThrAspLeuAsnTyrIleAlaAlaValAspLeuArgThrAlaGlnThrProGluHisTrpValLeuArgGlyValAlaLeuLeuCysAspValLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS721135", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000265104.5:c.12265C>T" }, "RefSeq": { "hgvs": "NM_001369.3:c.12265C>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000265104.4:p.Gln4089Ter" }, "RefSeq": { "hgvs": "NP_001360.1:p.Gln4089Ter" } } } } ], "type": "nucleotide" }