{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA356115360", "communityStandardTitle": [ "NM_173660.5(DOK7):c.674C>A (p.Ser225Ter)" ], "externalRecords": { "ClinVarAlleles": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=3105567[alleleid]", "alleleId": 3105567, "preferredName": "NM_173660.5(DOK7):c.674C>A (p.Ser225Ter)" } ], "ClinVarVariations": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/2947094", "RCV": [ "RCV003801284" ], "variationId": 2947094 } ], "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chr4:g.3491425C>A?assembly=hg19", "id": "chr4:g.3491425C>A" } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chr4:g.3489698C>A?assembly=hg38", "id": "chr4:g.3489698C>A" } ], "dbSNP": [ { "@id": "http://www.ncbi.nlm.nih.gov/snp/769699131", "rs": 769699131 } ], "gnomAD_4": [ { "@id": "http://gnomad.broadinstitute.org/variant/4-3489698-C-A?dataset=gnomad_r4", "id": "4-3489698-C-A", "variant": "4:3489698 C / A" } ] }, "genomicAlleles": [ { "chromosome": "4", "coordinates": [ { "allele": "A", "end": 3489698, "referenceAllele": "C", "start": 3489697 } ], "hgvs": [ "NC_000004.12:g.3489698C>A", "CM000666.2:g.3489698C>A" ], "referenceGenome": "GRCh38", "referenceSequence": "http://reg.genome.network/refseq/RS000052" }, { "chromosome": "4", "coordinates": [ { "allele": "A", "end": 3491425, "referenceAllele": "C", "start": 3491424 } ], "hgvs": [ "NC_000004.11:g.3491425C>A", "CM000666.1:g.3491425C>A" ], "referenceGenome": "GRCh37", "referenceSequence": "http://reg.genome.network/refseq/RS000028" }, { "chromosome": "4", "coordinates": [ { "allele": "A", "end": 3461223, "referenceAllele": "C", "start": 3461222 } ], "hgvs": [ "NC_000004.10:g.3461223C>A" ], "referenceGenome": "NCBI36", "referenceSequence": "http://reg.genome.network/refseq/RS000004" }, { "coordinates": [ { "allele": "A", "end": 31393, "referenceAllele": "C", "start": 31392 } ], "hgvs": [ "NG_013072.2:g.31393C>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS002701" } ], "transcriptAlleles": [ { "coordinates": [ { "allele": "A", "end": 744, "referenceAllele": "C", "start": 743 } ], "gene": "http://reg.genome.network/gene/GN026594", "geneNCBI_id": 285489, "geneSymbol": "DOK7", "hgvs": [ "ENST00000340083.6:c.674C>A" ], "proteinEffect": { "hgvs": "ENSP00000344432.5:p.Ser225Ter", "hgvsWellDefined": "ENSP00000344432.5:p.Ser225_Pro504delinsThrValGluGluArgValAlaGlnGluAlaLeuGluThrLeuGlnLeuGluLysArgLeuSerLeuLeuSerHisAlaGlyArgProGlySerGlyGlyAspAspArgSerLeuSerSerSerSerSerGluAlaSerHisLeuAspValSerAlaSerSerArgLeuThrAlaTrpProGluGlnSerSerSerSerAlaSerThrSerGlnGluGlyProArgProAlaAlaAlaGlnAlaAlaGlyGluAlaMetValGlyAlaSerArgProProProLysProLeuArgProArgGlnLeuGlnGluValGlyArgGlnSerSerSerAspSerGlyIleAlaThrGlySerHisSerSerTyrSerSerSerLeuSerSerTyrAlaGlySerSerLeuAspValTrpArgAlaThrAspGluLeuGlySerLeuLeuSerLeuProAlaAlaGlyAlaProGluProSerLeuCysThrCysLeuProGlyThrValGluTyrGlnValProThrSerLeuArgAlaHisTyrAspThrProArgSerLeuCysLeuAlaProArgAspHisSerProProSerGlnGlySerProGlyAsnSerAlaAlaArgAspSerGlyGlyGlnThrSerAlaGlyCysProSerGlyTrpLeuGlyThrArgArgArgGlyLeuValMetGluAlaProGlnGlySerGluAlaThrLeuProGlyProAlaProGlyGluProTrpGluAlaGlyGlyProHisAlaGlyProProProAlaPhePheSerAlaCysProValCysGlyGlyLeuLysValAsnProProProTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS747871", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000340083.6:c.674C>A" }, "RefSeq": { "hgvs": "NM_173660.5:c.674C>A" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000344432.5:p.Ser225Ter" }, "RefSeq": { "hgvs": "NP_775931.3:p.Ser225Ter" } } } }, { "coordinates": [ { "allele": "A", "end": 307, "referenceAllele": "C", "start": 306 } ], "gene": "http://reg.genome.network/gene/GN026594", "geneNCBI_id": 285489, "geneSymbol": "DOK7", "hgvs": [ "ENST00000643608.1:c.242C>A" ], "proteinEffect": { "hgvs": "ENSP00000495701.1:p.Ser81Ter", "hgvsWellDefined": "ENSP00000495701.1:p.Ser81_Gln464delinsThrValGluGluArgValAlaGlnGluAlaLeuGluThrLeuGlnLeuGluLysArgLeuSerLeuLeuSerHisAlaGlyArgProGlySerGlyGlyAspAspArgSerLeuSerSerSerSerSerGluAlaSerHisLeuAspValSerAlaSerSerArgLeuThrAlaTrpProGluGlnSerSerSerSerAlaSerThrSerGlnGluGlyProArgProAlaAlaAlaGlnAlaAlaGlyGluAlaMetValGlyAlaSerArgProProProLysProLeuArgProArgGlnLeuGlnGluValGlyArgGlnSerSerSerAspSerGlyIleAlaThrGlySerHisSerSerTyrSerSerSerLeuSerSerTyrAlaGlySerSerLeuAspValTrpArgAlaThrAspGluLeuGlySerLeuLeuSerLeuProAlaAlaGlyAlaProGluProSerLeuCysThrCysLeuProGlyThrValGluTyrGlnValProThrSerLeuArgAlaHisTyrAspThrProArgSerLeuCysLeuAlaProArgAspHisSerProProSerGlnGlySerProGlyAsnSerAlaAlaArgAspSerGlyGlyGlnThrSerAlaGlyCysProSerGlyTrpLeuGlyThrArgArgArgGlyLeuValMetGluAlaProGlnGlySerGluAlaThrLeuProGlyProAlaProGlyGluProTrpGluAlaGlyGlyProHisAlaGlyProProProAlaPhePheSerAlaCysProValCysGlyGlyLeuLysGlyAlaAlaAlaSerAlaProGlyProAlaThrAlaHisSerGlySerProGlyProValAlaValAspSerProGlyProGluArgProArgGlyGluSerProThrTyrValAsnIleProValSerProSerSerArgLysGlnLeuHisTyrMetGlyLeuGluLeuGlnGluAlaSerGluGlyValArgGlyAlaGlyAlaSerLeuTyrAlaGlnIleAspIleMetAlaThrGluThrAlaHisArgValGlyValArgHisAlaArgAlaArgGluGluGlnLeuSerGluLeuGluGlnArgLysAlaAlaProGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS767373" }, { "coordinates": [ { "allele": "A", "end": 739, "referenceAllele": "C", "start": 738 } ], "gene": "http://reg.genome.network/gene/GN026594", "geneNCBI_id": 285489, "geneSymbol": "DOK7", "hgvs": [ "ENST00000340083.5:c.674C>A" ], "proteinEffect": { "hgvs": "ENSP00000344432.5:p.Ser225Ter", "hgvsWellDefined": "ENSP00000344432.5:p.Ser225_Pro504delinsThrValGluGluArgValAlaGlnGluAlaLeuGluThrLeuGlnLeuGluLysArgLeuSerLeuLeuSerHisAlaGlyArgProGlySerGlyGlyAspAspArgSerLeuSerSerSerSerSerGluAlaSerHisLeuAspValSerAlaSerSerArgLeuThrAlaTrpProGluGlnSerSerSerSerAlaSerThrSerGlnGluGlyProArgProAlaAlaAlaGlnAlaAlaGlyGluAlaMetValGlyAlaSerArgProProProLysProLeuArgProArgGlnLeuGlnGluValGlyArgGlnSerSerSerAspSerGlyIleAlaThrGlySerHisSerSerTyrSerSerSerLeuSerSerTyrAlaGlySerSerLeuAspValTrpArgAlaThrAspGluLeuGlySerLeuLeuSerLeuProAlaAlaGlyAlaProGluProSerLeuCysThrCysLeuProGlyThrValGluTyrGlnValProThrSerLeuArgAlaHisTyrAspThrProArgSerLeuCysLeuAlaProArgAspHisSerProProSerGlnGlySerProGlyAsnSerAlaAlaArgAspSerGlyGlyGlnThrSerAlaGlyCysProSerGlyTrpLeuGlyThrArgArgArgGlyLeuValMetGluAlaProGlnGlySerGluAlaThrLeuProGlyProAlaProGlyGluProTrpGluAlaGlyGlyProHisAlaGlyProProProAlaPhePheSerAlaCysProValCysGlyGlyLeuLysValAsnProProProTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS261017" }, { "coordinates": [ { "allele": "A", "end": 307, "referenceAllele": "C", "start": 306 } ], "gene": "http://reg.genome.network/gene/GN026594", "geneNCBI_id": 285489, "geneSymbol": "DOK7", "hgvs": [ "ENST00000503688.5:n.307C>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS335932" }, { "coordinates": [ { "allele": "A", "end": 728, "referenceAllele": "C", "start": 727 } ], "gene": "http://reg.genome.network/gene/GN026594", "geneNCBI_id": 285489, "geneSymbol": "DOK7", "hgvs": [ "ENST00000507039.5:c.663C>A" ], "proteinEffect": { "hgvs": "ENSP00000423614.1:p.Leu221=" }, "referenceSequence": "http://reg.genome.network/refseq/RS338435" }, { "coordinates": [ { "allele": "A", "end": 332, "referenceAllele": "C", "start": 331 } ], "gene": "http://reg.genome.network/gene/GN026594", "geneNCBI_id": 285489, "geneSymbol": "DOK7", "hgvs": [ "ENST00000513995.1:n.332C>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS343591" }, { "coordinates": [ { "allele": "A", "end": 442, "referenceAllele": "C", "start": 441 } ], "gene": "http://reg.genome.network/gene/GN026594", "geneNCBI_id": 285489, "geneSymbol": "DOK7", "hgvs": [ "ENST00000515886.5:n.442C>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS345008" }, { "@id": "http://reg.genome.network/allele/PA2825999491", "coordinates": [ { "allele": "A", "end": 733, "referenceAllele": "C", "start": 732 } ], "gene": "http://reg.genome.network/gene/GN026594", "geneNCBI_id": 285489, "geneSymbol": "DOK7", "hgvs": [ "NM_001164673.1:c.663C>A" ], "proteinEffect": { "hgvs": "NP_001158145.1:p.Leu221=" }, "referenceSequence": "http://reg.genome.network/refseq/RS014614" }, { "coordinates": [ { "allele": "A", "end": 442, "referenceAllele": "C", "start": 441 } ], "gene": "http://reg.genome.network/gene/GN026594", "geneNCBI_id": 285489, "geneSymbol": "DOK7", "hgvs": [ "NM_001256896.1:c.-257C>A" ], "proteinEffect": { "hgvs": "NP_001243825.1:n.-257C>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS019513" }, { "@id": "http://reg.genome.network/allele/PA2826862183", "coordinates": [ { "allele": "A", "end": 744, "referenceAllele": "C", "start": 743 } ], "gene": "http://reg.genome.network/gene/GN026594", "geneNCBI_id": 285489, "geneSymbol": "DOK7", "hgvs": [ "NM_001301071.1:c.674C>A" ], "proteinEffect": { "hgvs": "NP_001288000.1:p.Ser225Ter", "hgvsWellDefined": "NP_001288000.1:p.Ser225_Gln608delinsThrValGluGluArgValAlaGlnGluAlaLeuGluThrLeuGlnLeuGluLysArgLeuSerLeuLeuSerHisAlaGlyArgProGlySerGlyGlyAspAspArgSerLeuSerSerSerSerSerGluAlaSerHisLeuAspValSerAlaSerSerArgLeuThrAlaTrpProGluGlnSerSerSerSerAlaSerThrSerGlnGluGlyProArgProAlaAlaAlaGlnAlaAlaGlyGluAlaMetValGlyAlaSerArgProProProLysProLeuArgProArgGlnLeuGlnGluValGlyArgGlnSerSerSerAspSerGlyIleAlaThrGlySerHisSerSerTyrSerSerSerLeuSerSerTyrAlaGlySerSerLeuAspValTrpArgAlaThrAspGluLeuGlySerLeuLeuSerLeuProAlaAlaGlyAlaProGluProSerLeuCysThrCysLeuProGlyThrValGluTyrGlnValProThrSerLeuArgAlaHisTyrAspThrProArgSerLeuCysLeuAlaProArgAspHisSerProProSerGlnGlySerProGlyAsnSerAlaAlaArgAspSerGlyGlyGlnThrSerAlaGlyCysProSerGlyTrpLeuGlyThrArgArgArgGlyLeuValMetGluAlaProGlnGlySerGluAlaThrLeuProGlyProAlaProGlyGluProTrpGluAlaGlyGlyProHisAlaGlyProProProAlaPhePheSerAlaCysProValCysGlyGlyLeuLysGlyAlaAlaAlaSerAlaProGlyProAlaThrAlaHisSerGlySerProGlyProValAlaValAspSerProGlyProGluArgProArgGlyGluSerProThrTyrValAsnIleProValSerProSerSerArgLysGlnLeuHisTyrMetGlyLeuGluLeuGlnGluAlaSerGluGlyValArgGlyAlaGlyAlaSerLeuTyrAlaGlnIleAspIleMetAlaThrGluThrAlaHisArgValGlyValArgHisAlaArgAlaArgGluGluGlnLeuSerGluLeuGluGlnArgLysAlaAlaProGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS025085" }, { "@id": "http://reg.genome.network/allele/PA2830366487", "coordinates": [ { "allele": "A", "end": 744, "referenceAllele": "C", "start": 743 } ], "gene": "http://reg.genome.network/gene/GN026594", "geneNCBI_id": 285489, "geneSymbol": "DOK7", "hgvs": [ "NM_173660.4:c.674C>A" ], "proteinEffect": { "hgvs": "NP_775931.3:p.Ser225Ter", "hgvsWellDefined": "NP_775931.3:p.Ser225_Pro504delinsThrValGluGluArgValAlaGlnGluAlaLeuGluThrLeuGlnLeuGluLysArgLeuSerLeuLeuSerHisAlaGlyArgProGlySerGlyGlyAspAspArgSerLeuSerSerSerSerSerGluAlaSerHisLeuAspValSerAlaSerSerArgLeuThrAlaTrpProGluGlnSerSerSerSerAlaSerThrSerGlnGluGlyProArgProAlaAlaAlaGlnAlaAlaGlyGluAlaMetValGlyAlaSerArgProProProLysProLeuArgProArgGlnLeuGlnGluValGlyArgGlnSerSerSerAspSerGlyIleAlaThrGlySerHisSerSerTyrSerSerSerLeuSerSerTyrAlaGlySerSerLeuAspValTrpArgAlaThrAspGluLeuGlySerLeuLeuSerLeuProAlaAlaGlyAlaProGluProSerLeuCysThrCysLeuProGlyThrValGluTyrGlnValProThrSerLeuArgAlaHisTyrAspThrProArgSerLeuCysLeuAlaProArgAspHisSerProProSerGlnGlySerProGlyAsnSerAlaAlaArgAspSerGlyGlyGlnThrSerAlaGlyCysProSerGlyTrpLeuGlyThrArgArgArgGlyLeuValMetGluAlaProGlnGlySerGluAlaThrLeuProGlyProAlaProGlyGluProTrpGluAlaGlyGlyProHisAlaGlyProProProAlaPhePheSerAlaCysProValCysGlyGlyLeuLysValAsnProProProTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS042981" }, { "coordinates": [ { "allele": "A", "end": 744, "referenceAllele": "C", "start": 743 } ], "gene": "http://reg.genome.network/gene/GN026594", "geneNCBI_id": 285489, "geneSymbol": "DOK7", "hgvs": [ "XM_011513435.1:c.674C>A" ], "proteinEffect": { "hgvs": "XP_011511737.1:p.Ser225Ter", "hgvsWellDefined": "XP_011511737.1:p.Ser225_Arg636delinsThrValGluGluArgValAlaGlnGluAlaLeuGluThrLeuGlnLeuGluLysArgLeuSerLeuLeuSerHisAlaGlyArgProGlySerGlyGlyAspAspArgSerLeuSerSerSerSerSerGluAlaSerHisLeuAspValSerAlaSerSerArgLeuThrAlaTrpProGluGlnSerSerSerSerAlaSerThrSerGlnGluGlyProArgProAlaAlaAlaGlnAlaAlaGlyGluAlaMetValGlyAlaSerArgProProProLysProLeuArgProArgGlnLeuGlnGluValGlyArgGlnSerSerSerAspSerGlyIleAlaThrGlySerHisSerSerTyrSerSerSerLeuSerSerTyrAlaGlySerSerLeuAspValTrpArgAlaThrAspGluLeuGlySerLeuLeuSerLeuProAlaAlaGlyAlaProGluProSerLeuCysThrCysLeuProGlyThrValGluTyrGlnValProThrSerLeuArgAlaHisTyrAspThrProArgSerLeuCysLeuAlaProArgAspHisSerProProSerGlnGlySerProGlyAsnSerAlaAlaArgAspSerGlyGlyGlnThrSerAlaGlyCysProSerGlyTrpLeuGlyThrArgArgArgGlyLeuValMetGluAlaProGlnGlySerGluAlaThrLeuProGlyProAlaProGlyGluProTrpGluAlaGlyGlyProHisAlaGlyProProProAlaPhePheSerAlaCysProValCysGlyGlyLeuLysGlyAlaAlaAlaSerAlaProGlyProAlaThrAlaHisSerValArgProHisAlaProSerCysPheHisProHisProSerProProAsnLeuGlySerLysLeuGlyArgThrAspAlaIleLeuLysArgGlyThrArgLeuGlnGlyGlyValGlnProHisArgGlyGlnAlaProAlaLeuProLeuGlyPheLysAlaProPheProAspAlaArgProArgArgSerLeuSerSerProGlnAlaLeuThrProProAlaSerProThrThrProSerTrpProSerProSerAlaMetProProProLeuGlySerTrpProCysTrpProCysProCysTrpProArgCysLeuProGlyHisGlnAsnLeuAlaAlaMetPheCysGlySerSerArgTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS080682" }, { "coordinates": [ { "allele": "A", "end": 744, "referenceAllele": "C", "start": 743 } ], "gene": "http://reg.genome.network/gene/GN026594", "geneNCBI_id": 285489, "geneSymbol": "DOK7", "hgvs": [ "XM_011513436.1:c.674C>A" ], "proteinEffect": { "hgvs": "XP_011511738.1:p.Ser225Ter", "hgvsWellDefined": "XP_011511738.1:p.Ser225_Gln613delinsThrValGluGluArgValAlaGlnGluAlaLeuGluThrLeuGlnLeuGluLysArgLeuSerLeuLeuSerHisAlaGlyArgProGlySerGlyGlyAspAspArgSerLeuSerSerSerSerSerGluAlaSerHisLeuAspValSerAlaSerSerArgLeuThrAlaTrpProGluGlnSerSerSerSerAlaSerThrSerGlnGluGlyProArgProAlaAlaAlaGlnAlaAlaGlyGluAlaMetValGlyAlaSerArgProProProLysProLeuArgProArgGlnLeuGlnGluValGlyArgGlnSerSerSerAspSerGlyIleAlaThrGlySerHisSerSerTyrSerSerSerLeuSerSerTyrAlaGlySerSerLeuAspValTrpArgAlaThrAspGluLeuGlySerLeuLeuSerLeuProAlaAlaGlyAlaProGluProSerLeuCysThrCysLeuProGlyThrValGluTyrGlnValProThrSerLeuArgAlaHisTyrAspThrProArgSerLeuCysLeuAlaProArgAspHisSerProProSerGlnGlySerProGlyAsnSerAlaAlaArgAspSerGlyGlyGlnThrSerAlaGlyCysProSerGlyTrpLeuGlyThrArgArgArgGlyLeuValMetGluAlaProGlnGlySerGluAlaThrLeuProGlyProAlaProGlyGluProTrpGluAlaGlyGlyProHisAlaGlyProProProAlaPhePheSerAlaCysProValCysGlyGlyLeuLysGlyAlaAlaAlaSerAlaProGlyProAlaThrAlaHisSerAlaAlaProProThrGlySerProGlyProValAlaValAspSerProGlyProGluArgProArgGlyGluSerProThrTyrValAsnIleProValSerProSerSerArgLysGlnLeuHisTyrMetGlyLeuGluLeuGlnGluAlaSerGluGlyValArgGlyAlaGlyAlaSerLeuTyrAlaGlnIleAspIleMetAlaThrGluThrAlaHisArgValGlyValArgHisAlaArgAlaArgGluGluGlnLeuSerGluLeuGluGlnArgLysAlaAlaProGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS080683" }, { "coordinates": [ { "allele": "A", "end": 733, "referenceAllele": "C", "start": 732 } ], "gene": "http://reg.genome.network/gene/GN026594", "geneNCBI_id": 285489, "geneSymbol": "DOK7", "hgvs": [ "XM_011513437.1:c.260C>A" ], "proteinEffect": { "hgvs": "XP_011511739.1:p.Ser87Ter", "hgvsWellDefined": "XP_011511739.1:p.Ser87_Arg498delinsThrValGluGluArgValAlaGlnGluAlaLeuGluThrLeuGlnLeuGluLysArgLeuSerLeuLeuSerHisAlaGlyArgProGlySerGlyGlyAspAspArgSerLeuSerSerSerSerSerGluAlaSerHisLeuAspValSerAlaSerSerArgLeuThrAlaTrpProGluGlnSerSerSerSerAlaSerThrSerGlnGluGlyProArgProAlaAlaAlaGlnAlaAlaGlyGluAlaMetValGlyAlaSerArgProProProLysProLeuArgProArgGlnLeuGlnGluValGlyArgGlnSerSerSerAspSerGlyIleAlaThrGlySerHisSerSerTyrSerSerSerLeuSerSerTyrAlaGlySerSerLeuAspValTrpArgAlaThrAspGluLeuGlySerLeuLeuSerLeuProAlaAlaGlyAlaProGluProSerLeuCysThrCysLeuProGlyThrValGluTyrGlnValProThrSerLeuArgAlaHisTyrAspThrProArgSerLeuCysLeuAlaProArgAspHisSerProProSerGlnGlySerProGlyAsnSerAlaAlaArgAspSerGlyGlyGlnThrSerAlaGlyCysProSerGlyTrpLeuGlyThrArgArgArgGlyLeuValMetGluAlaProGlnGlySerGluAlaThrLeuProGlyProAlaProGlyGluProTrpGluAlaGlyGlyProHisAlaGlyProProProAlaPhePheSerAlaCysProValCysGlyGlyLeuLysGlyAlaAlaAlaSerAlaProGlyProAlaThrAlaHisSerValArgProHisAlaProSerCysPheHisProHisProSerProProAsnLeuGlySerLysLeuGlyArgThrAspAlaIleLeuLysArgGlyThrArgLeuGlnGlyGlyValGlnProHisArgGlyGlnAlaProAlaLeuProLeuGlyPheLysAlaProPheProAspAlaArgProArgArgSerLeuSerSerProGlnAlaLeuThrProProAlaSerProThrThrProSerTrpProSerProSerAlaMetProProProLeuGlySerTrpProCysTrpProCysProCysTrpProArgCysLeuProGlyHisGlnAsnLeuAlaAlaMetPheCysGlySerSerArgTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS080684" }, { "@id": "http://reg.genome.network/allele/PA2741870324", "coordinates": [ { "allele": "A", "end": 312, "referenceAllele": "C", "start": 311 } ], "gene": "http://reg.genome.network/gene/GN026594", "geneNCBI_id": 285489, "geneSymbol": "DOK7", "hgvs": [ "NM_001363811.1:c.242C>A" ], "proteinEffect": { "hgvs": "NP_001350740.1:p.Ser81Ter", "hgvsWellDefined": "NP_001350740.1:p.Ser81_Gln464delinsThrValGluGluArgValAlaGlnGluAlaLeuGluThrLeuGlnLeuGluLysArgLeuSerLeuLeuSerHisAlaGlyArgProGlySerGlyGlyAspAspArgSerLeuSerSerSerSerSerGluAlaSerHisLeuAspValSerAlaSerSerArgLeuThrAlaTrpProGluGlnSerSerSerSerAlaSerThrSerGlnGluGlyProArgProAlaAlaAlaGlnAlaAlaGlyGluAlaMetValGlyAlaSerArgProProProLysProLeuArgProArgGlnLeuGlnGluValGlyArgGlnSerSerSerAspSerGlyIleAlaThrGlySerHisSerSerTyrSerSerSerLeuSerSerTyrAlaGlySerSerLeuAspValTrpArgAlaThrAspGluLeuGlySerLeuLeuSerLeuProAlaAlaGlyAlaProGluProSerLeuCysThrCysLeuProGlyThrValGluTyrGlnValProThrSerLeuArgAlaHisTyrAspThrProArgSerLeuCysLeuAlaProArgAspHisSerProProSerGlnGlySerProGlyAsnSerAlaAlaArgAspSerGlyGlyGlnThrSerAlaGlyCysProSerGlyTrpLeuGlyThrArgArgArgGlyLeuValMetGluAlaProGlnGlySerGluAlaThrLeuProGlyProAlaProGlyGluProTrpGluAlaGlyGlyProHisAlaGlyProProProAlaPhePheSerAlaCysProValCysGlyGlyLeuLysGlyAlaAlaAlaSerAlaProGlyProAlaThrAlaHisSerGlySerProGlyProValAlaValAspSerProGlyProGluArgProArgGlyGluSerProThrTyrValAsnIleProValSerProSerSerArgLysGlnLeuHisTyrMetGlyLeuGluLeuGlnGluAlaSerGluGlyValArgGlyAlaGlyAlaSerLeuTyrAlaGlnIleAspIleMetAlaThrGluThrAlaHisArgValGlyValArgHisAlaArgAlaArgGluGluGlnLeuSerGluLeuGluGlnArgLysAlaAlaProGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS523574" }, { "coordinates": [ { "allele": "A", "end": 744, "referenceAllele": "C", "start": 743 } ], "gene": "http://reg.genome.network/gene/GN026594", "geneNCBI_id": 285489, "geneSymbol": "DOK7", "hgvs": [ "XM_011513435.2:c.674C>A" ], "proteinEffect": { "hgvs": "XP_011511737.1:p.Ser225Ter", "hgvsWellDefined": "XP_011511737.1:p.Ser225_Arg636delinsThrValGluGluArgValAlaGlnGluAlaLeuGluThrLeuGlnLeuGluLysArgLeuSerLeuLeuSerHisAlaGlyArgProGlySerGlyGlyAspAspArgSerLeuSerSerSerSerSerGluAlaSerHisLeuAspValSerAlaSerSerArgLeuThrAlaTrpProGluGlnSerSerSerSerAlaSerThrSerGlnGluGlyProArgProAlaAlaAlaGlnAlaAlaGlyGluAlaMetValGlyAlaSerArgProProProLysProLeuArgProArgGlnLeuGlnGluValGlyArgGlnSerSerSerAspSerGlyIleAlaThrGlySerHisSerSerTyrSerSerSerLeuSerSerTyrAlaGlySerSerLeuAspValTrpArgAlaThrAspGluLeuGlySerLeuLeuSerLeuProAlaAlaGlyAlaProGluProSerLeuCysThrCysLeuProGlyThrValGluTyrGlnValProThrSerLeuArgAlaHisTyrAspThrProArgSerLeuCysLeuAlaProArgAspHisSerProProSerGlnGlySerProGlyAsnSerAlaAlaArgAspSerGlyGlyGlnThrSerAlaGlyCysProSerGlyTrpLeuGlyThrArgArgArgGlyLeuValMetGluAlaProGlnGlySerGluAlaThrLeuProGlyProAlaProGlyGluProTrpGluAlaGlyGlyProHisAlaGlyProProProAlaPhePheSerAlaCysProValCysGlyGlyLeuLysGlyAlaAlaAlaSerAlaProGlyProAlaThrAlaHisSerValArgProHisAlaProSerCysPheHisProHisProSerProProAsnLeuGlySerLysLeuGlyArgThrAspAlaIleLeuLysArgGlyThrArgLeuGlnGlyGlyValGlnProHisArgGlyGlnAlaProAlaLeuProLeuGlyPheLysAlaProPheProAspAlaArgProArgArgSerLeuSerSerProGlnAlaLeuThrProProAlaSerProThrThrProSerTrpProSerProSerAlaMetProProProLeuGlySerTrpProCysTrpProCysProCysTrpProArgCysLeuProGlyHisGlnAsnLeuAlaAlaMetPheCysGlySerSerArgTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS542908" }, { "coordinates": [ { "allele": "A", "end": 733, "referenceAllele": "C", "start": 732 } ], "gene": "http://reg.genome.network/gene/GN026594", "geneNCBI_id": 285489, "geneSymbol": "DOK7", "hgvs": [ "XM_011513437.2:c.260C>A" ], "proteinEffect": { "hgvs": "XP_011511739.1:p.Ser87Ter", "hgvsWellDefined": "XP_011511739.1:p.Ser87_Arg498delinsThrValGluGluArgValAlaGlnGluAlaLeuGluThrLeuGlnLeuGluLysArgLeuSerLeuLeuSerHisAlaGlyArgProGlySerGlyGlyAspAspArgSerLeuSerSerSerSerSerGluAlaSerHisLeuAspValSerAlaSerSerArgLeuThrAlaTrpProGluGlnSerSerSerSerAlaSerThrSerGlnGluGlyProArgProAlaAlaAlaGlnAlaAlaGlyGluAlaMetValGlyAlaSerArgProProProLysProLeuArgProArgGlnLeuGlnGluValGlyArgGlnSerSerSerAspSerGlyIleAlaThrGlySerHisSerSerTyrSerSerSerLeuSerSerTyrAlaGlySerSerLeuAspValTrpArgAlaThrAspGluLeuGlySerLeuLeuSerLeuProAlaAlaGlyAlaProGluProSerLeuCysThrCysLeuProGlyThrValGluTyrGlnValProThrSerLeuArgAlaHisTyrAspThrProArgSerLeuCysLeuAlaProArgAspHisSerProProSerGlnGlySerProGlyAsnSerAlaAlaArgAspSerGlyGlyGlnThrSerAlaGlyCysProSerGlyTrpLeuGlyThrArgArgArgGlyLeuValMetGluAlaProGlnGlySerGluAlaThrLeuProGlyProAlaProGlyGluProTrpGluAlaGlyGlyProHisAlaGlyProProProAlaPhePheSerAlaCysProValCysGlyGlyLeuLysGlyAlaAlaAlaSerAlaProGlyProAlaThrAlaHisSerValArgProHisAlaProSerCysPheHisProHisProSerProProAsnLeuGlySerLysLeuGlyArgThrAspAlaIleLeuLysArgGlyThrArgLeuGlnGlyGlyValGlnProHisArgGlyGlnAlaProAlaLeuProLeuGlyPheLysAlaProPheProAspAlaArgProArgArgSerLeuSerSerProGlnAlaLeuThrProProAlaSerProThrThrProSerTrpProSerProSerAlaMetProProProLeuGlySerTrpProCysTrpProCysProCysTrpProArgCysLeuProGlyHisGlnAsnLeuAlaAlaMetPheCysGlySerSerArgTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS542909" }, { "@id": "http://reg.genome.network/allele/PA2830366487", "coordinates": [ { "allele": "A", "end": 744, "referenceAllele": "C", "start": 743 } ], "gene": "http://reg.genome.network/gene/GN026594", "geneNCBI_id": 285489, "geneSymbol": "DOK7", "hgvs": [ "NM_173660.5:c.674C>A" ], "proteinEffect": { "hgvs": "NP_775931.3:p.Ser225Ter", "hgvsWellDefined": "NP_775931.3:p.Ser225_Pro504delinsThrValGluGluArgValAlaGlnGluAlaLeuGluThrLeuGlnLeuGluLysArgLeuSerLeuLeuSerHisAlaGlyArgProGlySerGlyGlyAspAspArgSerLeuSerSerSerSerSerGluAlaSerHisLeuAspValSerAlaSerSerArgLeuThrAlaTrpProGluGlnSerSerSerSerAlaSerThrSerGlnGluGlyProArgProAlaAlaAlaGlnAlaAlaGlyGluAlaMetValGlyAlaSerArgProProProLysProLeuArgProArgGlnLeuGlnGluValGlyArgGlnSerSerSerAspSerGlyIleAlaThrGlySerHisSerSerTyrSerSerSerLeuSerSerTyrAlaGlySerSerLeuAspValTrpArgAlaThrAspGluLeuGlySerLeuLeuSerLeuProAlaAlaGlyAlaProGluProSerLeuCysThrCysLeuProGlyThrValGluTyrGlnValProThrSerLeuArgAlaHisTyrAspThrProArgSerLeuCysLeuAlaProArgAspHisSerProProSerGlnGlySerProGlyAsnSerAlaAlaArgAspSerGlyGlyGlnThrSerAlaGlyCysProSerGlyTrpLeuGlyThrArgArgArgGlyLeuValMetGluAlaProGlnGlySerGluAlaThrLeuProGlyProAlaProGlyGluProTrpGluAlaGlyGlyProHisAlaGlyProProProAlaPhePheSerAlaCysProValCysGlyGlyLeuLysValAsnProProProTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS672701", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000340083.6:c.674C>A" }, "RefSeq": { "hgvs": "NM_173660.5:c.674C>A" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000344432.5:p.Ser225Ter" }, "RefSeq": { "hgvs": "NP_775931.3:p.Ser225Ter" } } } }, { "@id": "http://reg.genome.network/allele/PA2825999491", "coordinates": [ { "allele": "A", "end": 733, "referenceAllele": "C", "start": 732 } ], "gene": "http://reg.genome.network/gene/GN026594", "geneNCBI_id": 285489, "geneSymbol": "DOK7", "hgvs": [ "NM_001164673.2:c.663C>A" ], "proteinEffect": { "hgvs": "NP_001158145.1:p.Leu221=" }, "referenceSequence": "http://reg.genome.network/refseq/RS678361" }, { "@id": "http://reg.genome.network/allele/PA2826862183", "coordinates": [ { "allele": "A", "end": 744, "referenceAllele": "C", "start": 743 } ], "gene": "http://reg.genome.network/gene/GN026594", "geneNCBI_id": 285489, "geneSymbol": "DOK7", "hgvs": [ "NM_001301071.2:c.674C>A" ], "proteinEffect": { "hgvs": "NP_001288000.1:p.Ser225Ter", "hgvsWellDefined": "NP_001288000.1:p.Ser225_Gln608delinsThrValGluGluArgValAlaGlnGluAlaLeuGluThrLeuGlnLeuGluLysArgLeuSerLeuLeuSerHisAlaGlyArgProGlySerGlyGlyAspAspArgSerLeuSerSerSerSerSerGluAlaSerHisLeuAspValSerAlaSerSerArgLeuThrAlaTrpProGluGlnSerSerSerSerAlaSerThrSerGlnGluGlyProArgProAlaAlaAlaGlnAlaAlaGlyGluAlaMetValGlyAlaSerArgProProProLysProLeuArgProArgGlnLeuGlnGluValGlyArgGlnSerSerSerAspSerGlyIleAlaThrGlySerHisSerSerTyrSerSerSerLeuSerSerTyrAlaGlySerSerLeuAspValTrpArgAlaThrAspGluLeuGlySerLeuLeuSerLeuProAlaAlaGlyAlaProGluProSerLeuCysThrCysLeuProGlyThrValGluTyrGlnValProThrSerLeuArgAlaHisTyrAspThrProArgSerLeuCysLeuAlaProArgAspHisSerProProSerGlnGlySerProGlyAsnSerAlaAlaArgAspSerGlyGlyGlnThrSerAlaGlyCysProSerGlyTrpLeuGlyThrArgArgArgGlyLeuValMetGluAlaProGlnGlySerGluAlaThrLeuProGlyProAlaProGlyGluProTrpGluAlaGlyGlyProHisAlaGlyProProProAlaPhePheSerAlaCysProValCysGlyGlyLeuLysGlyAlaAlaAlaSerAlaProGlyProAlaThrAlaHisSerGlySerProGlyProValAlaValAspSerProGlyProGluArgProArgGlyGluSerProThrTyrValAsnIleProValSerProSerSerArgLysGlnLeuHisTyrMetGlyLeuGluLeuGlnGluAlaSerGluGlyValArgGlyAlaGlyAlaSerLeuTyrAlaGlnIleAspIleMetAlaThrGluThrAlaHisArgValGlyValArgHisAlaArgAlaArgGluGluGlnLeuSerGluLeuGluGlnArgLysAlaAlaProGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS683334" }, { "@id": "http://reg.genome.network/allele/PA2741870324", "coordinates": [ { "allele": "A", "end": 312, "referenceAllele": "C", "start": 311 } ], "gene": "http://reg.genome.network/gene/GN026594", "geneNCBI_id": 285489, "geneSymbol": "DOK7", "hgvs": [ "NM_001363811.2:c.242C>A" ], "proteinEffect": { "hgvs": "NP_001350740.1:p.Ser81Ter", "hgvsWellDefined": "NP_001350740.1:p.Ser81_Gln464delinsThrValGluGluArgValAlaGlnGluAlaLeuGluThrLeuGlnLeuGluLysArgLeuSerLeuLeuSerHisAlaGlyArgProGlySerGlyGlyAspAspArgSerLeuSerSerSerSerSerGluAlaSerHisLeuAspValSerAlaSerSerArgLeuThrAlaTrpProGluGlnSerSerSerSerAlaSerThrSerGlnGluGlyProArgProAlaAlaAlaGlnAlaAlaGlyGluAlaMetValGlyAlaSerArgProProProLysProLeuArgProArgGlnLeuGlnGluValGlyArgGlnSerSerSerAspSerGlyIleAlaThrGlySerHisSerSerTyrSerSerSerLeuSerSerTyrAlaGlySerSerLeuAspValTrpArgAlaThrAspGluLeuGlySerLeuLeuSerLeuProAlaAlaGlyAlaProGluProSerLeuCysThrCysLeuProGlyThrValGluTyrGlnValProThrSerLeuArgAlaHisTyrAspThrProArgSerLeuCysLeuAlaProArgAspHisSerProProSerGlnGlySerProGlyAsnSerAlaAlaArgAspSerGlyGlyGlnThrSerAlaGlyCysProSerGlyTrpLeuGlyThrArgArgArgGlyLeuValMetGluAlaProGlnGlySerGluAlaThrLeuProGlyProAlaProGlyGluProTrpGluAlaGlyGlyProHisAlaGlyProProProAlaPhePheSerAlaCysProValCysGlyGlyLeuLysGlyAlaAlaAlaSerAlaProGlyProAlaThrAlaHisSerGlySerProGlyProValAlaValAspSerProGlyProGluArgProArgGlyGluSerProThrTyrValAsnIleProValSerProSerSerArgLysGlnLeuHisTyrMetGlyLeuGluLeuGlnGluAlaSerGluGlyValArgGlyAlaGlyAlaSerLeuTyrAlaGlnIleAspIleMetAlaThrGluThrAlaHisArgValGlyValArgHisAlaArgAlaArgGluGluGlnLeuSerGluLeuGluGlnArgLysAlaAlaProGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS690778" }, { "coordinates": [ { "allele": "A", "end": 442, "referenceAllele": "C", "start": 441 } ], "gene": "http://reg.genome.network/gene/GN026594", "geneNCBI_id": 285489, "geneSymbol": "DOK7", "hgvs": [ "NM_001256896.2:c.-257C>A" ], "proteinEffect": { "hgvs": "NP_001243825.1:n.-257C>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS714852" } ], "type": "nucleotide" }