{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA251739", "communityStandardTitle": [ "NM_173660.5(DOK7):c.601C>T (p.Arg201Ter)" ], "externalRecords": { "ClinVarAlleles": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=16318[alleleid]", "alleleId": 16318, "preferredName": "NM_173660.5(DOK7):c.601C>T (p.Arg201Ter)" } ], "ClinVarVariations": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/1279", "RCV": [ "RCV000001341", "RCV001781161", "RCV001851535" ], "variationId": 1279 } ], "ExAC": [ { "@id": "http://exac.broadinstitute.org/variant/4-3487334-C-T", "id": "4-3487334-C-T", "variant": "4:3487334 C / T" } ], "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chr4:g.3487334C>T?assembly=hg19", "id": "chr4:g.3487334C>T" } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chr4:g.3485607C>T?assembly=hg38", "id": "chr4:g.3485607C>T" } ], "dbSNP": [ { "@id": "http://www.ncbi.nlm.nih.gov/snp/118203995", "rs": 118203995 } ], "gnomAD_2": [ { "@id": "http://gnomad.broadinstitute.org/variant/4-3487334-C-T?dataset=gnomad_r2_1", "id": "4-3487334-C-T", "variant": "4:3487334 C / T" } ], "gnomAD_4": [ { "@id": "http://gnomad.broadinstitute.org/variant/4-3485607-C-T?dataset=gnomad_r4", "id": "4-3485607-C-T", "variant": "4:3485607 C / T" } ] }, "genomicAlleles": [ { "chromosome": "4", "coordinates": [ { "allele": "T", "end": 3485607, "referenceAllele": "C", "start": 3485606 } ], "hgvs": [ "NC_000004.12:g.3485607C>T", "CM000666.2:g.3485607C>T" ], "referenceGenome": "GRCh38", "referenceSequence": "http://reg.genome.network/refseq/RS000052" }, { "chromosome": "4", "coordinates": [ { "allele": "T", "end": 3487334, "referenceAllele": "C", "start": 3487333 } ], "hgvs": [ "NC_000004.11:g.3487334C>T", "CM000666.1:g.3487334C>T" ], "referenceGenome": "GRCh37", "referenceSequence": "http://reg.genome.network/refseq/RS000028" }, { "chromosome": "4", "coordinates": [ { "allele": "T", "end": 3457132, "referenceAllele": "C", "start": 3457131 } ], "hgvs": [ "NC_000004.10:g.3457132C>T" ], "referenceGenome": "NCBI36", "referenceSequence": "http://reg.genome.network/refseq/RS000004" }, { "coordinates": [ { "allele": "T", "end": 27302, "referenceAllele": "C", "start": 27301 } ], "hgvs": [ "NG_013072.2:g.27302C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS002701" } ], "transcriptAlleles": [ { "coordinates": [ { "allele": "T", "end": 671, "referenceAllele": "C", "start": 670 } ], "gene": "http://reg.genome.network/gene/GN026594", "geneNCBI_id": 285489, "geneSymbol": "DOK7", "hgvs": [ "ENST00000340083.6:c.601C>T" ], "proteinEffect": { "hgvs": "ENSP00000344432.5:p.Arg201Ter", "hgvsWellDefined": "ENSP00000344432.5:p.Arg201_Pro504delinsGlyIleSerProThrLysGlyProPheGlyLeuArgProValLeuProAspProSerProProGlyProSerThrValGluGluArgValAlaGlnGluAlaLeuGluThrLeuGlnLeuGluLysArgLeuSerLeuLeuSerHisAlaGlyArgProGlySerGlyGlyAspAspArgSerLeuSerSerSerSerSerGluAlaSerHisLeuAspValSerAlaSerSerArgLeuThrAlaTrpProGluGlnSerSerSerSerAlaSerThrSerGlnGluGlyProArgProAlaAlaAlaGlnAlaAlaGlyGluAlaMetValGlyAlaSerArgProProProLysProLeuArgProArgGlnLeuGlnGluValGlyArgGlnSerSerSerAspSerGlyIleAlaThrGlySerHisSerSerTyrSerSerSerLeuSerSerTyrAlaGlySerSerLeuAspValTrpArgAlaThrAspGluLeuGlySerLeuLeuSerLeuProAlaAlaGlyAlaProGluProSerLeuCysThrCysLeuProGlyThrValGluTyrGlnValProThrSerLeuArgAlaHisTyrAspThrProArgSerLeuCysLeuAlaProArgAspHisSerProProSerGlnGlySerProGlyAsnSerAlaAlaArgAspSerGlyGlyGlnThrSerAlaGlyCysProSerGlyTrpLeuGlyThrArgArgArgGlyLeuValMetGluAlaProGlnGlySerGluAlaThrLeuProGlyProAlaProGlyGluProTrpGluAlaGlyGlyProHisAlaGlyProProProAlaPhePheSerAlaCysProValCysGlyGlyLeuLysValAsnProProProTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS747871", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000340083.6:c.601C>T" }, "RefSeq": { "hgvs": "NM_173660.5:c.601C>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000344432.5:p.Arg201Ter" }, "RefSeq": { "hgvs": "NP_775931.3:p.Arg201Ter" } } } }, { "coordinates": [ { "allele": "T", "end": 234, "referenceAllele": "C", "start": 233 } ], "gene": "http://reg.genome.network/gene/GN026594", "geneNCBI_id": 285489, "geneSymbol": "DOK7", "hgvs": [ "ENST00000643608.1:c.169C>T" ], "proteinEffect": { "hgvs": "ENSP00000495701.1:p.Arg57Ter", "hgvsWellDefined": "ENSP00000495701.1:p.Arg57_Gln464delinsGlyIleSerProThrLysGlyProPheGlyLeuArgProValLeuProAspProSerProProGlyProSerThrValGluGluArgValAlaGlnGluAlaLeuGluThrLeuGlnLeuGluLysArgLeuSerLeuLeuSerHisAlaGlyArgProGlySerGlyGlyAspAspArgSerLeuSerSerSerSerSerGluAlaSerHisLeuAspValSerAlaSerSerArgLeuThrAlaTrpProGluGlnSerSerSerSerAlaSerThrSerGlnGluGlyProArgProAlaAlaAlaGlnAlaAlaGlyGluAlaMetValGlyAlaSerArgProProProLysProLeuArgProArgGlnLeuGlnGluValGlyArgGlnSerSerSerAspSerGlyIleAlaThrGlySerHisSerSerTyrSerSerSerLeuSerSerTyrAlaGlySerSerLeuAspValTrpArgAlaThrAspGluLeuGlySerLeuLeuSerLeuProAlaAlaGlyAlaProGluProSerLeuCysThrCysLeuProGlyThrValGluTyrGlnValProThrSerLeuArgAlaHisTyrAspThrProArgSerLeuCysLeuAlaProArgAspHisSerProProSerGlnGlySerProGlyAsnSerAlaAlaArgAspSerGlyGlyGlnThrSerAlaGlyCysProSerGlyTrpLeuGlyThrArgArgArgGlyLeuValMetGluAlaProGlnGlySerGluAlaThrLeuProGlyProAlaProGlyGluProTrpGluAlaGlyGlyProHisAlaGlyProProProAlaPhePheSerAlaCysProValCysGlyGlyLeuLysGlyAlaAlaAlaSerAlaProGlyProAlaThrAlaHisSerGlySerProGlyProValAlaValAspSerProGlyProGluArgProArgGlyGluSerProThrTyrValAsnIleProValSerProSerSerArgLysGlnLeuHisTyrMetGlyLeuGluLeuGlnGluAlaSerGluGlyValArgGlyAlaGlyAlaSerLeuTyrAlaGlnIleAspIleMetAlaThrGluThrAlaHisArgValGlyValArgHisAlaArgAlaArgGluGluGlnLeuSerGluLeuGluGlnArgLysAlaAlaProGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS767373" }, { "coordinates": [ { "allele": "T", "end": 666, "referenceAllele": "C", "start": 665 } ], "gene": "http://reg.genome.network/gene/GN026594", "geneNCBI_id": 285489, "geneSymbol": "DOK7", "hgvs": [ "ENST00000340083.5:c.601C>T" ], "proteinEffect": { "hgvs": "ENSP00000344432.5:p.Arg201Ter", "hgvsWellDefined": "ENSP00000344432.5:p.Arg201_Pro504delinsGlyIleSerProThrLysGlyProPheGlyLeuArgProValLeuProAspProSerProProGlyProSerThrValGluGluArgValAlaGlnGluAlaLeuGluThrLeuGlnLeuGluLysArgLeuSerLeuLeuSerHisAlaGlyArgProGlySerGlyGlyAspAspArgSerLeuSerSerSerSerSerGluAlaSerHisLeuAspValSerAlaSerSerArgLeuThrAlaTrpProGluGlnSerSerSerSerAlaSerThrSerGlnGluGlyProArgProAlaAlaAlaGlnAlaAlaGlyGluAlaMetValGlyAlaSerArgProProProLysProLeuArgProArgGlnLeuGlnGluValGlyArgGlnSerSerSerAspSerGlyIleAlaThrGlySerHisSerSerTyrSerSerSerLeuSerSerTyrAlaGlySerSerLeuAspValTrpArgAlaThrAspGluLeuGlySerLeuLeuSerLeuProAlaAlaGlyAlaProGluProSerLeuCysThrCysLeuProGlyThrValGluTyrGlnValProThrSerLeuArgAlaHisTyrAspThrProArgSerLeuCysLeuAlaProArgAspHisSerProProSerGlnGlySerProGlyAsnSerAlaAlaArgAspSerGlyGlyGlnThrSerAlaGlyCysProSerGlyTrpLeuGlyThrArgArgArgGlyLeuValMetGluAlaProGlnGlySerGluAlaThrLeuProGlyProAlaProGlyGluProTrpGluAlaGlyGlyProHisAlaGlyProProProAlaPhePheSerAlaCysProValCysGlyGlyLeuLysValAsnProProProTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS261017" }, { "coordinates": [ { "allele": "T", "end": 234, "referenceAllele": "C", "start": 233 } ], "gene": "http://reg.genome.network/gene/GN026594", "geneNCBI_id": 285489, "geneSymbol": "DOK7", "hgvs": [ "ENST00000503688.5:n.234C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS335932" }, { "coordinates": [ { "allele": "T", "end": 655, "referenceAllele": "C", "start": 654 } ], "gene": "http://reg.genome.network/gene/GN026594", "geneNCBI_id": 285489, "geneSymbol": "DOK7", "hgvs": [ "ENST00000507039.5:c.590C>T" ], "proteinEffect": { "hgvs": "ENSP00000423614.1:p.Pro197Leu", "hgvsWellDefined": "ENSP00000423614.1:p.Pro197Leu" }, "referenceSequence": "http://reg.genome.network/refseq/RS338435" }, { "coordinates": [ { "allele": "T", "end": 259, "referenceAllele": "C", "start": 258 } ], "gene": "http://reg.genome.network/gene/GN026594", "geneNCBI_id": 285489, "geneSymbol": "DOK7", "hgvs": [ "ENST00000513995.1:n.259C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS343591" }, { "coordinates": [ { "allele": "T", "end": 369, "referenceAllele": "C", "start": 368 } ], "gene": "http://reg.genome.network/gene/GN026594", "geneNCBI_id": 285489, "geneSymbol": "DOK7", "hgvs": [ "ENST00000515886.5:n.369C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS345008" }, { "@id": "http://reg.genome.network/allele/PA251741", "coordinates": [ { "allele": "T", "end": 660, "referenceAllele": "C", "start": 659 } ], "gene": "http://reg.genome.network/gene/GN026594", "geneNCBI_id": 285489, "geneSymbol": "DOK7", "hgvs": [ "NM_001164673.1:c.590C>T" ], "proteinEffect": { "hgvs": "NP_001158145.1:p.Pro197Leu", "hgvsWellDefined": "NP_001158145.1:p.Pro197Leu" }, "referenceSequence": "http://reg.genome.network/refseq/RS014614" }, { "coordinates": [ { "allele": "T", "end": 369, "referenceAllele": "C", "start": 368 } ], "gene": "http://reg.genome.network/gene/GN026594", "geneNCBI_id": 285489, "geneSymbol": "DOK7", "hgvs": [ "NM_001256896.1:c.-330C>T" ], "proteinEffect": { "hgvs": "NP_001243825.1:n.-330C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS019513" }, { "@id": "http://reg.genome.network/allele/PA2826862108", "coordinates": [ { "allele": "T", "end": 671, "referenceAllele": "C", "start": 670 } ], "gene": "http://reg.genome.network/gene/GN026594", "geneNCBI_id": 285489, "geneSymbol": "DOK7", "hgvs": [ "NM_001301071.1:c.601C>T" ], "proteinEffect": { "hgvs": "NP_001288000.1:p.Arg201Ter", "hgvsWellDefined": "NP_001288000.1:p.Arg201_Gln608delinsGlyIleSerProThrLysGlyProPheGlyLeuArgProValLeuProAspProSerProProGlyProSerThrValGluGluArgValAlaGlnGluAlaLeuGluThrLeuGlnLeuGluLysArgLeuSerLeuLeuSerHisAlaGlyArgProGlySerGlyGlyAspAspArgSerLeuSerSerSerSerSerGluAlaSerHisLeuAspValSerAlaSerSerArgLeuThrAlaTrpProGluGlnSerSerSerSerAlaSerThrSerGlnGluGlyProArgProAlaAlaAlaGlnAlaAlaGlyGluAlaMetValGlyAlaSerArgProProProLysProLeuArgProArgGlnLeuGlnGluValGlyArgGlnSerSerSerAspSerGlyIleAlaThrGlySerHisSerSerTyrSerSerSerLeuSerSerTyrAlaGlySerSerLeuAspValTrpArgAlaThrAspGluLeuGlySerLeuLeuSerLeuProAlaAlaGlyAlaProGluProSerLeuCysThrCysLeuProGlyThrValGluTyrGlnValProThrSerLeuArgAlaHisTyrAspThrProArgSerLeuCysLeuAlaProArgAspHisSerProProSerGlnGlySerProGlyAsnSerAlaAlaArgAspSerGlyGlyGlnThrSerAlaGlyCysProSerGlyTrpLeuGlyThrArgArgArgGlyLeuValMetGluAlaProGlnGlySerGluAlaThrLeuProGlyProAlaProGlyGluProTrpGluAlaGlyGlyProHisAlaGlyProProProAlaPhePheSerAlaCysProValCysGlyGlyLeuLysGlyAlaAlaAlaSerAlaProGlyProAlaThrAlaHisSerGlySerProGlyProValAlaValAspSerProGlyProGluArgProArgGlyGluSerProThrTyrValAsnIleProValSerProSerSerArgLysGlnLeuHisTyrMetGlyLeuGluLeuGlnGluAlaSerGluGlyValArgGlyAlaGlyAlaSerLeuTyrAlaGlnIleAspIleMetAlaThrGluThrAlaHisArgValGlyValArgHisAlaArgAlaArgGluGluGlnLeuSerGluLeuGluGlnArgLysAlaAlaProGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS025085" }, { "@id": "http://reg.genome.network/allele/PA251740", "coordinates": [ { "allele": "T", "end": 671, "referenceAllele": "C", "start": 670 } ], "gene": "http://reg.genome.network/gene/GN026594", "geneNCBI_id": 285489, "geneSymbol": "DOK7", "hgvs": [ "NM_173660.4:c.601C>T" ], "proteinEffect": { "hgvs": "NP_775931.3:p.Arg201Ter", "hgvsWellDefined": "NP_775931.3:p.Arg201_Pro504delinsGlyIleSerProThrLysGlyProPheGlyLeuArgProValLeuProAspProSerProProGlyProSerThrValGluGluArgValAlaGlnGluAlaLeuGluThrLeuGlnLeuGluLysArgLeuSerLeuLeuSerHisAlaGlyArgProGlySerGlyGlyAspAspArgSerLeuSerSerSerSerSerGluAlaSerHisLeuAspValSerAlaSerSerArgLeuThrAlaTrpProGluGlnSerSerSerSerAlaSerThrSerGlnGluGlyProArgProAlaAlaAlaGlnAlaAlaGlyGluAlaMetValGlyAlaSerArgProProProLysProLeuArgProArgGlnLeuGlnGluValGlyArgGlnSerSerSerAspSerGlyIleAlaThrGlySerHisSerSerTyrSerSerSerLeuSerSerTyrAlaGlySerSerLeuAspValTrpArgAlaThrAspGluLeuGlySerLeuLeuSerLeuProAlaAlaGlyAlaProGluProSerLeuCysThrCysLeuProGlyThrValGluTyrGlnValProThrSerLeuArgAlaHisTyrAspThrProArgSerLeuCysLeuAlaProArgAspHisSerProProSerGlnGlySerProGlyAsnSerAlaAlaArgAspSerGlyGlyGlnThrSerAlaGlyCysProSerGlyTrpLeuGlyThrArgArgArgGlyLeuValMetGluAlaProGlnGlySerGluAlaThrLeuProGlyProAlaProGlyGluProTrpGluAlaGlyGlyProHisAlaGlyProProProAlaPhePheSerAlaCysProValCysGlyGlyLeuLysValAsnProProProTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS042981" }, { "coordinates": [ { "allele": "T", "end": 671, "referenceAllele": "C", "start": 670 } ], "gene": "http://reg.genome.network/gene/GN026594", "geneNCBI_id": 285489, "geneSymbol": "DOK7", "hgvs": [ "XM_011513435.1:c.601C>T" ], "proteinEffect": { "hgvs": "XP_011511737.1:p.Arg201Ter", "hgvsWellDefined": "XP_011511737.1:p.Arg201_Arg636delinsGlyIleSerProThrLysGlyProPheGlyLeuArgProValLeuProAspProSerProProGlyProSerThrValGluGluArgValAlaGlnGluAlaLeuGluThrLeuGlnLeuGluLysArgLeuSerLeuLeuSerHisAlaGlyArgProGlySerGlyGlyAspAspArgSerLeuSerSerSerSerSerGluAlaSerHisLeuAspValSerAlaSerSerArgLeuThrAlaTrpProGluGlnSerSerSerSerAlaSerThrSerGlnGluGlyProArgProAlaAlaAlaGlnAlaAlaGlyGluAlaMetValGlyAlaSerArgProProProLysProLeuArgProArgGlnLeuGlnGluValGlyArgGlnSerSerSerAspSerGlyIleAlaThrGlySerHisSerSerTyrSerSerSerLeuSerSerTyrAlaGlySerSerLeuAspValTrpArgAlaThrAspGluLeuGlySerLeuLeuSerLeuProAlaAlaGlyAlaProGluProSerLeuCysThrCysLeuProGlyThrValGluTyrGlnValProThrSerLeuArgAlaHisTyrAspThrProArgSerLeuCysLeuAlaProArgAspHisSerProProSerGlnGlySerProGlyAsnSerAlaAlaArgAspSerGlyGlyGlnThrSerAlaGlyCysProSerGlyTrpLeuGlyThrArgArgArgGlyLeuValMetGluAlaProGlnGlySerGluAlaThrLeuProGlyProAlaProGlyGluProTrpGluAlaGlyGlyProHisAlaGlyProProProAlaPhePheSerAlaCysProValCysGlyGlyLeuLysGlyAlaAlaAlaSerAlaProGlyProAlaThrAlaHisSerValArgProHisAlaProSerCysPheHisProHisProSerProProAsnLeuGlySerLysLeuGlyArgThrAspAlaIleLeuLysArgGlyThrArgLeuGlnGlyGlyValGlnProHisArgGlyGlnAlaProAlaLeuProLeuGlyPheLysAlaProPheProAspAlaArgProArgArgSerLeuSerSerProGlnAlaLeuThrProProAlaSerProThrThrProSerTrpProSerProSerAlaMetProProProLeuGlySerTrpProCysTrpProCysProCysTrpProArgCysLeuProGlyHisGlnAsnLeuAlaAlaMetPheCysGlySerSerArgTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS080682" }, { "coordinates": [ { "allele": "T", "end": 671, "referenceAllele": "C", "start": 670 } ], "gene": "http://reg.genome.network/gene/GN026594", "geneNCBI_id": 285489, "geneSymbol": "DOK7", "hgvs": [ "XM_011513436.1:c.601C>T" ], "proteinEffect": { "hgvs": "XP_011511738.1:p.Arg201Ter", "hgvsWellDefined": "XP_011511738.1:p.Arg201_Gln613delinsGlyIleSerProThrLysGlyProPheGlyLeuArgProValLeuProAspProSerProProGlyProSerThrValGluGluArgValAlaGlnGluAlaLeuGluThrLeuGlnLeuGluLysArgLeuSerLeuLeuSerHisAlaGlyArgProGlySerGlyGlyAspAspArgSerLeuSerSerSerSerSerGluAlaSerHisLeuAspValSerAlaSerSerArgLeuThrAlaTrpProGluGlnSerSerSerSerAlaSerThrSerGlnGluGlyProArgProAlaAlaAlaGlnAlaAlaGlyGluAlaMetValGlyAlaSerArgProProProLysProLeuArgProArgGlnLeuGlnGluValGlyArgGlnSerSerSerAspSerGlyIleAlaThrGlySerHisSerSerTyrSerSerSerLeuSerSerTyrAlaGlySerSerLeuAspValTrpArgAlaThrAspGluLeuGlySerLeuLeuSerLeuProAlaAlaGlyAlaProGluProSerLeuCysThrCysLeuProGlyThrValGluTyrGlnValProThrSerLeuArgAlaHisTyrAspThrProArgSerLeuCysLeuAlaProArgAspHisSerProProSerGlnGlySerProGlyAsnSerAlaAlaArgAspSerGlyGlyGlnThrSerAlaGlyCysProSerGlyTrpLeuGlyThrArgArgArgGlyLeuValMetGluAlaProGlnGlySerGluAlaThrLeuProGlyProAlaProGlyGluProTrpGluAlaGlyGlyProHisAlaGlyProProProAlaPhePheSerAlaCysProValCysGlyGlyLeuLysGlyAlaAlaAlaSerAlaProGlyProAlaThrAlaHisSerAlaAlaProProThrGlySerProGlyProValAlaValAspSerProGlyProGluArgProArgGlyGluSerProThrTyrValAsnIleProValSerProSerSerArgLysGlnLeuHisTyrMetGlyLeuGluLeuGlnGluAlaSerGluGlyValArgGlyAlaGlyAlaSerLeuTyrAlaGlnIleAspIleMetAlaThrGluThrAlaHisArgValGlyValArgHisAlaArgAlaArgGluGluGlnLeuSerGluLeuGluGlnArgLysAlaAlaProGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS080683" }, { "coordinates": [ { "allele": "T", "end": 660, "referenceAllele": "C", "start": 659 } ], "gene": "http://reg.genome.network/gene/GN026594", "geneNCBI_id": 285489, "geneSymbol": "DOK7", "hgvs": [ "XM_011513437.1:c.187C>T" ], "proteinEffect": { "hgvs": "XP_011511739.1:p.Arg63Ter", "hgvsWellDefined": "XP_011511739.1:p.Arg63_Arg498delinsGlyIleSerProThrLysGlyProPheGlyLeuArgProValLeuProAspProSerProProGlyProSerThrValGluGluArgValAlaGlnGluAlaLeuGluThrLeuGlnLeuGluLysArgLeuSerLeuLeuSerHisAlaGlyArgProGlySerGlyGlyAspAspArgSerLeuSerSerSerSerSerGluAlaSerHisLeuAspValSerAlaSerSerArgLeuThrAlaTrpProGluGlnSerSerSerSerAlaSerThrSerGlnGluGlyProArgProAlaAlaAlaGlnAlaAlaGlyGluAlaMetValGlyAlaSerArgProProProLysProLeuArgProArgGlnLeuGlnGluValGlyArgGlnSerSerSerAspSerGlyIleAlaThrGlySerHisSerSerTyrSerSerSerLeuSerSerTyrAlaGlySerSerLeuAspValTrpArgAlaThrAspGluLeuGlySerLeuLeuSerLeuProAlaAlaGlyAlaProGluProSerLeuCysThrCysLeuProGlyThrValGluTyrGlnValProThrSerLeuArgAlaHisTyrAspThrProArgSerLeuCysLeuAlaProArgAspHisSerProProSerGlnGlySerProGlyAsnSerAlaAlaArgAspSerGlyGlyGlnThrSerAlaGlyCysProSerGlyTrpLeuGlyThrArgArgArgGlyLeuValMetGluAlaProGlnGlySerGluAlaThrLeuProGlyProAlaProGlyGluProTrpGluAlaGlyGlyProHisAlaGlyProProProAlaPhePheSerAlaCysProValCysGlyGlyLeuLysGlyAlaAlaAlaSerAlaProGlyProAlaThrAlaHisSerValArgProHisAlaProSerCysPheHisProHisProSerProProAsnLeuGlySerLysLeuGlyArgThrAspAlaIleLeuLysArgGlyThrArgLeuGlnGlyGlyValGlnProHisArgGlyGlnAlaProAlaLeuProLeuGlyPheLysAlaProPheProAspAlaArgProArgArgSerLeuSerSerProGlnAlaLeuThrProProAlaSerProThrThrProSerTrpProSerProSerAlaMetProProProLeuGlySerTrpProCysTrpProCysProCysTrpProArgCysLeuProGlyHisGlnAsnLeuAlaAlaMetPheCysGlySerSerArgTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS080684" }, { "@id": "http://reg.genome.network/allele/PA2828115445", "coordinates": [ { "allele": "T", "end": 239, "referenceAllele": "C", "start": 238 } ], "gene": "http://reg.genome.network/gene/GN026594", "geneNCBI_id": 285489, "geneSymbol": "DOK7", "hgvs": [ "NM_001363811.1:c.169C>T" ], "proteinEffect": { "hgvs": "NP_001350740.1:p.Arg57Ter", "hgvsWellDefined": "NP_001350740.1:p.Arg57_Gln464delinsGlyIleSerProThrLysGlyProPheGlyLeuArgProValLeuProAspProSerProProGlyProSerThrValGluGluArgValAlaGlnGluAlaLeuGluThrLeuGlnLeuGluLysArgLeuSerLeuLeuSerHisAlaGlyArgProGlySerGlyGlyAspAspArgSerLeuSerSerSerSerSerGluAlaSerHisLeuAspValSerAlaSerSerArgLeuThrAlaTrpProGluGlnSerSerSerSerAlaSerThrSerGlnGluGlyProArgProAlaAlaAlaGlnAlaAlaGlyGluAlaMetValGlyAlaSerArgProProProLysProLeuArgProArgGlnLeuGlnGluValGlyArgGlnSerSerSerAspSerGlyIleAlaThrGlySerHisSerSerTyrSerSerSerLeuSerSerTyrAlaGlySerSerLeuAspValTrpArgAlaThrAspGluLeuGlySerLeuLeuSerLeuProAlaAlaGlyAlaProGluProSerLeuCysThrCysLeuProGlyThrValGluTyrGlnValProThrSerLeuArgAlaHisTyrAspThrProArgSerLeuCysLeuAlaProArgAspHisSerProProSerGlnGlySerProGlyAsnSerAlaAlaArgAspSerGlyGlyGlnThrSerAlaGlyCysProSerGlyTrpLeuGlyThrArgArgArgGlyLeuValMetGluAlaProGlnGlySerGluAlaThrLeuProGlyProAlaProGlyGluProTrpGluAlaGlyGlyProHisAlaGlyProProProAlaPhePheSerAlaCysProValCysGlyGlyLeuLysGlyAlaAlaAlaSerAlaProGlyProAlaThrAlaHisSerGlySerProGlyProValAlaValAspSerProGlyProGluArgProArgGlyGluSerProThrTyrValAsnIleProValSerProSerSerArgLysGlnLeuHisTyrMetGlyLeuGluLeuGlnGluAlaSerGluGlyValArgGlyAlaGlyAlaSerLeuTyrAlaGlnIleAspIleMetAlaThrGluThrAlaHisArgValGlyValArgHisAlaArgAlaArgGluGluGlnLeuSerGluLeuGluGlnArgLysAlaAlaProGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS523574" }, { "coordinates": [ { "allele": "T", "end": 671, "referenceAllele": "C", "start": 670 } ], "gene": "http://reg.genome.network/gene/GN026594", "geneNCBI_id": 285489, "geneSymbol": "DOK7", "hgvs": [ "XM_011513435.2:c.601C>T" ], "proteinEffect": { "hgvs": "XP_011511737.1:p.Arg201Ter", "hgvsWellDefined": "XP_011511737.1:p.Arg201_Arg636delinsGlyIleSerProThrLysGlyProPheGlyLeuArgProValLeuProAspProSerProProGlyProSerThrValGluGluArgValAlaGlnGluAlaLeuGluThrLeuGlnLeuGluLysArgLeuSerLeuLeuSerHisAlaGlyArgProGlySerGlyGlyAspAspArgSerLeuSerSerSerSerSerGluAlaSerHisLeuAspValSerAlaSerSerArgLeuThrAlaTrpProGluGlnSerSerSerSerAlaSerThrSerGlnGluGlyProArgProAlaAlaAlaGlnAlaAlaGlyGluAlaMetValGlyAlaSerArgProProProLysProLeuArgProArgGlnLeuGlnGluValGlyArgGlnSerSerSerAspSerGlyIleAlaThrGlySerHisSerSerTyrSerSerSerLeuSerSerTyrAlaGlySerSerLeuAspValTrpArgAlaThrAspGluLeuGlySerLeuLeuSerLeuProAlaAlaGlyAlaProGluProSerLeuCysThrCysLeuProGlyThrValGluTyrGlnValProThrSerLeuArgAlaHisTyrAspThrProArgSerLeuCysLeuAlaProArgAspHisSerProProSerGlnGlySerProGlyAsnSerAlaAlaArgAspSerGlyGlyGlnThrSerAlaGlyCysProSerGlyTrpLeuGlyThrArgArgArgGlyLeuValMetGluAlaProGlnGlySerGluAlaThrLeuProGlyProAlaProGlyGluProTrpGluAlaGlyGlyProHisAlaGlyProProProAlaPhePheSerAlaCysProValCysGlyGlyLeuLysGlyAlaAlaAlaSerAlaProGlyProAlaThrAlaHisSerValArgProHisAlaProSerCysPheHisProHisProSerProProAsnLeuGlySerLysLeuGlyArgThrAspAlaIleLeuLysArgGlyThrArgLeuGlnGlyGlyValGlnProHisArgGlyGlnAlaProAlaLeuProLeuGlyPheLysAlaProPheProAspAlaArgProArgArgSerLeuSerSerProGlnAlaLeuThrProProAlaSerProThrThrProSerTrpProSerProSerAlaMetProProProLeuGlySerTrpProCysTrpProCysProCysTrpProArgCysLeuProGlyHisGlnAsnLeuAlaAlaMetPheCysGlySerSerArgTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS542908" }, { "coordinates": [ { "allele": "T", "end": 660, "referenceAllele": "C", "start": 659 } ], "gene": "http://reg.genome.network/gene/GN026594", "geneNCBI_id": 285489, "geneSymbol": "DOK7", "hgvs": [ "XM_011513437.2:c.187C>T" ], "proteinEffect": { "hgvs": "XP_011511739.1:p.Arg63Ter", "hgvsWellDefined": "XP_011511739.1:p.Arg63_Arg498delinsGlyIleSerProThrLysGlyProPheGlyLeuArgProValLeuProAspProSerProProGlyProSerThrValGluGluArgValAlaGlnGluAlaLeuGluThrLeuGlnLeuGluLysArgLeuSerLeuLeuSerHisAlaGlyArgProGlySerGlyGlyAspAspArgSerLeuSerSerSerSerSerGluAlaSerHisLeuAspValSerAlaSerSerArgLeuThrAlaTrpProGluGlnSerSerSerSerAlaSerThrSerGlnGluGlyProArgProAlaAlaAlaGlnAlaAlaGlyGluAlaMetValGlyAlaSerArgProProProLysProLeuArgProArgGlnLeuGlnGluValGlyArgGlnSerSerSerAspSerGlyIleAlaThrGlySerHisSerSerTyrSerSerSerLeuSerSerTyrAlaGlySerSerLeuAspValTrpArgAlaThrAspGluLeuGlySerLeuLeuSerLeuProAlaAlaGlyAlaProGluProSerLeuCysThrCysLeuProGlyThrValGluTyrGlnValProThrSerLeuArgAlaHisTyrAspThrProArgSerLeuCysLeuAlaProArgAspHisSerProProSerGlnGlySerProGlyAsnSerAlaAlaArgAspSerGlyGlyGlnThrSerAlaGlyCysProSerGlyTrpLeuGlyThrArgArgArgGlyLeuValMetGluAlaProGlnGlySerGluAlaThrLeuProGlyProAlaProGlyGluProTrpGluAlaGlyGlyProHisAlaGlyProProProAlaPhePheSerAlaCysProValCysGlyGlyLeuLysGlyAlaAlaAlaSerAlaProGlyProAlaThrAlaHisSerValArgProHisAlaProSerCysPheHisProHisProSerProProAsnLeuGlySerLysLeuGlyArgThrAspAlaIleLeuLysArgGlyThrArgLeuGlnGlyGlyValGlnProHisArgGlyGlnAlaProAlaLeuProLeuGlyPheLysAlaProPheProAspAlaArgProArgArgSerLeuSerSerProGlnAlaLeuThrProProAlaSerProThrThrProSerTrpProSerProSerAlaMetProProProLeuGlySerTrpProCysTrpProCysProCysTrpProArgCysLeuProGlyHisGlnAsnLeuAlaAlaMetPheCysGlySerSerArgTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS542909" }, { "@id": "http://reg.genome.network/allele/PA251740", "coordinates": [ { "allele": "T", "end": 671, "referenceAllele": "C", "start": 670 } ], "gene": "http://reg.genome.network/gene/GN026594", "geneNCBI_id": 285489, "geneSymbol": "DOK7", "hgvs": [ "NM_173660.5:c.601C>T" ], "proteinEffect": { "hgvs": "NP_775931.3:p.Arg201Ter", "hgvsWellDefined": "NP_775931.3:p.Arg201_Pro504delinsGlyIleSerProThrLysGlyProPheGlyLeuArgProValLeuProAspProSerProProGlyProSerThrValGluGluArgValAlaGlnGluAlaLeuGluThrLeuGlnLeuGluLysArgLeuSerLeuLeuSerHisAlaGlyArgProGlySerGlyGlyAspAspArgSerLeuSerSerSerSerSerGluAlaSerHisLeuAspValSerAlaSerSerArgLeuThrAlaTrpProGluGlnSerSerSerSerAlaSerThrSerGlnGluGlyProArgProAlaAlaAlaGlnAlaAlaGlyGluAlaMetValGlyAlaSerArgProProProLysProLeuArgProArgGlnLeuGlnGluValGlyArgGlnSerSerSerAspSerGlyIleAlaThrGlySerHisSerSerTyrSerSerSerLeuSerSerTyrAlaGlySerSerLeuAspValTrpArgAlaThrAspGluLeuGlySerLeuLeuSerLeuProAlaAlaGlyAlaProGluProSerLeuCysThrCysLeuProGlyThrValGluTyrGlnValProThrSerLeuArgAlaHisTyrAspThrProArgSerLeuCysLeuAlaProArgAspHisSerProProSerGlnGlySerProGlyAsnSerAlaAlaArgAspSerGlyGlyGlnThrSerAlaGlyCysProSerGlyTrpLeuGlyThrArgArgArgGlyLeuValMetGluAlaProGlnGlySerGluAlaThrLeuProGlyProAlaProGlyGluProTrpGluAlaGlyGlyProHisAlaGlyProProProAlaPhePheSerAlaCysProValCysGlyGlyLeuLysValAsnProProProTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS672701", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000340083.6:c.601C>T" }, "RefSeq": { "hgvs": "NM_173660.5:c.601C>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000344432.5:p.Arg201Ter" }, "RefSeq": { "hgvs": "NP_775931.3:p.Arg201Ter" } } } }, { "@id": "http://reg.genome.network/allele/PA251741", "coordinates": [ { "allele": "T", "end": 660, "referenceAllele": "C", "start": 659 } ], "gene": "http://reg.genome.network/gene/GN026594", "geneNCBI_id": 285489, "geneSymbol": "DOK7", "hgvs": [ "NM_001164673.2:c.590C>T" ], "proteinEffect": { "hgvs": "NP_001158145.1:p.Pro197Leu", "hgvsWellDefined": "NP_001158145.1:p.Pro197Leu" }, "referenceSequence": "http://reg.genome.network/refseq/RS678361" }, { "@id": "http://reg.genome.network/allele/PA2826862108", "coordinates": [ { "allele": "T", "end": 671, "referenceAllele": "C", "start": 670 } ], "gene": "http://reg.genome.network/gene/GN026594", "geneNCBI_id": 285489, "geneSymbol": "DOK7", "hgvs": [ "NM_001301071.2:c.601C>T" ], "proteinEffect": { "hgvs": "NP_001288000.1:p.Arg201Ter", "hgvsWellDefined": "NP_001288000.1:p.Arg201_Gln608delinsGlyIleSerProThrLysGlyProPheGlyLeuArgProValLeuProAspProSerProProGlyProSerThrValGluGluArgValAlaGlnGluAlaLeuGluThrLeuGlnLeuGluLysArgLeuSerLeuLeuSerHisAlaGlyArgProGlySerGlyGlyAspAspArgSerLeuSerSerSerSerSerGluAlaSerHisLeuAspValSerAlaSerSerArgLeuThrAlaTrpProGluGlnSerSerSerSerAlaSerThrSerGlnGluGlyProArgProAlaAlaAlaGlnAlaAlaGlyGluAlaMetValGlyAlaSerArgProProProLysProLeuArgProArgGlnLeuGlnGluValGlyArgGlnSerSerSerAspSerGlyIleAlaThrGlySerHisSerSerTyrSerSerSerLeuSerSerTyrAlaGlySerSerLeuAspValTrpArgAlaThrAspGluLeuGlySerLeuLeuSerLeuProAlaAlaGlyAlaProGluProSerLeuCysThrCysLeuProGlyThrValGluTyrGlnValProThrSerLeuArgAlaHisTyrAspThrProArgSerLeuCysLeuAlaProArgAspHisSerProProSerGlnGlySerProGlyAsnSerAlaAlaArgAspSerGlyGlyGlnThrSerAlaGlyCysProSerGlyTrpLeuGlyThrArgArgArgGlyLeuValMetGluAlaProGlnGlySerGluAlaThrLeuProGlyProAlaProGlyGluProTrpGluAlaGlyGlyProHisAlaGlyProProProAlaPhePheSerAlaCysProValCysGlyGlyLeuLysGlyAlaAlaAlaSerAlaProGlyProAlaThrAlaHisSerGlySerProGlyProValAlaValAspSerProGlyProGluArgProArgGlyGluSerProThrTyrValAsnIleProValSerProSerSerArgLysGlnLeuHisTyrMetGlyLeuGluLeuGlnGluAlaSerGluGlyValArgGlyAlaGlyAlaSerLeuTyrAlaGlnIleAspIleMetAlaThrGluThrAlaHisArgValGlyValArgHisAlaArgAlaArgGluGluGlnLeuSerGluLeuGluGlnArgLysAlaAlaProGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS683334" }, { "@id": "http://reg.genome.network/allele/PA2828115445", "coordinates": [ { "allele": "T", "end": 239, "referenceAllele": "C", "start": 238 } ], "gene": "http://reg.genome.network/gene/GN026594", "geneNCBI_id": 285489, "geneSymbol": "DOK7", "hgvs": [ "NM_001363811.2:c.169C>T" ], "proteinEffect": { "hgvs": "NP_001350740.1:p.Arg57Ter", "hgvsWellDefined": "NP_001350740.1:p.Arg57_Gln464delinsGlyIleSerProThrLysGlyProPheGlyLeuArgProValLeuProAspProSerProProGlyProSerThrValGluGluArgValAlaGlnGluAlaLeuGluThrLeuGlnLeuGluLysArgLeuSerLeuLeuSerHisAlaGlyArgProGlySerGlyGlyAspAspArgSerLeuSerSerSerSerSerGluAlaSerHisLeuAspValSerAlaSerSerArgLeuThrAlaTrpProGluGlnSerSerSerSerAlaSerThrSerGlnGluGlyProArgProAlaAlaAlaGlnAlaAlaGlyGluAlaMetValGlyAlaSerArgProProProLysProLeuArgProArgGlnLeuGlnGluValGlyArgGlnSerSerSerAspSerGlyIleAlaThrGlySerHisSerSerTyrSerSerSerLeuSerSerTyrAlaGlySerSerLeuAspValTrpArgAlaThrAspGluLeuGlySerLeuLeuSerLeuProAlaAlaGlyAlaProGluProSerLeuCysThrCysLeuProGlyThrValGluTyrGlnValProThrSerLeuArgAlaHisTyrAspThrProArgSerLeuCysLeuAlaProArgAspHisSerProProSerGlnGlySerProGlyAsnSerAlaAlaArgAspSerGlyGlyGlnThrSerAlaGlyCysProSerGlyTrpLeuGlyThrArgArgArgGlyLeuValMetGluAlaProGlnGlySerGluAlaThrLeuProGlyProAlaProGlyGluProTrpGluAlaGlyGlyProHisAlaGlyProProProAlaPhePheSerAlaCysProValCysGlyGlyLeuLysGlyAlaAlaAlaSerAlaProGlyProAlaThrAlaHisSerGlySerProGlyProValAlaValAspSerProGlyProGluArgProArgGlyGluSerProThrTyrValAsnIleProValSerProSerSerArgLysGlnLeuHisTyrMetGlyLeuGluLeuGlnGluAlaSerGluGlyValArgGlyAlaGlyAlaSerLeuTyrAlaGlnIleAspIleMetAlaThrGluThrAlaHisArgValGlyValArgHisAlaArgAlaArgGluGluGlnLeuSerGluLeuGluGlnArgLysAlaAlaProGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS690778" }, { "coordinates": [ { "allele": "T", "end": 369, "referenceAllele": "C", "start": 368 } ], "gene": "http://reg.genome.network/gene/GN026594", "geneNCBI_id": 285489, "geneSymbol": "DOK7", "hgvs": [ "NM_001256896.2:c.-330C>T" ], "proteinEffect": { "hgvs": "NP_001243825.1:n.-330C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS714852" } ], "type": "nucleotide" }