{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA406494991", "communityStandardTitle": [ "NM_024301.5(FKRP):c.264C>G (p.Tyr88Ter)" ], "externalRecords": { "ClinVarAlleles": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=588451[alleleid]", "alleleId": 588451, "preferredName": "NM_024301.5(FKRP):c.264C>G (p.Tyr88Ter)" } ], "ClinVarVariations": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/597390", "RCV": [ "RCV000733489" ], "variationId": 597390 } ], "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chr19:g.47258971C>G?assembly=hg19", "id": "chr19:g.47258971C>G" } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chr19:g.46755714C>G?assembly=hg38", "id": "chr19:g.46755714C>G" } ], "dbSNP": [ { "@id": "http://www.ncbi.nlm.nih.gov/snp/1057520771", "rs": 1057520771 } ], "gnomAD_3": [ { "@id": "http://gnomad.broadinstitute.org/variant/19-46755714-C-G?dataset=gnomad_r3", "id": 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"NP_001034974.1:p.Tyr88_Gly495delinsProProLeuAlaLeuProArgIleProAsnValArgLeuAlaLeuLeuGlnProAlaLeuAspArgProAlaAlaAlaSerArgProGluThrTyrValAlaThrGluPheValAlaLeuValProAspGlyAlaArgAlaGluAlaProGlyLeuLeuGluArgMetValGluAlaLeuArgAlaGlySerAlaArgLeuValAlaAlaProValAlaThrAlaAsnProAlaArgCysLeuAlaLeuAsnValSerLeuArgGluTrpThrAlaArgTyrGlyAlaAlaProAlaAlaProArgCysAspAlaLeuAspGlyAspAlaValValLeuLeuArgAlaArgAspLeuPheAsnLeuSerAlaProLeuAlaArgProValGlyThrSerLeuPheLeuGlnThrAlaLeuArgGlyTrpAlaValGlnLeuLeuAspLeuThrPheAlaAlaAlaArgGlnProProLeuAlaThrAlaHisAlaArgTrpLysAlaGluArgGluGlyArgAlaArgArgAlaAlaLeuLeuArgAlaLeuGlyIleArgLeuValSerTrpGluGlyGlyArgLeuGluTrpPheGlyCysAsnLysGluThrThrArgCysPheGlyThrValValGlyAspThrProAlaTyrLeuTyrGluGluArgTrpThrProProCysCysLeuArgAlaLeuArgGluThrAlaArgTyrValValGlyValLeuGluAlaAlaGlyValArgTyrTrpLeuGluGlyGlySerLeuLeuGlyAlaAlaArgHisGlyAspIleIleProTrpAspTyrAspValAspLeuGlyIleTyrLeuGluAspValGlyAsnCysGluGlnLeuArgGlyAlaGluAlaGlySerValValAspGluArgGlyPheValTrpGluLysAlaValGluGlyAspPhePheArgValGlnTyrSerGluSerAsnHisLeuHisValAspLeuTrpProPheTyrProArgAsnGlyValMetThrLysAspThrTrpLeuAspHisArgGlnAspValGluPheProGluHisPheLeuGlnProLeuValProLeuProPheAlaGlyPheValAlaGlnAlaProAsnAsnTyrArgArgPheLeuGluLeuLysPheGlyProGlyValIleGluAsnProGlnTyrProAsnProAlaLeuLeuSerLeuThrGlySerGlyTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS009459" }, { "@id": "http://reg.genome.network/allele/PA645453423", "coordinates": [ { "allele": "G", "end": 561, "referenceAllele": "C", "start": 560 } ], "gene": "http://reg.genome.network/gene/GN017997", "geneNCBI_id": 79147, "geneSymbol": "FKRP", "hgvs": [ "NM_024301.4:c.264C>G" ], "proteinEffect": { "hgvs": "NP_077277.1:p.Tyr88Ter", "hgvsWellDefined": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS037714" }, { "coordinates": [ { "allele": "G", "end": 673, "referenceAllele": "C", "start": 672 } ], "gene": "http://reg.genome.network/gene/GN017997", "geneNCBI_id": 79147, "geneSymbol": "FKRP", "hgvs": [ "XM_005259247.1:c.264C>G" ], "proteinEffect": { "hgvs": "XP_005259304.1:p.Tyr88Ter", "hgvsWellDefined": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS062349" }, { "coordinates": [ { "allele": "G", "end": 633, "referenceAllele": "C", "start": 632 } ], "gene": "http://reg.genome.network/gene/GN017997", "geneNCBI_id": 79147, "geneSymbol": "FKRP", "hgvs": [ "XM_005259248.1:c.264C>G" ], "proteinEffect": { "hgvs": "XP_005259305.1:p.Tyr88Ter", "hgvsWellDefined": "XP_005259305.1:p.Tyr88_Gly495delinsProProLeuAlaLeuProArgIleProAsnValArgLeuAlaLeuLeuGlnProAlaLeuAspArgProAlaAlaAlaSerArgProGluThrTyrValAlaThrGluPheValAlaLeuValProAspGlyAlaArgAlaGluAlaProGlyLeuLeuGluArgMetValGluAlaLeuArgAlaGlySerAlaArgLeuValAlaAlaProValAlaThrAlaAsnProAlaArgCysLeuAlaLeuAsnValSerLeuArgGluTrpThrAlaArgTyrGlyAlaAlaProAlaAlaProArgCysAspAlaLeuAspGlyAspAlaValValLeuLeuArgAlaArgAspLeuPheAsnLeuSerAlaProLeuAlaArgProValGlyThrSerLeuPheLeuGlnThrAlaLeuArgGlyTrpAlaValGlnLeuLeuAspLeuThrPheAlaAlaAlaArgGlnProProLeuAlaThrAlaHisAlaArgTrpLysAlaGluArgGluGlyArgAlaArgArgAlaAlaLeuLeuArgAlaLeuGlyIleArgLeuValSerTrpGluGlyGlyArgLeuGluTrpPheGlyCysAsnLysGluThrThrArgCysPheGlyThrValValGlyAspThrProAlaTyrLeuTyrGluGluArgTrpThrProProCysCysLeuArgAlaLeuArgGluThrAlaArgTyrValValGlyValLeuGluAlaAlaGlyValArgTyrTrpLeuGluGlyGlySerLeuLeuGlyAlaAlaArgHisGlyAspIleIleProTrpAspTyrAspValAspLeuGlyIleTyrLeuGluAspValGlyAsnCysGluGlnLeuArgGlyAlaGluAlaGlySerValValAspGluArgGlyPheValTrpGluLysAlaValGluGlyAspPhePheArgValGlnTyrSerGluSerAsnHisLeuHisValAspLeuTrpProPheTyrProArgAsnGlyValMetThrLysAspThrTrpLeuAspHisArgGlnAspValGluPheProGluHisPheLeuGlnProLeuValProLeuProPheAlaGlyPheValAlaGlnAlaProAsnAsnTyrArgArgPheLeuGluLeuLysPheGlyProGlyValIleGluAsnProGlnTyrProAsnProAlaLeuLeuSerLeuThrGlySerGlyTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS062350" }, { "coordinates": [ { "allele": "G", "end": 611, "referenceAllele": "C", "start": 610 } ], "gene": "http://reg.genome.network/gene/GN017997", "geneNCBI_id": 79147, "geneSymbol": "FKRP", "hgvs": [ "XM_005259249.3:c.264C>G" ], "proteinEffect": { "hgvs": "XP_005259306.1:p.Tyr88Ter", "hgvsWellDefined": "XP_005259306.1:p.Tyr88_Gly495delinsProProLeuAlaLeuProArgIleProAsnValArgLeuAlaLeuLeuGlnProAlaLeuAspArgProAlaAlaAlaSerArgProGluThrTyrValAlaThrGluPheValAlaLeuValProAspGlyAlaArgAlaGluAlaProGlyLeuLeuGluArgMetValGluAlaLeuArgAlaGlySerAlaArgLeuValAlaAlaProValAlaThrAlaAsnProAlaArgCysLeuAlaLeuAsnValSerLeuArgGluTrpThrAlaArgTyrGlyAlaAlaProAlaAlaProArgCysAspAlaLeuAspGlyAspAlaValValLeuLeuArgAlaArgAspLeuPheAsnLeuSerAlaProLeuAlaArgProValGlyThrSerLeuPheLeuGlnThrAlaLeuArgGlyTrpAlaValGlnLeuLeuAspLeuThrPheAlaAlaAlaArgGlnProProLeuAlaThrAlaHisAlaArgTrpLysAlaGluArgGluGlyArgAlaArgArgAlaAlaLeuLeuArgAlaLeuGlyIleArgLeuValSerTrpGluGlyGlyArgLeuGluTrpPheGlyCysAsnLysGluThrThrArgCysPheGlyThrValValGlyAspThrProAlaTyrLeuTyrGluGluArgTrpThrProProCysCysLeuArgAlaLeuArgGluThrAlaArgTyrValValGlyValLeuGluAlaAlaGlyValArgTyrTrpLeuGluGlyGlySerLeuLeuGlyAlaAlaArgHisGlyAspIleIleProTrpAspTyrAspValAspLeuGlyIleTyrLeuGluAspValGlyAsnCysGluGlnLeuArgGlyAlaGluAlaGlySerValValAspGluArgGlyPheValTrpGluLysAlaValGluGlyAspPhePheArgValGlnTyrSerGluSerAsnHisLeuHisValAspLeuTrpProPheTyrProArgAsnGlyValMetThrLysAspThrTrpLeuAspHisArgGlnAspValGluPheProGluHisPheLeuGlnProLeuValProLeuProPheAlaGlyPheValAlaGlnAlaProAsnAsnTyrArgArgPheLeuGluLeuLysPheGlyProGlyValIleGluAsnProGlnTyrProAsnProAlaLeuLeuSerLeuThrGlySerGlyTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS062351" }, { "coordinates": [ { "allele": "G", "end": 659, "referenceAllele": "C", "start": 658 } ], "gene": "http://reg.genome.network/gene/GN017997", "geneNCBI_id": 79147, "geneSymbol": "FKRP", "hgvs": [ "XM_005259250.3:c.264C>G" ], "proteinEffect": { "hgvs": "XP_005259307.1:p.Tyr88Ter", "hgvsWellDefined": "XP_005259307.1:p.Tyr88_Gly495delinsProProLeuAlaLeuProArgIleProAsnValArgLeuAlaLeuLeuGlnProAlaLeuAspArgProAlaAlaAlaSerArgProGluThrTyrValAlaThrGluPheValAlaLeuValProAspGlyAlaArgAlaGluAlaProGlyLeuLeuGluArgMetValGluAlaLeuArgAlaGlySerAlaArgLeuValAlaAlaProValAlaThrAlaAsnProAlaArgCysLeuAlaLeuAsnValSerLeuArgGluTrpThrAlaArgTyrGlyAlaAlaProAlaAlaProArgCysAspAlaLeuAspGlyAspAlaValValLeuLeuArgAlaArgAspLeuPheAsnLeuSerAlaProLeuAlaArgProValGlyThrSerLeuPheLeuGlnThrAlaLeuArgGlyTrpAlaValGlnLeuLeuAspLeuThrPheAlaAlaAlaArgGlnProProLeuAlaThrAlaHisAlaArgTrpLysAlaGluArgGluGlyArgAlaArgArgAlaAlaLeuLeuArgAlaLeuGlyIleArgLeuValSerTrpGluGlyGlyArgLeuGluTrpPheGlyCysAsnLysGluThrThrArgCysPheGlyThrValValGlyAspThrProAlaTyrLeuTyrGluGluArgTrpThrProProCysCysLeuArgAlaLeuArgGluThrAlaArgTyrValValGlyValLeuGluAlaAlaGlyValArgTyrTrpLeuGluGlyGlySerLeuLeuGlyAlaAlaArgHisGlyAspIleIleProTrpAspTyrAspValAspLeuGlyIleTyrLeuGluAspValGlyAsnCysGluGlnLeuArgGlyAlaGluAlaGlySerValValAspGluArgGlyPheValTrpGluLysAlaValGluGlyAspPhePheArgValGlnTyrSerGluSerAsnHisLeuHisValAspLeuTrpProPheTyrProArgAsnGlyValMetThrLysAspThrTrpLeuAspHisArgGlnAspValGluPheProGluHisPheLeuGlnProLeuValProLeuProPheAlaGlyPheValAlaGlnAlaProAsnAsnTyrArgArgPheLeuGluLeuLysPheGlyProGlyValIleGluAsnProGlnTyrProAsnProAlaLeuLeuSerLeuThrGlySerGlyTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS062352" }, { "coordinates": [ { "allele": "G", "end": 955, "referenceAllele": "C", "start": 954 } ], "gene": "http://reg.genome.network/gene/GN017997", "geneNCBI_id": 79147, "geneSymbol": "FKRP", "hgvs": [ "XM_011527301.1:c.264C>G" ], "proteinEffect": { "hgvs": "XP_011525603.1:p.Tyr88Ter", "hgvsWellDefined": "XP_011525603.1:p.Tyr88_Gly495delinsProProLeuAlaLeuProArgIleProAsnValArgLeuAlaLeuLeuGlnProAlaLeuAspArgProAlaAlaAlaSerArgProGluThrTyrValAlaThrGluPheValAlaLeuValProAspGlyAlaArgAlaGluAlaProGlyLeuLeuGluArgMetValGluAlaLeuArgAlaGlySerAlaArgLeuValAlaAlaProValAlaThrAlaAsnProAlaArgCysLeuAlaLeuAsnValSerLeuArgGluTrpThrAlaArgTyrGlyAlaAlaProAlaAlaProArgCysAspAlaLeuAspGlyAspAlaValValLeuLeuArgAlaArgAspLeuPheAsnLeuSerAlaProLeuAlaArgProValGlyThrSerLeuPheLeuGlnThrAlaLeuArgGlyTrpAlaValGlnLeuLeuAspLeuThrPheAlaAlaAlaArgGlnProProLeuAlaThrAlaHisAlaArgTrpLysAlaGluArgGluGlyArgAlaArgArgAlaAlaLeuLeuArgAlaLeuGlyIleArgLeuValSerTrpGluGlyGlyArgLeuGluTrpPheGlyCysAsnLysGluThrThrArgCysPheGlyThrValValGlyAspThrProAlaTyrLeuTyrGluGluArgTrpThrProProCysCysLeuArgAlaLeuArgGluThrAlaArgTyrValValGlyValLeuGluAlaAlaGlyValArgTyrTrpLeuGluGlyGlySerLeuLeuGlyAlaAlaArgHisGlyAspIleIleProTrpAspTyrAspValAspLeuGlyIleTyrLeuGluAspValGlyAsnCysGluGlnLeuArgGlyAlaGluAlaGlySerValValAspGluArgGlyPheValTrpGluLysAlaValGluGlyAspPhePheArgValGlnTyrSerGluSerAsnHisLeuHisValAspLeuTrpProPheTyrProArgAsnGlyValMetThrLysAspThrTrpLeuAspHisArgGlnAspValGluPheProGluHisPheLeuGlnProLeuValProLeuProPheAlaGlyPheValAlaGlnAlaProAsnAsnTyrArgArgPheLeuGluLeuLysPheGlyProGlyValIleGluAsnProGlnTyrProAsnProAlaLeuLeuSerLeuThrGlySerGlyTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS094395" }, { "coordinates": [ { "allele": "G", "end": 944, "referenceAllele": "C", "start": 943 } ], "gene": "http://reg.genome.network/gene/GN017997", "geneNCBI_id": 79147, "geneSymbol": "FKRP", "hgvs": [ "XM_011527302.1:c.264C>G" ], "proteinEffect": { "hgvs": "XP_011525604.1:p.Tyr88Ter", "hgvsWellDefined": "XP_011525604.1:p.Tyr88_Gly495delinsProProLeuAlaLeuProArgIleProAsnValArgLeuAlaLeuLeuGlnProAlaLeuAspArgProAlaAlaAlaSerArgProGluThrTyrValAlaThrGluPheValAlaLeuValProAspGlyAlaArgAlaGluAlaProGlyLeuLeuGluArgMetValGluAlaLeuArgAlaGlySerAlaArgLeuValAlaAlaProValAlaThrAlaAsnProAlaArgCysLeuAlaLeuAsnValSerLeuArgGluTrpThrAlaArgTyrGlyAlaAlaProAlaAlaProArgCysAspAlaLeuAspGlyAspAlaValValLeuLeuArgAlaArgAspLeuPheAsnLeuSerAlaProLeuAlaArgProValGlyThrSerLeuPheLeuGlnThrAlaLeuArgGlyTrpAlaValGlnLeuLeuAspLeuThrPheAlaAlaAlaArgGlnProProLeuAlaThrAlaHisAlaArgTrpLysAlaGluArgGluGlyArgAlaArgArgAlaAlaLeuLeuArgAlaLeuGlyIleArgLeuValSerTrpGluGlyGlyArgLeuGluTrpPheGlyCysAsnLysGluThrThrArgCysPheGlyThrValValGlyAspThrProAlaTyrLeuTyrGluGluArgTrpThrProProCysCysLeuArgAlaLeuArgGluThrAlaArgTyrValValGlyValLeuGluAlaAlaGlyValArgTyrTrpLeuGluGlyGlySerLeuLeuGlyAlaAlaArgHisGlyAspIleIleProTrpAspTyrAspValAspLeuGlyIleTyrLeuGluAspValGlyAsnCysGluGlnLeuArgGlyAlaGluAlaGlySerValValAspGluArgGlyPheValTrpGluLysAlaValGluGlyAspPhePheArgValGlnTyrSerGluSerAsnHisLeuHisValAspLeuTrpProPheTyrProArgAsnGlyValMetThrLysAspThrTrpLeuAspHisArgGlnAspValGluPheProGluHisPheLeuGlnProLeuValProLeuProPheAlaGlyPheValAlaGlnAlaProAsnAsnTyrArgArgPheLeuGluLeuLysPheGlyProGlyValIleGluAsnProGlnTyrProAsnProAlaLeuLeuSerLeuThrGlySerGlyTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS094396" }, { "coordinates": [ { "allele": "G", "end": 757, "referenceAllele": "C", "start": 756 } ], "gene": "http://reg.genome.network/gene/GN017997", "geneNCBI_id": 79147, "geneSymbol": "FKRP", "hgvs": [ "XM_011527303.1:c.264C>G" ], "proteinEffect": { "hgvs": "XP_011525605.1:p.Tyr88Ter", "hgvsWellDefined": "XP_011525605.1:p.Tyr88_Gly495delinsProProLeuAlaLeuProArgIleProAsnValArgLeuAlaLeuLeuGlnProAlaLeuAspArgProAlaAlaAlaSerArgProGluThrTyrValAlaThrGluPheValAlaLeuValProAspGlyAlaArgAlaGluAlaProGlyLeuLeuGluArgMetValGluAlaLeuArgAlaGlySerAlaArgLeuValAlaAlaProValAlaThrAlaAsnProAlaArgCysLeuAlaLeuAsnValSerLeuArgGluTrpThrAlaArgTyrGlyAlaAlaProAlaAlaProArgCysAspAlaLeuAspGlyAspAlaValValLeuLeuArgAlaArgAspLeuPheAsnLeuSerAlaProLeuAlaArgProValGlyThrSerLeuPheLeuGlnThrAlaLeuArgGlyTrpAlaValGlnLeuLeuAspLeuThrPheAlaAlaAlaArgGlnProProLeuAlaThrAlaHisAlaArgTrpLysAlaGluArgGluGlyArgAlaArgArgAlaAlaLeuLeuArgAlaLeuGlyIleArgLeuValSerTrpGluGlyGlyArgLeuGluTrpPheGlyCysAsnLysGluThrThrArgCysPheGlyThrValValGlyAspThrProAlaTyrLeuTyrGluGluArgTrpThrProProCysCysLeuArgAlaLeuArgGluThrAlaArgTyrValValGlyValLeuGluAlaAlaGlyValArgTyrTrpLeuGluGlyGlySerLeuLeuGlyAlaAlaArgHisGlyAspIleIleProTrpAspTyrAspValAspLeuGlyIleTyrLeuGluAspValGlyAsnCysGluGlnLeuArgGlyAlaGluAlaGlySerValValAspGluArgGlyPheValTrpGluLysAlaValGluGlyAspPhePheArgValGlnTyrSerGluSerAsnHisLeuHisValAspLeuTrpProPheTyrProArgAsnGlyValMetThrLysAspThrTrpLeuAspHisArgGlnAspValGluPheProGluHisPheLeuGlnProLeuValProLeuProPheAlaGlyPheValAlaGlnAlaProAsnAsnTyrArgArgPheLeuGluLeuLysPheGlyProGlyValIleGluAsnProGlnTyrProAsnProAlaLeuLeuSerLeuThrGlySerGlyTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS094397" }, { "coordinates": [ { "allele": "G", "end": 695, "referenceAllele": "C", "start": 694 } ], "gene": "http://reg.genome.network/gene/GN017997", "geneNCBI_id": 79147, "geneSymbol": "FKRP", "hgvs": [ "XM_011527304.1:c.264C>G" ], "proteinEffect": { "hgvs": "XP_011525606.1:p.Tyr88Ter", "hgvsWellDefined": "XP_011525606.1:p.Tyr88_Gly495delinsProProLeuAlaLeuProArgIleProAsnValArgLeuAlaLeuLeuGlnProAlaLeuAspArgProAlaAlaAlaSerArgProGluThrTyrValAlaThrGluPheValAlaLeuValProAspGlyAlaArgAlaGluAlaProGlyLeuLeuGluArgMetValGluAlaLeuArgAlaGlySerAlaArgLeuValAlaAlaProValAlaThrAlaAsnProAlaArgCysLeuAlaLeuAsnValSerLeuArgGluTrpThrAlaArgTyrGlyAlaAlaProAlaAlaProArgCysAspAlaLeuAspGlyAspAlaValValLeuLeuArgAlaArgAspLeuPheAsnLeuSerAlaProLeuAlaArgProValGlyThrSerLeuPheLeuGlnThrAlaLeuArgGlyTrpAlaValGlnLeuLeuAspLeuThrPheAlaAlaAlaArgGlnProProLeuAlaThrAlaHisAlaArgTrpLysAlaGluArgGluGlyArgAlaArgArgAlaAlaLeuLeuArgAlaLeuGlyIleArgLeuValSerTrpGluGlyGlyArgLeuGluTrpPheGlyCysAsnLysGluThrThrArgCysPheGlyThrValValGlyAspThrProAlaTyrLeuTyrGluGluArgTrpThrProProCysCysLeuArgAlaLeuArgGluThrAlaArgTyrValValGlyValLeuGluAlaAlaGlyValArgTyrTrpLeuGluGlyGlySerLeuLeuGlyAlaAlaArgHisGlyAspIleIleProTrpAspTyrAspValAspLeuGlyIleTyrLeuGluAspValGlyAsnCysGluGlnLeuArgGlyAlaGluAlaGlySerValValAspGluArgGlyPheValTrpGluLysAlaValGluGlyAspPhePheArgValGlnTyrSerGluSerAsnHisLeuHisValAspLeuTrpProPheTyrProArgAsnGlyValMetThrLysAspThrTrpLeuAspHisArgGlnAspValGluPheProGluHisPheLeuGlnProLeuValProLeuProPheAlaGlyPheValAlaGlnAlaProAsnAsnTyrArgArgPheLeuGluLeuLysPheGlyProGlyValIleGluAsnProGlnTyrProAsnProAlaLeuLeuSerLeuThrGlySerGlyTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS094398" }, { "coordinates": [ { "allele": "G", "end": 541, "referenceAllele": "C", "start": 540 } ], "gene": "http://reg.genome.network/gene/GN017997", "geneNCBI_id": 79147, "geneSymbol": "FKRP", "hgvs": [ "XM_011527305.1:c.264C>G" ], "proteinEffect": { "hgvs": "XP_011525607.1:p.Tyr88Ter", "hgvsWellDefined": "XP_011525607.1:p.Tyr88_Gly495delinsProProLeuAlaLeuProArgIleProAsnValArgLeuAlaLeuLeuGlnProAlaLeuAspArgProAlaAlaAlaSerArgProGluThrTyrValAlaThrGluPheValAlaLeuValProAspGlyAlaArgAlaGluAlaProGlyLeuLeuGluArgMetValGluAlaLeuArgAlaGlySerAlaArgLeuValAlaAlaProValAlaThrAlaAsnProAlaArgCysLeuAlaLeuAsnValSerLeuArgGluTrpThrAlaArgTyrGlyAlaAlaProAlaAlaProArgCysAspAlaLeuAspGlyAspAlaValValLeuLeuArgAlaArgAspLeuPheAsnLeuSerAlaProLeuAlaArgProValGlyThrSerLeuPheLeuGlnThrAlaLeuArgGlyTrpAlaValGlnLeuLeuAspLeuThrPheAlaAlaAlaArgGlnProProLeuAlaThrAlaHisAlaArgTrpLysAlaGluArgGluGlyArgAlaArgArgAlaAlaLeuLeuArgAlaLeuGlyIleArgLeuValSerTrpGluGlyGlyArgLeuGluTrpPheGlyCysAsnLysGluThrThrArgCysPheGlyThrValValGlyAspThrProAlaTyrLeuTyrGluGluArgTrpThrProProCysCysLeuArgAlaLeuArgGluThrAlaArgTyrValValGlyValLeuGluAlaAlaGlyValArgTyrTrpLeuGluGlyGlySerLeuLeuGlyAlaAlaArgHisGlyAspIleIleProTrpAspTyrAspValAspLeuGlyIleTyrLeuGluAspValGlyAsnCysGluGlnLeuArgGlyAlaGluAlaGlySerValValAspGluArgGlyPheValTrpGluLysAlaValGluGlyAspPhePheArgValGlnTyrSerGluSerAsnHisLeuHisValAspLeuTrpProPheTyrProArgAsnGlyValMetThrLysAspThrTrpLeuAspHisArgGlnAspValGluPheProGluHisPheLeuGlnProLeuValProLeuProPheAlaGlyPheValAlaGlnAlaProAsnAsnTyrArgArgPheLeuGluLeuLysPheGlyProGlyValIleGluAsnProGlnTyrProAsnProAlaLeuLeuSerLeuThrGlySerGlyTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS094399" }, { "coordinates": [ { "allele": "G", "end": 410, "referenceAllele": "C", "start": 409 } ], "gene": "http://reg.genome.network/gene/GN017997", "geneNCBI_id": 79147, "geneSymbol": "FKRP", "hgvs": [ "XM_011527306.1:c.264C>G" ], "proteinEffect": { "hgvs": "XP_011525608.1:p.Tyr88Ter", "hgvsWellDefined": "XP_011525608.1:p.Tyr88_Gly495delinsProProLeuAlaLeuProArgIleProAsnValArgLeuAlaLeuLeuGlnProAlaLeuAspArgProAlaAlaAlaSerArgProGluThrTyrValAlaThrGluPheValAlaLeuValProAspGlyAlaArgAlaGluAlaProGlyLeuLeuGluArgMetValGluAlaLeuArgAlaGlySerAlaArgLeuValAlaAlaProValAlaThrAlaAsnProAlaArgCysLeuAlaLeuAsnValSerLeuArgGluTrpThrAlaArgTyrGlyAlaAlaProAlaAlaProArgCysAspAlaLeuAspGlyAspAlaValValLeuLeuArgAlaArgAspLeuPheAsnLeuSerAlaProLeuAlaArgProValGlyThrSerLeuPheLeuGlnThrAlaLeuArgGlyTrpAlaValGlnLeuLeuAspLeuThrPheAlaAlaAlaArgGlnProProLeuAlaThrAlaHisAlaArgTrpLysAlaGluArgGluGlyArgAlaArgArgAlaAlaLeuLeuArgAlaLeuGlyIleArgLeuValSerTrpGluGlyGlyArgLeuGluTrpPheGlyCysAsnLysGluThrThrArgCysPheGlyThrValValGlyAspThrProAlaTyrLeuTyrGluGluArgTrpThrProProCysCysLeuArgAlaLeuArgGluThrAlaArgTyrValValGlyValLeuGluAlaAlaGlyValArgTyrTrpLeuGluGlyGlySerLeuLeuGlyAlaAlaArgHisGlyAspIleIleProTrpAspTyrAspValAspLeuGlyIleTyrLeuGluAspValGlyAsnCysGluGlnLeuArgGlyAlaGluAlaGlySerValValAspGluArgGlyPheValTrpGluLysAlaValGluGlyAspPhePheArgValGlnTyrSerGluSerAsnHisLeuHisValAspLeuTrpProPheTyrProArgAsnGlyValMetThrLysAspThrTrpLeuAspHisArgGlnAspValGluPheProGluHisPheLeuGlnProLeuValProLeuProPheAlaGlyPheValAlaGlnAlaProAsnAsnTyrArgArgPheLeuGluLeuLysPheGlyProGlyValIleGluAsnProGlnTyrProAsnProAlaLeuLeuSerLeuThrGlySerGlyTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS094400" }, { "coordinates": [ { "allele": "G", "end": 459, "referenceAllele": "C", "start": 458 } ], "gene": "http://reg.genome.network/gene/GN017997", "geneNCBI_id": 79147, "geneSymbol": "FKRP", "hgvs": [ "XM_011527307.1:c.264C>G" ], "proteinEffect": { "hgvs": "XP_011525609.1:p.Tyr88Ter", "hgvsWellDefined": "XP_011525609.1:p.Tyr88_Gly495delinsProProLeuAlaLeuProArgIleProAsnValArgLeuAlaLeuLeuGlnProAlaLeuAspArgProAlaAlaAlaSerArgProGluThrTyrValAlaThrGluPheValAlaLeuValProAspGlyAlaArgAlaGluAlaProGlyLeuLeuGluArgMetValGluAlaLeuArgAlaGlySerAlaArgLeuValAlaAlaProValAlaThrAlaAsnProAlaArgCysLeuAlaLeuAsnValSerLeuArgGluTrpThrAlaArgTyrGlyAlaAlaProAlaAlaProArgCysAspAlaLeuAspGlyAspAlaValValLeuLeuArgAlaArgAspLeuPheAsnLeuSerAlaProLeuAlaArgProValGlyThrSerLeuPheLeuGlnThrAlaLeuArgGlyTrpAlaValGlnLeuLeuAspLeuThrPheAlaAlaAlaArgGlnProProLeuAlaThrAlaHisAlaArgTrpLysAlaGluArgGluGlyArgAlaArgArgAlaAlaLeuLeuArgAlaLeuGlyIleArgLeuValSerTrpGluGlyGlyArgLeuGluTrpPheGlyCysAsnLysGluThrThrArgCysPheGlyThrValValGlyAspThrProAlaTyrLeuTyrGluGluArgTrpThrProProCysCysLeuArgAlaLeuArgGluThrAlaArgTyrValValGlyValLeuGluAlaAlaGlyValArgTyrTrpLeuGluGlyGlySerLeuLeuGlyAlaAlaArgHisGlyAspIleIleProTrpAspTyrAspValAspLeuGlyIleTyrLeuGluAspValGlyAsnCysGluGlnLeuArgGlyAlaGluAlaGlySerValValAspGluArgGlyPheValTrpGluLysAlaValGluGlyAspPhePheArgValGlnTyrSerGluSerAsnHisLeuHisValAspLeuTrpProPheTyrProArgAsnGlyValMetThrLysAspThrTrpLeuAspHisArgGlnAspValGluPheProGluHisPheLeuGlnProLeuValProLeuProPheAlaGlyPheValAlaGlnAlaProAsnAsnTyrArgArgPheLeuGluLeuLysPheGlyProGlyValIleGluAsnProGlnTyrProAsnProAlaLeuLeuSerLeuThrGlySerGlyTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS094401" }, { "coordinates": [ { "allele": "G", "end": 674, "referenceAllele": "C", "start": 673 } ], "gene": "http://reg.genome.network/gene/GN017997", "geneNCBI_id": 79147, "geneSymbol": "FKRP", "hgvs": [ "XM_005259247.2:c.264C>G" ], "proteinEffect": { "hgvs": "XP_005259304.1:p.Tyr88Ter", "hgvsWellDefined": "XP_005259304.1:p.Tyr88_Gly495delinsProProLeuAlaLeuProArgIleProAsnValArgLeuAlaLeuLeuGlnProAlaLeuAspArgProAlaAlaAlaSerArgProGluThrTyrValAlaThrGluPheValAlaLeuValProAspGlyAlaArgAlaGluAlaProGlyLeuLeuGluArgMetValGluAlaLeuArgAlaGlySerAlaArgLeuValAlaAlaProValAlaThrAlaAsnProAlaArgCysLeuAlaLeuAsnValSerLeuArgGluTrpThrAlaArgTyrGlyAlaAlaProAlaAlaProArgCysAspAlaLeuAspGlyAspAlaValValLeuLeuArgAlaArgAspLeuPheAsnLeuSerAlaProLeuAlaArgProValGlyThrSerLeuPheLeuGlnThrAlaLeuArgGlyTrpAlaValGlnLeuLeuAspLeuThrPheAlaAlaAlaArgGlnProProLeuAlaThrAlaHisAlaArgTrpLysAlaGluArgGluGlyArgAlaArgArgAlaAlaLeuLeuArgAlaLeuGlyIleArgLeuValSerTrpGluGlyGlyArgLeuGluTrpPheGlyCysAsnLysGluThrThrArgCysPheGlyThrValValGlyAspThrProAlaTyrLeuTyrGluGluArgTrpThrProProCysCysLeuArgAlaLeuArgGluThrAlaArgTyrValValGlyValLeuGluAlaAlaGlyValArgTyrTrpLeuGluGlyGlySerLeuLeuGlyAlaAlaArgHisGlyAspIleIleProTrpAspTyrAspValAspLeuGlyIleTyrLeuGluAspValGlyAsnCysGluGlnLeuArgGlyAlaGluAlaGlySerValValAspGluArgGlyPheValTrpGluLysAlaValGluGlyAspPhePheArgValGlnTyrSerGluSerAsnHisLeuHisValAspLeuTrpProPheTyrProArgAsnGlyValMetThrLysAspThrTrpLeuAspHisArgGlnAspValGluPheProGluHisPheLeuGlnProLeuValProLeuProPheAlaGlyPheValAlaGlnAlaProAsnAsnTyrArgArgPheLeuGluLeuLysPheGlyProGlyValIleGluAsnProGlnTyrProAsnProAlaLeuLeuSerLeuThrGlySerGlyTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS534968" }, { "coordinates": [ { "allele": "G", "end": 664, "referenceAllele": "C", "start": 663 } ], "gene": "http://reg.genome.network/gene/GN017997", "geneNCBI_id": 79147, "geneSymbol": "FKRP", "hgvs": [ "XM_005259248.2:c.264C>G" ], "proteinEffect": { "hgvs": "XP_005259305.1:p.Tyr88Ter", "hgvsWellDefined": "XP_005259305.1:p.Tyr88_Gly495delinsProProLeuAlaLeuProArgIleProAsnValArgLeuAlaLeuLeuGlnProAlaLeuAspArgProAlaAlaAlaSerArgProGluThrTyrValAlaThrGluPheValAlaLeuValProAspGlyAlaArgAlaGluAlaProGlyLeuLeuGluArgMetValGluAlaLeuArgAlaGlySerAlaArgLeuValAlaAlaProValAlaThrAlaAsnProAlaArgCysLeuAlaLeuAsnValSerLeuArgGluTrpThrAlaArgTyrGlyAlaAlaProAlaAlaProArgCysAspAlaLeuAspGlyAspAlaValValLeuLeuArgAlaArgAspLeuPheAsnLeuSerAlaProLeuAlaArgProValGlyThrSerLeuPheLeuGlnThrAlaLeuArgGlyTrpAlaValGlnLeuLeuAspLeuThrPheAlaAlaAlaArgGlnProProLeuAlaThrAlaHisAlaArgTrpLysAlaGluArgGluGlyArgAlaArgArgAlaAlaLeuLeuArgAlaLeuGlyIleArgLeuValSerTrpGluGlyGlyArgLeuGluTrpPheGlyCysAsnLysGluThrThrArgCysPheGlyThrValValGlyAspThrProAlaTyrLeuTyrGluGluArgTrpThrProProCysCysLeuArgAlaLeuArgGluThrAlaArgTyrValValGlyValLeuGluAlaAlaGlyValArgTyrTrpLeuGluGlyGlySerLeuLeuGlyAlaAlaArgHisGlyAspIleIleProTrpAspTyrAspValAspLeuGlyIleTyrLeuGluAspValGlyAsnCysGluGlnLeuArgGlyAlaGluAlaGlySerValValAspGluArgGlyPheValTrpGluLysAlaValGluGlyAspPhePheArgValGlnTyrSerGluSerAsnHisLeuHisValAspLeuTrpProPheTyrProArgAsnGlyValMetThrLysAspThrTrpLeuAspHisArgGlnAspValGluPheProGluHisPheLeuGlnProLeuValProLeuProPheAlaGlyPheValAlaGlnAlaProAsnAsnTyrArgArgPheLeuGluLeuLysPheGlyProGlyValIleGluAsnProGlnTyrProAsnProAlaLeuLeuSerLeuThrGlySerGlyTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS534969" }, { "coordinates": [ { "allele": "G", "end": 606, "referenceAllele": "C", "start": 605 } ], "gene": "http://reg.genome.network/gene/GN017997", "geneNCBI_id": 79147, "geneSymbol": "FKRP", "hgvs": [ "XM_005259249.4:c.264C>G" ], "proteinEffect": { "hgvs": "XP_005259306.1:p.Tyr88Ter", "hgvsWellDefined": "XP_005259306.1:p.Tyr88_Gly495delinsProProLeuAlaLeuProArgIleProAsnValArgLeuAlaLeuLeuGlnProAlaLeuAspArgProAlaAlaAlaSerArgProGluThrTyrValAlaThrGluPheValAlaLeuValProAspGlyAlaArgAlaGluAlaProGlyLeuLeuGluArgMetValGluAlaLeuArgAlaGlySerAlaArgLeuValAlaAlaProValAlaThrAlaAsnProAlaArgCysLeuAlaLeuAsnValSerLeuArgGluTrpThrAlaArgTyrGlyAlaAlaProAlaAlaProArgCysAspAlaLeuAspGlyAspAlaValValLeuLeuArgAlaArgAspLeuPheAsnLeuSerAlaProLeuAlaArgProValGlyThrSerLeuPheLeuGlnThrAlaLeuArgGlyTrpAlaValGlnLeuLeuAspLeuThrPheAlaAlaAlaArgGlnProProLeuAlaThrAlaHisAlaArgTrpLysAlaGluArgGluGlyArgAlaArgArgAlaAlaLeuLeuArgAlaLeuGlyIleArgLeuValSerTrpGluGlyGlyArgLeuGluTrpPheGlyCysAsnLysGluThrThrArgCysPheGlyThrValValGlyAspThrProAlaTyrLeuTyrGluGluArgTrpThrProProCysCysLeuArgAlaLeuArgGluThrAlaArgTyrValValGlyValLeuGluAlaAlaGlyValArgTyrTrpLeuGluGlyGlySerLeuLeuGlyAlaAlaArgHisGlyAspIleIleProTrpAspTyrAspValAspLeuGlyIleTyrLeuGluAspValGlyAsnCysGluGlnLeuArgGlyAlaGluAlaGlySerValValAspGluArgGlyPheValTrpGluLysAlaValGluGlyAspPhePheArgValGlnTyrSerGluSerAsnHisLeuHisValAspLeuTrpProPheTyrProArgAsnGlyValMetThrLysAspThrTrpLeuAspHisArgGlnAspValGluPheProGluHisPheLeuGlnProLeuValProLeuProPheAlaGlyPheValAlaGlnAlaProAsnAsnTyrArgArgPheLeuGluLeuLysPheGlyProGlyValIleGluAsnProGlnTyrProAsnProAlaLeuLeuSerLeuThrGlySerGlyTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS534970" }, { "coordinates": [ { "allele": "G", "end": 399, "referenceAllele": "C", "start": 398 } ], "gene": "http://reg.genome.network/gene/GN017997", "geneNCBI_id": 79147, "geneSymbol": "FKRP", "hgvs": [ "XM_011527306.2:c.264C>G" ], "proteinEffect": { "hgvs": "XP_011525608.1:p.Tyr88Ter", "hgvsWellDefined": "XP_011525608.1:p.Tyr88_Gly495delinsProProLeuAlaLeuProArgIleProAsnValArgLeuAlaLeuLeuGlnProAlaLeuAspArgProAlaAlaAlaSerArgProGluThrTyrValAlaThrGluPheValAlaLeuValProAspGlyAlaArgAlaGluAlaProGlyLeuLeuGluArgMetValGluAlaLeuArgAlaGlySerAlaArgLeuValAlaAlaProValAlaThrAlaAsnProAlaArgCysLeuAlaLeuAsnValSerLeuArgGluTrpThrAlaArgTyrGlyAlaAlaProAlaAlaProArgCysAspAlaLeuAspGlyAspAlaValValLeuLeuArgAlaArgAspLeuPheAsnLeuSerAlaProLeuAlaArgProValGlyThrSerLeuPheLeuGlnThrAlaLeuArgGlyTrpAlaValGlnLeuLeuAspLeuThrPheAlaAlaAlaArgGlnProProLeuAlaThrAlaHisAlaArgTrpLysAlaGluArgGluGlyArgAlaArgArgAlaAlaLeuLeuArgAlaLeuGlyIleArgLeuValSerTrpGluGlyGlyArgLeuGluTrpPheGlyCysAsnLysGluThrThrArgCysPheGlyThrValValGlyAspThrProAlaTyrLeuTyrGluGluArgTrpThrProProCysCysLeuArgAlaLeuArgGluThrAlaArgTyrValValGlyValLeuGluAlaAlaGlyValArgTyrTrpLeuGluGlyGlySerLeuLeuGlyAlaAlaArgHisGlyAspIleIleProTrpAspTyrAspValAspLeuGlyIleTyrLeuGluAspValGlyAsnCysGluGlnLeuArgGlyAlaGluAlaGlySerValValAspGluArgGlyPheValTrpGluLysAlaValGluGlyAspPhePheArgValGlnTyrSerGluSerAsnHisLeuHisValAspLeuTrpProPheTyrProArgAsnGlyValMetThrLysAspThrTrpLeuAspHisArgGlnAspValGluPheProGluHisPheLeuGlnProLeuValProLeuProPheAlaGlyPheValAlaGlnAlaProAsnAsnTyrArgArgPheLeuGluLeuLysPheGlyProGlyValIleGluAsnProGlnTyrProAsnProAlaLeuLeuSerLeuThrGlySerGlyTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS548617" }, { "coordinates": [ { "allele": "G", "end": 769, "referenceAllele": "C", "start": 768 } ], "gene": "http://reg.genome.network/gene/GN017997", "geneNCBI_id": 79147, "geneSymbol": "FKRP", "hgvs": [ "XM_017027297.2:c.264C>G" ], "proteinEffect": { "hgvs": "XP_016882786.1:p.Tyr88Ter", "hgvsWellDefined": "XP_016882786.1:p.Tyr88_Gly495delinsProProLeuAlaLeuProArgIleProAsnValArgLeuAlaLeuLeuGlnProAlaLeuAspArgProAlaAlaAlaSerArgProGluThrTyrValAlaThrGluPheValAlaLeuValProAspGlyAlaArgAlaGluAlaProGlyLeuLeuGluArgMetValGluAlaLeuArgAlaGlySerAlaArgLeuValAlaAlaProValAlaThrAlaAsnProAlaArgCysLeuAlaLeuAsnValSerLeuArgGluTrpThrAlaArgTyrGlyAlaAlaProAlaAlaProArgCysAspAlaLeuAspGlyAspAlaValValLeuLeuArgAlaArgAspLeuPheAsnLeuSerAlaProLeuAlaArgProValGlyThrSerLeuPheLeuGlnThrAlaLeuArgGlyTrpAlaValGlnLeuLeuAspLeuThrPheAlaAlaAlaArgGlnProProLeuAlaThrAlaHisAlaArgTrpLysAlaGluArgGluGlyArgAlaArgArgAlaAlaLeuLeuArgAlaLeuGlyIleArgLeuValSerTrpGluGlyGlyArgLeuGluTrpPheGlyCysAsnLysGluThrThrArgCysPheGlyThrValValGlyAspThrProAlaTyrLeuTyrGluGluArgTrpThrProProCysCysLeuArgAlaLeuArgGluThrAlaArgTyrValValGlyValLeuGluAlaAlaGlyValArgTyrTrpLeuGluGlyGlySerLeuLeuGlyAlaAlaArgHisGlyAspIleIleProTrpAspTyrAspValAspLeuGlyIleTyrLeuGluAspValGlyAsnCysGluGlnLeuArgGlyAlaGluAlaGlySerValValAspGluArgGlyPheValTrpGluLysAlaValGluGlyAspPhePheArgValGlnTyrSerGluSerAsnHisLeuHisValAspLeuTrpProPheTyrProArgAsnGlyValMetThrLysAspThrTrpLeuAspHisArgGlnAspValGluPheProGluHisPheLeuGlnProLeuValProLeuProPheAlaGlyPheValAlaGlnAlaProAsnAsnTyrArgArgPheLeuGluLeuLysPheGlyProGlyValIleGluAsnProGlnTyrProAsnProAlaLeuLeuSerLeuThrGlySerGlyTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS577270" }, { "coordinates": [ { "allele": "G", "end": 471, "referenceAllele": "C", "start": 470 } ], "gene": "http://reg.genome.network/gene/GN017997", "geneNCBI_id": 79147, "geneSymbol": "FKRP", "hgvs": [ "XM_024451707.1:c.264C>G" ], "proteinEffect": { "hgvs": "XP_024307475.1:p.Tyr88Ter", "hgvsWellDefined": "XP_024307475.1:p.Tyr88_Gly495delinsProProLeuAlaLeuProArgIleProAsnValArgLeuAlaLeuLeuGlnProAlaLeuAspArgProAlaAlaAlaSerArgProGluThrTyrValAlaThrGluPheValAlaLeuValProAspGlyAlaArgAlaGluAlaProGlyLeuLeuGluArgMetValGluAlaLeuArgAlaGlySerAlaArgLeuValAlaAlaProValAlaThrAlaAsnProAlaArgCysLeuAlaLeuAsnValSerLeuArgGluTrpThrAlaArgTyrGlyAlaAlaProAlaAlaProArgCysAspAlaLeuAspGlyAspAlaValValLeuLeuArgAlaArgAspLeuPheAsnLeuSerAlaProLeuAlaArgProValGlyThrSerLeuPheLeuGlnThrAlaLeuArgGlyTrpAlaValGlnLeuLeuAspLeuThrPheAlaAlaAlaArgGlnProProLeuAlaThrAlaHisAlaArgTrpLysAlaGluArgGluGlyArgAlaArgArgAlaAlaLeuLeuArgAlaLeuGlyIleArgLeuValSerTrpGluGlyGlyArgLeuGluTrpPheGlyCysAsnLysGluThrThrArgCysPheGlyThrValValGlyAspThrProAlaTyrLeuTyrGluGluArgTrpThrProProCysCysLeuArgAlaLeuArgGluThrAlaArgTyrValValGlyValLeuGluAlaAlaGlyValArgTyrTrpLeuGluGlyGlySerLeuLeuGlyAlaAlaArgHisGlyAspIleIleProTrpAspTyrAspValAspLeuGlyIleTyrLeuGluAspValGlyAsnCysGluGlnLeuArgGlyAlaGluAlaGlySerValValAspGluArgGlyPheValTrpGluLysAlaValGluGlyAspPhePheArgValGlnTyrSerGluSerAsnHisLeuHisValAspLeuTrpProPheTyrProArgAsnGlyValMetThrLysAspThrTrpLeuAspHisArgGlnAspValGluPheProGluHisPheLeuGlnProLeuValProLeuProPheAlaGlyPheValAlaGlnAlaProAsnAsnTyrArgArgPheLeuGluLeuLysPheGlyProGlyValIleGluAsnProGlnTyrProAsnProAlaLeuLeuSerLeuThrGlySerGlyTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS585218" }, { "@id": "http://reg.genome.network/allele/PA2825388107", "coordinates": [ { "allele": "G", "end": 602, "referenceAllele": "C", "start": 601 } ], "gene": "http://reg.genome.network/gene/GN017997", "geneNCBI_id": 79147, "geneSymbol": "FKRP", "hgvs": [ "NM_001039885.3:c.264C>G" ], "proteinEffect": { "hgvs": "NP_001034974.1:p.Tyr88Ter", "hgvsWellDefined": "NP_001034974.1:p.Tyr88_Gly495delinsProProLeuAlaLeuProArgIleProAsnValArgLeuAlaLeuLeuGlnProAlaLeuAspArgProAlaAlaAlaSerArgProGluThrTyrValAlaThrGluPheValAlaLeuValProAspGlyAlaArgAlaGluAlaProGlyLeuLeuGluArgMetValGluAlaLeuArgAlaGlySerAlaArgLeuValAlaAlaProValAlaThrAlaAsnProAlaArgCysLeuAlaLeuAsnValSerLeuArgGluTrpThrAlaArgTyrGlyAlaAlaProAlaAlaProArgCysAspAlaLeuAspGlyAspAlaValValLeuLeuArgAlaArgAspLeuPheAsnLeuSerAlaProLeuAlaArgProValGlyThrSerLeuPheLeuGlnThrAlaLeuArgGlyTrpAlaValGlnLeuLeuAspLeuThrPheAlaAlaAlaArgGlnProProLeuAlaThrAlaHisAlaArgTrpLysAlaGluArgGluGlyArgAlaArgArgAlaAlaLeuLeuArgAlaLeuGlyIleArgLeuValSerTrpGluGlyGlyArgLeuGluTrpPheGlyCysAsnLysGluThrThrArgCysPheGlyThrValValGlyAspThrProAlaTyrLeuTyrGluGluArgTrpThrProProCysCysLeuArgAlaLeuArgGluThrAlaArgTyrValValGlyValLeuGluAlaAlaGlyValArgTyrTrpLeuGluGlyGlySerLeuLeuGlyAlaAlaArgHisGlyAspIleIleProTrpAspTyrAspValAspLeuGlyIleTyrLeuGluAspValGlyAsnCysGluGlnLeuArgGlyAlaGluAlaGlySerValValAspGluArgGlyPheValTrpGluLysAlaValGluGlyAspPhePheArgValGlnTyrSerGluSerAsnHisLeuHisValAspLeuTrpProPheTyrProArgAsnGlyValMetThrLysAspThrTrpLeuAspHisArgGlnAspValGluPheProGluHisPheLeuGlnProLeuValProLeuProPheAlaGlyPheValAlaGlnAlaProAsnAsnTyrArgArgPheLeuGluLeuLysPheGlyProGlyValIleGluAsnProGlnTyrProAsnProAlaLeuLeuSerLeuThrGlySerGlyTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS675931" }, { "@id": "http://reg.genome.network/allele/PA645453423", "coordinates": [ { "allele": "G", "end": 550, "referenceAllele": "C", "start": 549 } ], "gene": "http://reg.genome.network/gene/GN017997", "geneNCBI_id": 79147, "geneSymbol": "FKRP", "hgvs": [ "NM_024301.5:c.264C>G" ], "proteinEffect": { "hgvs": "NP_077277.1:p.Tyr88Ter", "hgvsWellDefined": "NP_077277.1:p.Tyr88_Gly495delinsProProLeuAlaLeuProArgIleProAsnValArgLeuAlaLeuLeuGlnProAlaLeuAspArgProAlaAlaAlaSerArgProGluThrTyrValAlaThrGluPheValAlaLeuValProAspGlyAlaArgAlaGluAlaProGlyLeuLeuGluArgMetValGluAlaLeuArgAlaGlySerAlaArgLeuValAlaAlaProValAlaThrAlaAsnProAlaArgCysLeuAlaLeuAsnValSerLeuArgGluTrpThrAlaArgTyrGlyAlaAlaProAlaAlaProArgCysAspAlaLeuAspGlyAspAlaValValLeuLeuArgAlaArgAspLeuPheAsnLeuSerAlaProLeuAlaArgProValGlyThrSerLeuPheLeuGlnThrAlaLeuArgGlyTrpAlaValGlnLeuLeuAspLeuThrPheAlaAlaAlaArgGlnProProLeuAlaThrAlaHisAlaArgTrpLysAlaGluArgGluGlyArgAlaArgArgAlaAlaLeuLeuArgAlaLeuGlyIleArgLeuValSerTrpGluGlyGlyArgLeuGluTrpPheGlyCysAsnLysGluThrThrArgCysPheGlyThrValValGlyAspThrProAlaTyrLeuTyrGluGluArgTrpThrProProCysCysLeuArgAlaLeuArgGluThrAlaArgTyrValValGlyValLeuGluAlaAlaGlyValArgTyrTrpLeuGluGlyGlySerLeuLeuGlyAlaAlaArgHisGlyAspIleIleProTrpAspTyrAspValAspLeuGlyIleTyrLeuGluAspValGlyAsnCysGluGlnLeuArgGlyAlaGluAlaGlySerValValAspGluArgGlyPheValTrpGluLysAlaValGluGlyAspPhePheArgValGlnTyrSerGluSerAsnHisLeuHisValAspLeuTrpProPheTyrProArgAsnGlyValMetThrLysAspThrTrpLeuAspHisArgGlnAspValGluPheProGluHisPheLeuGlnProLeuValProLeuProPheAlaGlyPheValAlaGlnAlaProAsnAsnTyrArgArgPheLeuGluLeuLysPheGlyProGlyValIleGluAsnProGlnTyrProAsnProAlaLeuLeuSerLeuThrGlySerGlyTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS698678", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000318584.10:c.264C>G" }, "RefSeq": { "hgvs": "NM_024301.5:c.264C>G" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000326570.4:p.Tyr88Ter" }, "RefSeq": { "hgvs": "NP_077277.1:p.Tyr88Ter" } } } } ], "type": "nucleotide" }