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}, "referenceSequence": "http://reg.genome.network/refseq/RS042329" }, { "@id": "http://reg.genome.network/allele/PA2742018452", "coordinates": [ { "allele": "T", "end": 350, "referenceAllele": "C", "start": 349 } ], "gene": "http://reg.genome.network/gene/GN005320", "geneNCBI_id": 3373, "geneSymbol": "HYAL1", "hgvs": [ "NM_153282.2:c.190C>T" ], "proteinEffect": { "hgvs": "NP_695014.1:p.Gln64Ter", "hgvsWellDefined": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS042330" }, { "coordinates": [ { "allele": "T", "end": 136, "endIntronDirection": "-", "endIntronOffset": 143, "referenceAllele": "C", "start": 136, "startIntronDirection": "-", "startIntronOffset": 144 } ], "gene": "http://reg.genome.network/gene/GN005320", "geneNCBI_id": 3373, "geneSymbol": "HYAL1", "hgvs": [ "NM_153283.2:c.-213-144C>T" ], "proteinEffect": { "hgvs": "NP_695015.1:n.-213-144C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS042331" }, { "coordinates": [ { "allele": "T", "end": 136, "endIntronDirection": "-", "endIntronOffset": 561, "referenceAllele": "C", "start": 136, "startIntronDirection": "-", "startIntronOffset": 562 } ], "gene": "http://reg.genome.network/gene/GN005320", "geneNCBI_id": 3373, "geneSymbol": "HYAL1", "hgvs": [ "NM_153285.2:c.-26-562C>T" ], "proteinEffect": { "hgvs": "NP_695017.1:n.-26-562C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS042332" }, { 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}, "referenceSequence": "http://reg.genome.network/refseq/RS100688" }, { "coordinates": [ { "allele": "T", "end": 543, "referenceAllele": "C", "start": 542 } ], "gene": "http://reg.genome.network/gene/GN005320", "geneNCBI_id": 3373, "geneSymbol": "HYAL1", "hgvs": [ "XM_011533668.1:c.190C>T" ], "proteinEffect": { "hgvs": "XP_011531970.1:p.Gln64Ter", "hgvsWellDefined": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS100689" }, { "coordinates": [ { "allele": "T", "end": 496, "referenceAllele": "C", "start": 495 } ], "gene": "http://reg.genome.network/gene/GN005320", "geneNCBI_id": 3373, "geneSymbol": "HYAL1", "hgvs": [ "XM_011533669.1:c.190C>T" ], "proteinEffect": { "hgvs": "XP_011531971.1:p.Gln64Ter", "hgvsWellDefined": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS100690" }, { "coordinates": [ { "allele": "T", "end": 740, "referenceAllele": "C", "start": 739 } ], "gene": "http://reg.genome.network/gene/GN005320", "geneNCBI_id": 3373, "geneSymbol": "HYAL1", "hgvs": [ "XM_011533667.2:c.190C>T" ], "proteinEffect": { "hgvs": "XP_011531969.1:p.Gln64Ter", "hgvsWellDefined": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS551332" }, { "coordinates": [ { "allele": "T", "end": 631, "referenceAllele": "C", "start": 630 } ], "gene": "http://reg.genome.network/gene/GN005320", "geneNCBI_id": 3373, "geneSymbol": "HYAL1", "hgvs": [ "XM_011533668.2:c.190C>T" ], "proteinEffect": { "hgvs": "XP_011531970.1:p.Gln64Ter", "hgvsWellDefined": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS551333" }, { "coordinates": [ { "allele": "T", "end": 1028, "referenceAllele": "C", "start": 1027 } ], "gene": "http://reg.genome.network/gene/GN005320", "geneNCBI_id": 3373, "geneSymbol": "HYAL1", "hgvs": [ "XM_011533669.2:c.190C>T" ], "proteinEffect": { "hgvs": "XP_011531971.1:p.Gln64Ter", "hgvsWellDefined": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS551334" }, { "@id": "http://reg.genome.network/allele/PA2830099425", "coordinates": [ { "allele": "T", "end": 323, "referenceAllele": "C", "start": 322 } ], "gene": "http://reg.genome.network/gene/GN005320", "geneNCBI_id": 3373, "geneSymbol": "HYAL1", "hgvs": [ "NM_033159.4:c.190C>T" ], "proteinEffect": { "hgvs": "NP_149349.2:p.Gln64Ter", "hgvsWellDefined": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS671514", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000395144.7:c.190C>T" }, "RefSeq": { "hgvs": "NM_033159.4:c.190C>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000378576.2:p.Gln64Ter" }, "RefSeq": { "hgvs": "NP_149349.2:p.Gln64Ter" } } } }, { "@id": "http://reg.genome.network/allele/PA2742018452", "coordinates": [ { "allele": "T", "end": 323, "referenceAllele": "C", "start": 322 } ], "gene": "http://reg.genome.network/gene/GN005320", "geneNCBI_id": 3373, "geneSymbol": "HYAL1", "hgvs": [ "NM_153282.3:c.190C>T" ], "proteinEffect": { "hgvs": "NP_695014.1:p.Gln64Ter", "hgvsWellDefined": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS700337" }, { "coordinates": [ { "allele": "T", "end": 109, "endIntronDirection": "-", "endIntronOffset": 143, "referenceAllele": "C", "start": 109, "startIntronDirection": "-", "startIntronOffset": 144 } ], "gene": "http://reg.genome.network/gene/GN005320", "geneNCBI_id": 3373, "geneSymbol": "HYAL1", "hgvs": [ "NM_153283.3:c.-213-144C>T" ], "proteinEffect": { "hgvs": "NP_695015.1:n.-213-144C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS700338" }, { "coordinates": [ { "allele": "T", "end": 109, "endIntronDirection": "-", "endIntronOffset": 561, "referenceAllele": "C", "start": 109, "startIntronDirection": "-", "startIntronOffset": 562 } ], "gene": "http://reg.genome.network/gene/GN005320", "geneNCBI_id": 3373, "geneSymbol": "HYAL1", "hgvs": [ "NM_153285.3:c.-26-562C>T" ], "proteinEffect": { "hgvs": "NP_695017.1:n.-26-562C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS700339" }, { "coordinates": [ { "allele": "T", "end": 808, "referenceAllele": "C", "start": 807 } ], "gene": "http://reg.genome.network/gene/GN005320", "geneNCBI_id": 3373, "geneSymbol": "HYAL1", "hgvs": [ "NR_047690.2:n.808C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS702541" }, { "@id": "http://reg.genome.network/allele/PA2830321110", "coordinates": [ { "allele": "T", "end": 617, "referenceAllele": "C", "start": 616 } ], "gene": "http://reg.genome.network/gene/GN005320", "geneNCBI_id": 3373, "geneSymbol": "HYAL1", "hgvs": [ "NM_153281.2:c.190C>T" ], "proteinEffect": { "hgvs": "NP_695013.1:p.Gln64Ter", "hgvsWellDefined": "NP_695013.1:p.Gln64_Trp435delinsThrPheArgGlyProAspMetThrIlePheTyrSerSerGlnLeuGlyThrTyrProTyrTyrThrProThrGlyGluProValPheGlyGlyLeuProGlnAsnAlaSerLeuIleAlaHisLeuAlaArgThrPheGlnAspIleLeuAlaAlaIleProAlaProAspPheSerGlyLeuAlaValIleAspTrpGluAlaTrpArgProArgTrpAlaPheAsnTrpAspThrLysAspIleTyrArgGlnArgSerArgAlaLeuValGlnAlaGlnHisProAspTrpProAlaProGlnValGluAlaValAlaGlnAspGlnPheGlnGlyAlaAlaArgAlaTrpMetAlaGlyThrLeuGlnLeuGlyArgAlaLeuArgProArgGlyLeuTrpGlyPheTyrGlyPheProAspCysTyrAsnTyrAspPheLeuSerProAsnTyrThrGlyGlnCysProSerGlyIleArgAlaGlnAsnAspGlnLeuGlyTrpLeuTrpGlyGlnSerArgAlaLeuTyrProSerIleTyrMetProAlaValLeuGluGlyThrGlyLysSerGlnMetTyrValGlnHisArgValAlaGluAlaPheArgValAlaValAlaAlaGlyAspProAsnLeuProValLeuProTyrValGlnIlePheTyrAspThrThrAsnHisPheLeuProLeuAspGluLeuGluHisSerLeuGlyGluSerAlaAlaGlnGlyAlaAlaGlyValValLeuTrpValSerTrpGluAsnThrArgThrLysGluSerCysGlnAlaIleLysGluTyrMetAspThrThrLeuGlyProPheIleLeuAsnValThrSerGlyAlaLeuLeuCysSerGlnAlaLeuCysSerGlyHisGlyArgCysValArgArgThrSerHisProLysAlaLeuLeuLeuLeuAsnProAlaSerPheSerIleGlnLeuThrProGlyGlyGlyProLeuSerLeuArgGlyAlaLeuSerLeuGluAspGlnAlaGlnMetAlaValGluPheLysCysArgCysTyrProGlyTrpGlnAlaProTrpCysGluArgLysSerMetTrpTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS729464" } ], "type": "nucleotide" }