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"HYAL1", "hgvs": [ "XM_011533669.1:c.658C>T" ], "proteinEffect": { "hgvs": "XP_011531971.1:p.Gln220Ter", "hgvsWellDefined": "XP_011531971.1:p.Gln220_Trp435delinsCysProSerGlyIleArgAlaGlnAsnAspGlnLeuGlyTrpLeuTrpGlyGlnSerArgAlaLeuTyrProSerIleTyrMetProAlaValLeuGluGlyThrGlyLysSerGlnMetTyrValGlnHisArgValAlaGluAlaPheArgValAlaValAlaAlaGlyAspProAsnLeuProValLeuProTyrValGlnIlePheTyrAspThrThrAsnHisPheLeuProLeuAspGluLeuGluHisSerLeuGlyGluSerAlaAlaGlnGlyAlaAlaGlyValValLeuTrpValSerTrpGluAsnThrArgThrLysGluSerCysGlnAlaIleLysGluTyrMetAspThrThrLeuGlyProPheIleLeuAsnValThrSerGlyAlaLeuLeuCysSerGlnAlaLeuCysSerGlyHisGlyArgCysValArgArgThrSerHisProLysAlaLeuLeuLeuLeuAsnProAlaSerPheSerIleGlnLeuThrProGlyGlyGlyProLeuSerLeuArgGlyAlaLeuSerLeuGluAspGlnAlaGlnMetAlaValGluPheLysCysArgCysTyrProGlyTrpGlnAlaProTrpCysGluArgLysSerMetTrpTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS100690" }, { "coordinates": [ { "allele": "T", "end": 1208, "referenceAllele": "C", "start": 1207 } ], "gene": 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"XP_011531971.1:p.Gln220_Trp435delinsCysProSerGlyIleArgAlaGlnAsnAspGlnLeuGlyTrpLeuTrpGlyGlnSerArgAlaLeuTyrProSerIleTyrMetProAlaValLeuGluGlyThrGlyLysSerGlnMetTyrValGlnHisArgValAlaGluAlaPheArgValAlaValAlaAlaGlyAspProAsnLeuProValLeuProTyrValGlnIlePheTyrAspThrThrAsnHisPheLeuProLeuAspGluLeuGluHisSerLeuGlyGluSerAlaAlaGlnGlyAlaAlaGlyValValLeuTrpValSerTrpGluAsnThrArgThrLysGluSerCysGlnAlaIleLysGluTyrMetAspThrThrLeuGlyProPheIleLeuAsnValThrSerGlyAlaLeuLeuCysSerGlnAlaLeuCysSerGlyHisGlyArgCysValArgArgThrSerHisProLysAlaLeuLeuLeuLeuAsnProAlaSerPheSerIleGlnLeuThrProGlyGlyGlyProLeuSerLeuArgGlyAlaLeuSerLeuGluAspGlnAlaGlnMetAlaValGluPheLysCysArgCysTyrProGlyTrpGlnAlaProTrpCysGluArgLysSerMetTrpTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS551334" }, { "@id": "http://reg.genome.network/allele/PA2830099530", "coordinates": [ { "allele": "T", "end": 791, "referenceAllele": "C", "start": 790 } ], "gene": "http://reg.genome.network/gene/GN005320", "geneNCBI_id": 3373, "geneSymbol": "HYAL1", "hgvs": [ "NM_033159.4:c.658C>T" ], "proteinEffect": { "hgvs": "NP_149349.2:p.Gln220Ter", "hgvsWellDefined": "NP_149349.2:p.Gln220_Trp435delinsCysProSerGlyIleArgAlaGlnAsnAspGlnLeuGlyTrpLeuTrpGlyGlnSerArgAlaLeuTyrProSerIleTyrMetProAlaValLeuGluGlyThrGlyLysSerGlnMetTyrValGlnHisArgValAlaGluAlaPheArgValAlaValAlaAlaGlyAspProAsnLeuProValLeuProTyrValGlnIlePheTyrAspThrThrAsnHisPheLeuProLeuAspGluLeuGluHisSerLeuGlyGluSerAlaAlaGlnGlyAlaAlaGlyValValLeuTrpValSerTrpGluAsnThrArgThrLysGluSerCysGlnAlaIleLysGluTyrMetAspThrThrLeuGlyProPheIleLeuAsnValThrSerGlyAlaLeuLeuCysSerGlnAlaLeuCysSerGlyHisGlyArgCysValArgArgThrSerHisProLysAlaLeuLeuLeuLeuAsnProAlaSerPheSerIleGlnLeuThrProGlyGlyGlyProLeuSerLeuArgGlyAlaLeuSerLeuGluAspGlnAlaGlnMetAlaValGluPheLysCysArgCysTyrProGlyTrpGlnAlaProTrpCysGluArgLysSerMetTrpTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS671514", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000395144.7:c.658C>T" }, "RefSeq": { "hgvs": "NM_033159.4:c.658C>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000378576.2:p.Gln220Ter" }, "RefSeq": { "hgvs": "NP_149349.2:p.Gln220Ter" } } } }, { "@id": "http://reg.genome.network/allele/PA2830321726", "coordinates": [ { "allele": "T", "end": 791, "referenceAllele": "C", "start": 790 } ], "gene": "http://reg.genome.network/gene/GN005320", "geneNCBI_id": 3373, "geneSymbol": "HYAL1", "hgvs": [ "NM_153282.3:c.658C>T" ], "proteinEffect": { "hgvs": "NP_695014.1:p.Gln220Ter", "hgvsWellDefined": "NP_695014.1:p.Gln220_Trp405delinsCysProSerGlyIleArgAlaGlnAsnAspGlnLeuGlyTrpLeuTrpGlyGlnSerArgAlaLeuTyrProSerIleTyrMetProAlaValLeuGluGlyThrGlyLysSerGlnMetTyrValGlnHisArgValAlaGluAlaPheArgValAlaValAlaAlaGlyAspProAsnLeuProValLeuProTyrValGlnIlePheTyrAspThrThrAsnHisPheLeuProLeuGluSerCysGlnAlaIleLysGluTyrMetAspThrThrLeuGlyProPheIleLeuAsnValThrSerGlyAlaLeuLeuCysSerGlnAlaLeuCysSerGlyHisGlyArgCysValArgArgThrSerHisProLysAlaLeuLeuLeuLeuAsnProAlaSerPheSerIleGlnLeuThrProGlyGlyGlyProLeuSerLeuArgGlyAlaLeuSerLeuGluAspGlnAlaGlnMetAlaValGluPheLysCysArgCysTyrProGlyTrpGlnAlaProTrpCysGluArgLysSerMetTrpTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS700337" }, { "@id": "http://reg.genome.network/allele/PA2742018454", "coordinates": [ { "allele": "T", "end": 434, "referenceAllele": "C", "start": 433 } ], "gene": "http://reg.genome.network/gene/GN005320", "geneNCBI_id": 3373, "geneSymbol": "HYAL1", "hgvs": [ "NM_153283.3:c.112C>T" ], "proteinEffect": { "hgvs": "NP_695015.1:p.Gln38Ter", "hgvsWellDefined": "NP_695015.1:p.Gln38_Trp253delinsCysProSerGlyIleArgAlaGlnAsnAspGlnLeuGlyTrpLeuTrpGlyGlnSerArgAlaLeuTyrProSerIleTyrMetProAlaValLeuGluGlyThrGlyLysSerGlnMetTyrValGlnHisArgValAlaGluAlaPheArgValAlaValAlaAlaGlyAspProAsnLeuProValLeuProTyrValGlnIlePheTyrAspThrThrAsnHisPheLeuProLeuAspGluLeuGluHisSerLeuGlyGluSerAlaAlaGlnGlyAlaAlaGlyValValLeuTrpValSerTrpGluAsnThrArgThrLysGluSerCysGlnAlaIleLysGluTyrMetAspThrThrLeuGlyProPheIleLeuAsnValThrSerGlyAlaLeuLeuCysSerGlnAlaLeuCysSerGlyHisGlyArgCysValArgArgThrSerHisProLysAlaLeuLeuLeuLeuAsnProAlaSerPheSerIleGlnLeuThrProGlyGlyGlyProLeuSerLeuArgGlyAlaLeuSerLeuGluAspGlnAlaGlnMetAlaValGluPheLysCysArgCysTyrProGlyTrpGlnAlaProTrpCysGluArgLysSerMetTrpTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS700338" }, { "coordinates": [ { "allele": "T", "end": 109, "endIntronDirection": "-", "endIntronOffset": 93, "referenceAllele": "C", "start": 109, "startIntronDirection": "-", "startIntronOffset": 94 } ], "gene": "http://reg.genome.network/gene/GN005320", "geneNCBI_id": 3373, "geneSymbol": "HYAL1", "hgvs": [ "NM_153285.3:c.-26-94C>T" ], "proteinEffect": { "hgvs": "NP_695017.1:n.-26-94C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS700339" }, { "coordinates": [ { "allele": "T", "end": 1276, "referenceAllele": "C", "start": 1275 } ], "gene": "http://reg.genome.network/gene/GN005320", "geneNCBI_id": 3373, "geneSymbol": "HYAL1", "hgvs": [ "NR_047690.2:n.1276C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS702541" }, { "@id": "http://reg.genome.network/allele/PA2830321275", "coordinates": [ { "allele": "T", "end": 1085, "referenceAllele": "C", "start": 1084 } ], "gene": "http://reg.genome.network/gene/GN005320", "geneNCBI_id": 3373, "geneSymbol": "HYAL1", "hgvs": [ "NM_153281.2:c.658C>T" ], "proteinEffect": { "hgvs": "NP_695013.1:p.Gln220Ter", "hgvsWellDefined": "NP_695013.1:p.Gln220_Trp435delinsCysProSerGlyIleArgAlaGlnAsnAspGlnLeuGlyTrpLeuTrpGlyGlnSerArgAlaLeuTyrProSerIleTyrMetProAlaValLeuGluGlyThrGlyLysSerGlnMetTyrValGlnHisArgValAlaGluAlaPheArgValAlaValAlaAlaGlyAspProAsnLeuProValLeuProTyrValGlnIlePheTyrAspThrThrAsnHisPheLeuProLeuAspGluLeuGluHisSerLeuGlyGluSerAlaAlaGlnGlyAlaAlaGlyValValLeuTrpValSerTrpGluAsnThrArgThrLysGluSerCysGlnAlaIleLysGluTyrMetAspThrThrLeuGlyProPheIleLeuAsnValThrSerGlyAlaLeuLeuCysSerGlnAlaLeuCysSerGlyHisGlyArgCysValArgArgThrSerHisProLysAlaLeuLeuLeuLeuAsnProAlaSerPheSerIleGlnLeuThrProGlyGlyGlyProLeuSerLeuArgGlyAlaLeuSerLeuGluAspGlnAlaGlnMetAlaValGluPheLysCysArgCysTyrProGlyTrpGlnAlaProTrpCysGluArgLysSerMetTrpTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS729464" } ], "type": "nucleotide" }