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48, "startIntronDirection": "-", "startIntronOffset": 9 }, { "allele": "G", "end": 48, "endIntronDirection": "-", "endIntronOffset": 6, "referenceAllele": "T", "start": 48, "startIntronDirection": "-", "startIntronOffset": 7 }, { "allele": "C", "end": 48, "endIntronDirection": "-", "endIntronOffset": 5, "referenceAllele": "T", "start": 48, "startIntronDirection": "-", "startIntronOffset": 6 }, { "allele": "A", "end": 48, "endIntronDirection": "-", "endIntronOffset": 4, "referenceAllele": "T", "start": 48, "startIntronDirection": "-", "startIntronOffset": 5 }, { "allele": "T", "end": 49, "referenceAllele": "G", "start": 48 }, { "allele": "T", "end": 50, "referenceAllele": "G", "start": 49 }, { "allele": "T", "end": 125, "referenceAllele": "C", "start": 124 }, { "allele": "C", "end": 211, "referenceAllele": "A", "start": 210 }, { "allele": "G", "end": 244, "referenceAllele": "A", "start": 243 }, { "allele": "A", "end": 246, "referenceAllele": "G", "start": 245 }, { "allele": "A", "end": 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"ENST00000428835.5:c.[49-9C>G;49-7T>G;49-6T>C;49-5T>A;49G>T;50G>T;125C>T;211A>C;244A>G;246G>A;269G>A;272G>A;274C>G;277A>G;305G>A;312T>C;337T>C;372G>A;519T>C;527C>T;555T>C]" ], "proteinEffect": { "hgvs": "ENSP00000412654.1:p.Gly17Ter", "hgvsWellDefined": "ENSP00000412654.1:p.Gly17Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS290386" }, { "coordinates": [ { "allele": "G", "end": 238, "referenceAllele": "C", "start": 237 }, { "allele": "G", "end": 240, "referenceAllele": "T", "start": 239 }, { "allele": "C", "end": 241, "referenceAllele": "T", "start": 240 }, { "allele": "A", "end": 242, "referenceAllele": "T", "start": 241 }, { "allele": "T", "end": 247, "referenceAllele": "G", "start": 246 }, { "allele": "T", "end": 248, "referenceAllele": "G", "start": 247 }, { "allele": "T", "end": 323, "referenceAllele": "C", "start": 322 }, { "allele": "C", "end": 409, "referenceAllele": "A", "start": 408 }, { "allele": "G", "end": 442, "referenceAllele": "A", "start": 441 }, { 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"ENST00000498038.1:n.[238C>G;240T>G;241T>C;242T>A;247G>T;248G>T;323C>T;409A>C;442A>G;444G>A;467G>A;470G>A;472C>G;475A>G;503G>A;510T>C;535T>C;570G>A;717T>C;725C>T;753T>C]" ], "referenceSequence": "http://reg.genome.network/refseq/RS334132" }, { "coordinates": [ { "allele": "G", "end": 225, "referenceAllele": "C", "start": 224 }, { "allele": "G", "end": 227, "referenceAllele": "T", "start": 226 }, { "allele": "C", "end": 228, "referenceAllele": "T", "start": 227 }, { "allele": "A", "end": 229, "referenceAllele": "T", "start": 228 }, { "allele": "T", "end": 234, "referenceAllele": "G", "start": 233 }, { "allele": "T", "end": 235, "referenceAllele": "G", "start": 234 }, { "allele": "T", "end": 310, "referenceAllele": "C", "start": 309 }, { "allele": "C", "end": 396, "referenceAllele": "A", "start": 395 }, { "allele": "G", "end": 429, "referenceAllele": "A", "start": 428 }, { "allele": "A", "end": 431, "referenceAllele": "G", "start": 430 }, { "allele": "A", "end": 454, "referenceAllele": "G", "start": 453 }, { "allele": "A", "end": 457, "referenceAllele": "G", "start": 456 }, { "allele": "G", "end": 459, "referenceAllele": "C", "start": 458 }, { "allele": "G", "end": 462, "referenceAllele": "A", "start": 461 }, { "allele": "A", "end": 490, "referenceAllele": "G", "start": 489 }, { "allele": "C", "end": 497, "referenceAllele": "T", "start": 496 }, { "allele": "C", "end": 522, "referenceAllele": "T", "start": 521 }, { "allele": "A", "end": 557, "referenceAllele": "G", "start": 556 }, { "allele": "C", "end": 704, "referenceAllele": "T", "start": 703 }, { "allele": "T", "end": 712, "referenceAllele": "C", "start": 711 }, { "allele": "C", "end": 740, "referenceAllele": "T", "start": 739 } ], "gene": "http://reg.genome.network/gene/GN004940", "geneNCBI_id": 3115, "geneSymbol": "HLA-DPB1", "hgvs": [ "NM_002121.5:c.[109C>G;111T>G;112T>C;113T>A;118G>T;119G>T;194C>T;280A>C;313A>G;315G>A;338G>A;341G>A;343C>G;346A>G;374G>A;381T>C;406T>C;441G>A;588T>C;596C>T;624T>C]" ], "proteinEffect": { "hgvs": "NP_002112.3:p.[Leu37Val;Phe38His;Gly40Leu;Ala65Val;Ile94Leu;Met105Val;Met105Ile;Gly113Asp;Gly114Glu;Pro115Ala;Met116Val;Arg125Lys;Asn127=;Leu136=;Thr147=;Asp196=;Thr199Ile;Asp208=]", "hgvsWellDefined": "NP_002112.3:p.[Leu37_Phe38delinsValHis;Gly40Leu;Ala65Val;Ile94Leu;Met105Val;Ala258_Ter259insIleCysArgHisAsnTyrGluLeuAspGluAlaValThrLeuGlnArgArgValGlnProLysValAsnValSerProSerLysLysGlyProLeuGlnHisHisAsnLeuLeuValCysHisValThrAspPheTyrProGlySerIleGlnValArgTrpPheLeuAsnGlyGlnGluGluThrAlaGlyValValSerThrAsnLeuIleArgAsnGlyAspTrpThrPheGlnIleLeuValMetLeuGluMetThrProGlnGlnGlyAspValTyrIleCysGlnValGluHisThrSerLeuAspSerProValThrValGluTrpLysAlaGlnSerAspSerAlaArgSerLysThrLeuThrGlyAlaGlyGlyPheValLeuGlyLeuIleIleCysGlyValGlyIlePheMetHisArgArgSerLysLysValGlnArgGlySerAla]" }, "referenceSequence": "http://reg.genome.network/refseq/RS027446" }, { "coordinates": [ { "allele": "G", "end": 157, "referenceAllele": "C", "start": 156 }, { "allele": "G", "end": 159, "referenceAllele": "T", 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"end": 454, "referenceAllele": "T", "start": 453 }, { "allele": "A", "end": 489, "referenceAllele": "G", "start": 488 }, { "allele": "C", "end": 636, "referenceAllele": "T", "start": 635 }, { "allele": "T", "end": 644, "referenceAllele": "C", "start": 643 }, { "allele": "C", "end": 672, "referenceAllele": "T", "start": 671 } ], "gene": "http://reg.genome.network/gene/GN004940", "geneNCBI_id": 3115, "geneSymbol": "HLA-DPB1", "hgvs": [ "XM_006715078.2:c.[-204C>G;-202T>G;-201T>C;-200T>A;-195G>T;-194G>T;-119C>T;-33A>C;1A>G;3G>A;26G>A;29G>A;31C>G;34A>G;62G>A;69T>C;94T>C;129G>A;276T>C;284C>T;312T>C]" ], "proteinEffect": { "hgvs": "XP_006715141.1:p.[Met1Val;Met1Ile;Gly9Asp;Gly10_Pro11delinsGluAla;Met12Val;Arg21Lys;Asn23=;Leu32=;Thr43=;Asp92=;Thr95Ile;Asp104=]", "hgvsWellDefined": "XP_006715141.1:p.[Met1Val;Ala154_Ter155insIleCysArgHisAsnTyrGluLeuAspGluAlaValThrLeuGlnArgArgValGlnProLysValAsnValSerProSerLysLysGlyProLeuGlnHisHisAsnLeuLeuValCysHisValThrAspPheTyrProGlySerIleGlnValArgTrpPheLeuAsnGlyGlnGluGluThrAlaGlyValValSerThrAsnLeuIleArgAsnGlyAspTrpThrPheGlnIleLeuValMetLeuGluMetThrProGlnGlnGlyAspValTyrIleCysGlnValGluHisThrSerLeuAspSerProValThrValGluTrpLysAlaGlnSerAspSerAlaArgSerLysThrLeuThrGlyAlaGlyGlyPheValLeuGlyLeuIleIleCysGlyValGlyIlePheMetHisArgArgSerLysLysValGlnArgGlySerAla]" }, "referenceSequence": "http://reg.genome.network/refseq/RS071003" }, { "coordinates": [ { "allele": "G", "end": 161, "referenceAllele": "C", "start": 160 }, { "allele": "G", "end": 163, "referenceAllele": "T", "start": 162 }, { "allele": "C", "end": 164, "referenceAllele": "T", "start": 163 }, { "allele": "A", "end": 165, "referenceAllele": "T", "start": 164 }, { "allele": "T", "end": 170, "referenceAllele": "G", "start": 169 }, { "allele": "T", "end": 171, "referenceAllele": "G", 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"end": 676, "referenceAllele": "T", "start": 675 } ], "gene": "http://reg.genome.network/gene/GN004940", "geneNCBI_id": 3115, "geneSymbol": "HLA-DPB1", "hgvs": [ "NM_002121.6:c.[109C>G;111T>G;112T>C;113T>A;118G>T;119G>T;194C>T;280A>C;313A>G;315G>A;338G>A;341G>A;343C>G;346A>G;374G>A;381T>C;406T>C;441G>A;588T>C;596C>T;624T>C]" ], "proteinEffect": { "hgvs": "NP_002112.3:p.[Leu37Gly;Phe38His;Gly40Leu;Ala65Val;Ile94Leu;Met105Glu;Gly113Asp;Gly114Glu;Pro115Ala;Met116Val;Arg125Lys;Asn127=;Leu136=;Thr147=;Asp196=;Thr199Ile;Asp208=]", "hgvsWellDefined": "NP_002112.3:p.[Leu37_Phe38delinsGlyHis;Gly40Leu;Ala65Val;Ile94Leu;Met105Glu;Gly113_Met116delinsAspGluAlaVal;Arg125Lys;Thr199Ile]" }, "referenceSequence": "http://reg.genome.network/refseq/RS665363", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000418931.7:c.[109C>G;111T>G;112T>C;113T>A;118G>T;119G>T;194C>T;280A>C;313A>G;315G>A;338G>A;341G>A;343C>G;346A>G;374G>A;381T>C;406T>C;441G>A;588T>C;596C>T;624T>C]" }, "RefSeq": { "hgvs": "NM_002121.6:c.[109C>G;111T>G;112T>C;113T>A;118G>T;119G>T;194C>T;280A>C;313A>G;315G>A;338G>A;341G>A;343C>G;346A>G;374G>A;381T>C;406T>C;441G>A;588T>C;596C>T;624T>C]" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000408146.2:p.[Leu37Gly;Phe38His;Gly40Leu;Ala65Val;Ile94Leu;Met105Glu;Gly113Asp;Gly114Glu;Pro115Ala;Met116Val;Arg125Lys;Asn127=;Leu136=;Thr147=;Asp196=;Thr199Ile;Asp208=]" }, "RefSeq": { "hgvs": "NP_002112.3:p.[Leu37Gly;Phe38His;Gly40Leu;Ala65Val;Ile94Leu;Met105Glu;Gly113Asp;Gly114Glu;Pro115Ala;Met116Val;Arg125Lys;Asn127=;Leu136=;Thr147=;Asp196=;Thr199Ile;Asp208=]" } } } } ], "type": "nucleotide" }