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}, "referenceSequence": "http://reg.genome.network/refseq/RS264890" }, { "coordinates": [ { "allele": "T", "end": 1843, "referenceAllele": "C", "start": 1842 } ], "gene": "http://reg.genome.network/gene/GN018708", "geneNCBI_id": 23426, "geneSymbol": "GRIP1", "hgvs": [ "ENST00000398016.7:c.1774C>T" ], "proteinEffect": { "hgvs": "ENSP00000381098.3:p.Gln592Ter", "hgvsWellDefined": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS278094" }, { "coordinates": [ { "allele": "T", "end": 1579, "referenceAllele": "C", "start": 1578 } ], "gene": "http://reg.genome.network/gene/GN018708", "geneNCBI_id": 23426, "geneSymbol": "GRIP1", "hgvs": [ "ENST00000536215.5:c.1450C>T" ], "proteinEffect": { "hgvs": "ENSP00000446011.1:p.Gln484Ter", "hgvsWellDefined": "ENSP00000446011.1:p.Gln484Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS360150" }, { "coordinates": [ { "allele": "T", "end": 1374, "referenceAllele": "C", "start": 1373 } ], "gene": "http://reg.genome.network/gene/GN018708", "geneNCBI_id": 23426, "geneSymbol": "GRIP1", "hgvs": [ "ENST00000538164.5:c.1374C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS361168" }, { "coordinates": [ { "allele": "T", "end": 2015, "referenceAllele": "C", "start": 2014 } ], "gene": "http://reg.genome.network/gene/GN018708", "geneNCBI_id": 23426, "geneSymbol": "GRIP1", "hgvs": [ 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}, "referenceSequence": "http://reg.genome.network/refseq/RS015838" }, { "@id": "http://reg.genome.network/allele/PA2829968363", "coordinates": [ { "allele": "T", "end": 2015, "referenceAllele": "C", "start": 2014 } ], "gene": "http://reg.genome.network/gene/GN018708", "geneNCBI_id": 23426, "geneSymbol": "GRIP1", "hgvs": [ "NM_021150.3:c.1774C>T" ], "proteinEffect": { "hgvs": "NP_066973.2:p.Gln592Ter", "hgvsWellDefined": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS065869" }, { "coordinates": [ { "allele": "T", "end": 2012, "referenceAllele": "C", "start": 2011 } ], "gene": "http://reg.genome.network/gene/GN018708", "geneNCBI_id": 23426, "geneSymbol": "GRIP1", "hgvs": [ "XM_005268757.3:c.1852C>T" ], "proteinEffect": { "hgvs": "XP_005268814.1:p.Gln618Ter", "hgvsWellDefined": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS105047" }, { "coordinates": [ { "allele": "T", "end": 2052, "referenceAllele": "C", "start": 2051 } ], "gene": "http://reg.genome.network/gene/GN018708", "geneNCBI_id": 23426, "geneSymbol": "GRIP1", "hgvs": [ "XM_011538091.1:c.1999C>T" ], "proteinEffect": { "hgvs": "XP_011536393.1:p.Gln667Ter", "hgvsWellDefined": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS105049" }, { "coordinates": [ { "allele": "T", "end": 2144, "referenceAllele": "C", "start": 2143 } ], "gene": "http://reg.genome.network/gene/GN018708", "geneNCBI_id": 23426, "geneSymbol": "GRIP1", "hgvs": [ "XM_011538093.1:c.1930C>T" ], "proteinEffect": { "hgvs": "XP_011536395.1:p.Gln644Ter", "hgvsWellDefined": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS105050" }, { "coordinates": [ { "allele": "T", "end": 1906, "referenceAllele": "C", "start": 1905 } ], "gene": "http://reg.genome.network/gene/GN018708", "geneNCBI_id": 23426, "geneSymbol": "GRIP1", "hgvs": [ "XM_011538094.1:c.1762C>T" ], "proteinEffect": { "hgvs": "XP_011536396.1:p.Gln588Ter", "hgvsWellDefined": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS105051" }, { "@id": "http://reg.genome.network/allele/PA2828217931", "coordinates": [ { "allele": "T", "end": 2102, "referenceAllele": "C", "start": 2101 } ], "gene": "http://reg.genome.network/gene/GN018708", "geneNCBI_id": 23426, "geneSymbol": "GRIP1", "hgvs": [ "NM_001366722.1:c.1930C>T" ], "proteinEffect": { "hgvs": "NP_001353651.1:p.Gln644Ter", "hgvsWellDefined": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS524794", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000359742.9:c.1930C>T" }, "RefSeq": { "hgvs": "NM_001366722.1:c.1930C>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000352780.4:p.Gln644Ter" }, "RefSeq": { "hgvs": "NP_001353651.1:p.Gln644Ter" } } } }, { "@id": "http://reg.genome.network/allele/PA2828218285", "coordinates": [ { "allele": "T", "end": 1933, "referenceAllele": "C", "start": 1932 } ], "gene": "http://reg.genome.network/gene/GN018708", "geneNCBI_id": 23426, "geneSymbol": "GRIP1", "hgvs": [ "NM_001366723.1:c.1849C>T" ], "proteinEffect": { "hgvs": "NP_001353652.1:p.Gln617Ter", "hgvsWellDefined": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS524795" }, { "@id": "http://reg.genome.network/allele/PA2828218644", "coordinates": [ { "allele": "T", "end": 1936, "referenceAllele": "C", "start": 1935 } ], "gene": "http://reg.genome.network/gene/GN018708", "geneNCBI_id": 23426, "geneSymbol": "GRIP1", "hgvs": [ "NM_001366724.1:c.1852C>T" ], "proteinEffect": { "hgvs": "NP_001353653.1:p.Gln618Ter", "hgvsWellDefined": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS524796" }, { "coordinates": [ { "allele": "T", "end": 2091, "referenceAllele": "C", "start": 2090 } ], "gene": "http://reg.genome.network/gene/GN018708", "geneNCBI_id": 23426, "geneSymbol": "GRIP1", "hgvs": [ "XM_005268754.4:c.1933C>T" ], "proteinEffect": { "hgvs": "XP_005268811.1:p.Gln645Ter", "hgvsWellDefined": "XP_005268811.1:p.Gln646_Leu1129delinsCysGluAspLeuValLysLeuLysIleArgLysAspGluAspAsnSerAspGluGlnGluSerSerGlyAlaIleIleTyrThrValGluLeuLysArgTyrGlyGlyProLeuGlyIleThrIleSerGlyThrGluGluProPheAspProIleIleIleSerSerLeuThrLysGlyGlyLeuAlaGluArgThrGlyAlaIleHisIleGlyAspArgIleLeuAlaIleAsnSerSerSerLeuLysGlyLysProLeuSerGluAlaIleHisLeuLeuGlnMetAlaGlyGluThrValThrLeuLysIleLysLysGlnThrAspAlaGlnSerAlaSerSerProLysLysPheProIleSerSerHisLeuSerAspLeuGlyAspValGluGluAspSerSerProAlaGlnLysProGlyLysLeuSerAspMetTyrProSerThrValProSerValAspSerAlaValAspSerTrpAspGlySerAlaIleAspThrSerTyrGlyThrGlnGlyThrSerPheGlnAlaSerGlyTyrAsnPheAsnThrTyrAspTrpArgSerProLysGlnArgGlySerLeuSerProValThrLysProArgSerGlnThrTyrProAspValGlyLeuSerTyrGluAspTrpAspArgSerThrAlaSerGlyPheAlaGlyAlaAlaAspSerAlaGluThrGluGlnGluGluAsnPheTrpSerGlnAlaLeuGluAspLeuGluThrCysGlyGlnSerGlyIleLeuArgGluLeuGluGluLysAlaAspArgArgValSerLeuArgAsnMetThrLeuLeuAlaThrIleMetSerGlySerThrMetSerLeuAsnHisGluAlaProThrProArgSerGlnLeuGlyArgGlnAlaSerPheGlnGluArgSerSerSerArgProHisTyrSerGlnThrThrArgSerAsnThrLeuProSerAspValGlyArgLysSerValThrLeuArgLysMetLysGlnGluIleLysGluIleMetSerProThrProValGluLeuHisLysValThrLeuTyrLysAspSerAspMetGluAspPheGlyPheSerValAlaAspGlyLeuLeuGluLysGlyValTyrValLysAsnIleArgProAlaGlyProGlyAspLeuGlyGlyLeuLysProTyrAspArgLeuLeuGlnValAsnHisValArgThrArgAspPheAspCysCysLeuValValProLeuIleAlaGluSerGlyAsnLysLeuAspLeuValIleSerArgAsnProLeuAlaSerGlnLysSerIleAspGlnGlnSerLeuProGlyAspTrpSerGluGlnAsnSerAlaPhePheGlnGlnProSerHisGlyGlyAsnLeuGluThrArgGluProThrAsnThrLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS536646" }, { "coordinates": [ { "allele": "T", "end": 2010, "referenceAllele": "C", "start": 2009 } ], "gene": "http://reg.genome.network/gene/GN018708", "geneNCBI_id": 23426, "geneSymbol": "GRIP1", "hgvs": [ "XM_005268757.4:c.1852C>T" ], "proteinEffect": { "hgvs": "XP_005268814.1:p.Gln618Ter", "hgvsWellDefined": "XP_005268814.1:p.Gln619_Leu1102delinsCysGluAspLeuValLysLeuLysIleArgLysAspGluAspAsnSerAspGluGlnGluSerSerGlyAlaIleIleTyrThrValGluLeuLysArgTyrGlyGlyProLeuGlyIleThrIleSerGlyThrGluGluProPheAspProIleIleIleSerSerLeuThrLysGlyGlyLeuAlaGluArgThrGlyAlaIleHisIleGlyAspArgIleLeuAlaIleAsnSerSerSerLeuLysGlyLysProLeuSerGluAlaIleHisLeuLeuGlnMetAlaGlyGluThrValThrLeuLysIleLysLysGlnThrAspAlaGlnSerAlaSerSerProLysLysPheProIleSerSerHisLeuSerAspLeuGlyAspValGluGluAspSerSerProAlaGlnLysProGlyLysLeuSerAspMetTyrProSerThrValProSerValAspSerAlaValAspSerTrpAspGlySerAlaIleAspThrSerTyrGlyThrGlnGlyThrSerPheGlnAlaSerGlyTyrAsnPheAsnThrTyrAspTrpArgSerProLysGlnArgGlySerLeuSerProValThrLysProArgSerGlnThrTyrProAspValGlyLeuSerTyrGluAspTrpAspArgSerThrAlaSerGlyPheAlaGlyAlaAlaAspSerAlaGluThrGluGlnGluGluAsnPheTrpSerGlnAlaLeuGluAspLeuGluThrCysGlyGlnSerGlyIleLeuArgGluLeuGluGluLysAlaAspArgArgValSerLeuArgAsnMetThrLeuLeuAlaThrIleMetSerGlySerThrMetSerLeuAsnHisGluAlaProThrProArgSerGlnLeuGlyArgGlnAlaSerPheGlnGluArgSerSerSerArgProHisTyrSerGlnThrThrArgSerAsnThrLeuProSerAspValGlyArgLysSerValThrLeuArgLysMetLysGlnGluIleLysGluIleMetSerProThrProValGluLeuHisLysValThrLeuTyrLysAspSerAspMetGluAspPheGlyPheSerValAlaAspGlyLeuLeuGluLysGlyValTyrValLysAsnIleArgProAlaGlyProGlyAspLeuGlyGlyLeuLysProTyrAspArgLeuLeuGlnValAsnHisValArgThrArgAspPheAspCysCysLeuValValProLeuIleAlaGluSerGlyAsnLysLeuAspLeuValIleSerArgAsnProLeuAlaSerGlnLysSerIleAspGlnGlnSerLeuProGlyAspTrpSerGluGlnAsnSerAlaPhePheGlnGlnProSerHisGlyGlyAsnLeuGluThrArgGluProThrAsnThrLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS536647" }, { "coordinates": [ { "allele": "T", "end": 2440, "referenceAllele": "C", "start": 2439 } ], "gene": "http://reg.genome.network/gene/GN018708", "geneNCBI_id": 23426, "geneSymbol": "GRIP1", "hgvs": [ "XM_017019098.1:c.2155C>T" ], "proteinEffect": { "hgvs": "XP_016874587.1:p.Gln719Ter", "hgvsWellDefined": "XP_016874587.1:p.Gln720_Leu1188delinsCysGluAspLeuValLysLeuLysIleArgLysAspGluAspAsnSerAspGluGlnGluSerSerGlyAlaIleIleTyrThrValGluLeuLysArgTyrGlyGlyProLeuGlyIleThrIleSerGlyThrGluGluProPheAspProIleIleIleSerSerLeuThrLysGlyGlyLeuAlaGluArgThrGlyAlaIleHisIleGlyAspArgIleLeuAlaIleAsnSerSerSerLeuLysGlyLysProLeuSerGluAlaIleHisLeuLeuGlnMetAlaGlyGluThrValThrLeuLysIleLysLysGlnThrAspAlaGlnSerAlaSerSerProLysLysPheProIleSerSerHisLeuSerAspLeuGlyAspValGluGluAspSerSerProAlaGlnLysProGlyLysLeuSerAspMetTyrProSerThrValProSerValAspSerAlaValAspSerTrpAspGlySerAlaIleAspThrSerTyrGlyThrGlnGlyThrSerPheGlnAlaSerGlyTyrAsnPheAsnThrTyrAspTrpArgSerProLysGlnArgGlySerLeuSerProValThrLysProArgSerGlnThrTyrProAspValGlyLeuSerTyrGluAspTrpAspArgSerThrAlaSerGlyPheAlaGlyAlaAlaAspSerAlaGluThrGluGlnGluGluAsnPheTrpSerGlnAlaLeuGluAspLeuGluThrCysGlyGlnSerGlyIleLeuArgGluLeuGluAlaThrIleMetSerGlySerThrMetSerLeuAsnHisGluAlaProThrProArgSerGlnLeuGlyArgGlnAlaSerPheGlnGluArgSerSerSerArgProHisTyrSerGlnThrThrArgSerAsnThrLeuProSerAspValGlyArgLysSerValThrLeuArgLysMetLysGlnGluIleLysGluIleMetSerProThrProValGluLeuHisLysValThrLeuTyrLysAspSerAspMetGluAspPheGlyPheSerValAlaAspGlyLeuLeuGluLysGlyValTyrValLysAsnIleArgProAlaGlyProGlyAspLeuGlyGlyLeuLysProTyrAspArgLeuLeuGlnValAsnHisValArgThrArgAspPheAspCysCysLeuValValProLeuIleAlaGluSerGlyAsnLysLeuAspLeuValIleSerArgAsnProLeuAlaSerGlnLysSerIleAspGlnGlnSerLeuProGlyAspTrpSerGluGlnAsnSerAlaPhePheGlnGlnProSerHisGlyGlyAsnLeuGluThrArgGluProThrAsnThrLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS570890" }, { "coordinates": [ { "allele": "T", "end": 5099, "referenceAllele": "C", "start": 5098 } ], "gene": "http://reg.genome.network/gene/GN018708", "geneNCBI_id": 23426, "geneSymbol": "GRIP1", "hgvs": [ "XM_017019099.1:c.2008C>T" ], "proteinEffect": { "hgvs": "XP_016874588.1:p.Gln670Ter", "hgvsWellDefined": "XP_016874588.1:p.Gln671_Leu1154delinsCysGluAspLeuValLysLeuLysIleArgLysAspGluAspAsnSerAspGluGlnGluSerSerGlyAlaIleIleTyrThrValGluLeuLysArgTyrGlyGlyProLeuGlyIleThrIleSerGlyThrGluGluProPheAspProIleIleIleSerSerLeuThrLysGlyGlyLeuAlaGluArgThrGlyAlaIleHisIleGlyAspArgIleLeuAlaIleAsnSerSerSerLeuLysGlyLysProLeuSerGluAlaIleHisLeuLeuGlnMetAlaGlyGluThrValThrLeuLysIleLysLysGlnThrAspAlaGlnSerAlaSerSerProLysLysPheProIleSerSerHisLeuSerAspLeuGlyAspValGluGluAspSerSerProAlaGlnLysProGlyLysLeuSerAspMetTyrProSerThrValProSerValAspSerAlaValAspSerTrpAspGlySerAlaIleAspThrSerTyrGlyThrGlnGlyThrSerPheGlnAlaSerGlyTyrAsnPheAsnThrTyrAspTrpArgSerProLysGlnArgGlySerLeuSerProValThrLysProArgSerGlnThrTyrProAspValGlyLeuSerTyrGluAspTrpAspArgSerThrAlaSerGlyPheAlaGlyAlaAlaAspSerAlaGluThrGluGlnGluGluAsnPheTrpSerGlnAlaLeuGluAspLeuGluThrCysGlyGlnSerGlyIleLeuArgGluLeuGluGluLysAlaAspArgArgValSerLeuArgAsnMetThrLeuLeuAlaThrIleMetSerGlySerThrMetSerLeuAsnHisGluAlaProThrProArgSerGlnLeuGlyArgGlnAlaSerPheGlnGluArgSerSerSerArgProHisTyrSerGlnThrThrArgSerAsnThrLeuProSerAspValGlyArgLysSerValThrLeuArgLysMetLysGlnGluIleLysGluIleMetSerProThrProValGluLeuHisLysValThrLeuTyrLysAspSerAspMetGluAspPheGlyPheSerValAlaAspGlyLeuLeuGluLysGlyValTyrValLysAsnIleArgProAlaGlyProGlyAspLeuGlyGlyLeuLysProTyrAspArgLeuLeuGlnValAsnHisValArgThrArgAspPheAspCysCysLeuValValProLeuIleAlaGluSerGlyAsnLysLeuAspLeuValIleSerArgAsnProLeuAlaSerGlnLysSerIleAspGlnGlnSerLeuProGlyAspTrpSerGluGlnAsnSerAlaPhePheGlnGlnProSerHisGlyGlyAsnLeuGluThrArgGluProThrAsnThrLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS570891" }, { "coordinates": [ { "allele": "T", "end": 2284, "referenceAllele": "C", "start": 2283 } ], "gene": "http://reg.genome.network/gene/GN018708", "geneNCBI_id": 23426, "geneSymbol": "GRIP1", "hgvs": [ "XM_017019100.1:c.1999C>T" ], "proteinEffect": { "hgvs": "XP_016874589.1:p.Gln667Ter", "hgvsWellDefined": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS570892" }, { "@id": "http://reg.genome.network/allele/PA2826136747", "coordinates": [ { "allele": "T", "end": 1946, "referenceAllele": "C", "start": 1945 } ], "gene": "http://reg.genome.network/gene/GN018708", "geneNCBI_id": 23426, "geneSymbol": "GRIP1", "hgvs": [ "NM_001178074.2:c.1774C>T" ], "proteinEffect": { "hgvs": "NP_001171545.1:p.Gln592Ter", "hgvsWellDefined": "NP_001171545.1:p.Gln593_Leu1061delinsCysGluAspLeuValLysLeuLysIleArgLysAspGluAspAsnSerAspGluGlnGluSerSerGlyAlaIleIleTyrThrValGluLeuLysArgTyrGlyGlyProLeuGlyIleThrIleSerGlyThrGluGluProPheAspProIleIleIleSerSerLeuThrLysGlyGlyLeuAlaGluArgThrGlyAlaIleHisIleGlyAspArgIleLeuAlaIleAsnSerSerSerLeuLysGlyLysProLeuSerGluAlaIleHisLeuLeuGlnMetAlaGlyGluThrValThrLeuLysIleLysLysGlnThrAspAlaGlnSerAlaSerSerProLysLysPheProIleSerSerHisLeuSerAspLeuGlyAspValGluGluAspSerSerProAlaGlnLysProGlyLysLeuSerAspMetTyrProSerThrValProSerValAspSerAlaValAspSerTrpAspGlySerAlaIleAspThrSerTyrGlyThrGlnGlyThrSerPheGlnAlaSerGlyTyrAsnPheAsnThrTyrAspTrpArgSerProLysGlnArgGlySerLeuSerProValThrLysProArgSerGlnThrTyrProAspValGlyLeuSerTyrGluAspTrpAspArgSerThrAlaSerGlyPheAlaGlyAlaAlaAspSerAlaGluThrGluGlnGluGluAsnPheTrpSerGlnAlaLeuGluAspLeuGluThrCysGlyGlnSerGlyIleLeuArgGluLeuGluAlaThrIleMetSerGlySerThrMetSerLeuAsnHisGluAlaProThrProArgSerGlnLeuGlyArgGlnAlaSerPheGlnGluArgSerSerSerArgProHisTyrSerGlnThrThrArgSerAsnThrLeuProSerAspValGlyArgLysSerValThrLeuArgLysMetLysGlnGluIleLysGluIleMetSerProThrProValGluLeuHisLysValThrLeuTyrLysAspSerAspMetGluAspPheGlyPheSerValAlaAspGlyLeuLeuGluLysGlyValTyrValLysAsnIleArgProAlaGlyProGlyAspLeuGlyGlyLeuLysProTyrAspArgLeuLeuGlnValAsnHisValArgThrArgAspPheAspCysCysLeuValValProLeuIleAlaGluSerGlyAsnLysLeuAspLeuValIleSerArgAsnProLeuAlaSerGlnLysSerIleAspGlnGlnSerLeuProGlyAspTrpSerGluGlnAsnSerAlaPhePheGlnGlnProSerHisGlyGlyAsnLeuGluThrArgGluProThrAsnThrLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS678930" }, { "@id": "http://reg.genome.network/allele/PA2829968363", "coordinates": [ { "allele": "T", "end": 1946, "referenceAllele": "C", "start": 1945 } ], "gene": "http://reg.genome.network/gene/GN018708", "geneNCBI_id": 23426, "geneSymbol": "GRIP1", "hgvs": [ "NM_021150.4:c.1774C>T" ], "proteinEffect": { "hgvs": "NP_066973.2:p.Gln592Ter", "hgvsWellDefined": "NP_066973.2:p.Gln593_Leu1076delinsCysGluAspLeuValLysLeuLysIleArgLysAspGluAspAsnSerAspGluGlnGluSerSerGlyAlaIleIleTyrThrValGluLeuLysArgTyrGlyGlyProLeuGlyIleThrIleSerGlyThrGluGluProPheAspProIleIleIleSerSerLeuThrLysGlyGlyLeuAlaGluArgThrGlyAlaIleHisIleGlyAspArgIleLeuAlaIleAsnSerSerSerLeuLysGlyLysProLeuSerGluAlaIleHisLeuLeuGlnMetAlaGlyGluThrValThrLeuLysIleLysLysGlnThrAspAlaGlnSerAlaSerSerProLysLysPheProIleSerSerHisLeuSerAspLeuGlyAspValGluGluAspSerSerProAlaGlnLysProGlyLysLeuSerAspMetTyrProSerThrValProSerValAspSerAlaValAspSerTrpAspGlySerAlaIleAspThrSerTyrGlyThrGlnGlyThrSerPheGlnAlaSerGlyTyrAsnPheAsnThrTyrAspTrpArgSerProLysGlnArgGlySerLeuSerProValThrLysProArgSerGlnThrTyrProAspValGlyLeuSerTyrGluAspTrpAspArgSerThrAlaSerGlyPheAlaGlyAlaAlaAspSerAlaGluThrGluGlnGluGluAsnPheTrpSerGlnAlaLeuGluAspLeuGluThrCysGlyGlnSerGlyIleLeuArgGluLeuGluGluLysAlaAspArgArgValSerLeuArgAsnMetThrLeuLeuAlaThrIleMetSerGlySerThrMetSerLeuAsnHisGluAlaProThrProArgSerGlnLeuGlyArgGlnAlaSerPheGlnGluArgSerSerSerArgProHisTyrSerGlnThrThrArgSerAsnThrLeuProSerAspValGlyArgLysSerValThrLeuArgLysMetLysGlnGluIleLysGluIleMetSerProThrProValGluLeuHisLysValThrLeuTyrLysAspSerAspMetGluAspPheGlyPheSerValAlaAspGlyLeuLeuGluLysGlyValTyrValLysAsnIleArgProAlaGlyProGlyAspLeuGlyGlyLeuLysProTyrAspArgLeuLeuGlnValAsnHisValArgThrArgAspPheAspCysCysLeuValValProLeuIleAlaGluSerGlyAsnLysLeuAspLeuValIleSerArgAsnProLeuAlaSerGlnLysSerIleAspGlnGlnSerLeuProGlyAspTrpSerGluGlnAsnSerAlaPhePheGlnGlnProSerHisGlyGlyAsnLeuGluThrArgGluProThrAsnThrLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS698384" }, { "@id": "http://reg.genome.network/allele/PA1139745212", "coordinates": [ { "allele": "T", "end": 2092, "referenceAllele": "C", "start": 2091 } ], "gene": "http://reg.genome.network/gene/GN018708", "geneNCBI_id": 23426, "geneSymbol": "GRIP1", "hgvs": [ "NM_001379345.1:c.2008C>T" ], "proteinEffect": { "hgvs": "NP_001366274.1:p.Gln670Ter", "hgvsWellDefined": "NP_001366274.1:p.Gln671_Leu1154delinsCysGluAspLeuValLysLeuLysIleArgLysAspGluAspAsnSerAspGluGlnGluSerSerGlyAlaIleIleTyrThrValGluLeuLysArgTyrGlyGlyProLeuGlyIleThrIleSerGlyThrGluGluProPheAspProIleIleIleSerSerLeuThrLysGlyGlyLeuAlaGluArgThrGlyAlaIleHisIleGlyAspArgIleLeuAlaIleAsnSerSerSerLeuLysGlyLysProLeuSerGluAlaIleHisLeuLeuGlnMetAlaGlyGluThrValThrLeuLysIleLysLysGlnThrAspAlaGlnSerAlaSerSerProLysLysPheProIleSerSerHisLeuSerAspLeuGlyAspValGluGluAspSerSerProAlaGlnLysProGlyLysLeuSerAspMetTyrProSerThrValProSerValAspSerAlaValAspSerTrpAspGlySerAlaIleAspThrSerTyrGlyThrGlnGlyThrSerPheGlnAlaSerGlyTyrAsnPheAsnThrTyrAspTrpArgSerProLysGlnArgGlySerLeuSerProValThrLysProArgSerGlnThrTyrProAspValGlyLeuSerTyrGluAspTrpAspArgSerThrAlaSerGlyPheAlaGlyAlaAlaAspSerAlaGluThrGluGlnGluGluAsnPheTrpSerGlnAlaLeuGluAspLeuGluThrCysGlyGlnSerGlyIleLeuArgGluLeuGluGluLysAlaAspArgArgValSerLeuArgAsnMetThrLeuLeuAlaThrIleMetSerGlySerThrMetSerLeuAsnHisGluAlaProThrProArgSerGlnLeuGlyArgGlnAlaSerPheGlnGluArgSerSerSerArgProHisTyrSerGlnThrThrArgSerAsnThrLeuProSerAspValGlyArgLysSerValThrLeuArgLysMetLysGlnGluIleLysGluIleMetSerProThrProValGluLeuHisLysValThrLeuTyrLysAspSerAspMetGluAspPheGlyPheSerValAlaAspGlyLeuLeuGluLysGlyValTyrValLysAsnIleArgProAlaGlyProGlyAspLeuGlyGlyLeuLysProTyrAspArgLeuLeuGlnValAsnHisValArgThrArgAspPheAspCysCysLeuValValProLeuIleAlaGluSerGlyAsnLysLeuAspLeuValIleSerArgAsnProLeuAlaSerGlnLysSerIleAspGlnGlnSerLeuProGlyAspTrpSerGluGlnAsnSerAlaPhePheGlnGlnProSerHisGlyGlyAsnLeuGluThrArgGluProThrAsnThrLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS721967" }, { "@id": "http://reg.genome.network/allele/PA2828825954", "coordinates": [ { "allele": "T", "end": 2102, "referenceAllele": "C", "start": 2101 } ], "gene": "http://reg.genome.network/gene/GN018708", "geneNCBI_id": 23426, "geneSymbol": "GRIP1", "hgvs": [ "NM_001379346.1:c.1930C>T" ], "proteinEffect": { "hgvs": "NP_001366275.1:p.Gln644Ter", "hgvsWellDefined": "NP_001366275.1:p.Gln645_Leu1113delinsCysGluAspLeuValLysLeuLysIleArgLysAspGluAspAsnSerAspGluGlnGluSerSerGlyAlaIleIleTyrThrValGluLeuLysArgTyrGlyGlyProLeuGlyIleThrIleSerGlyThrGluGluProPheAspProIleIleIleSerSerLeuThrLysGlyGlyLeuAlaGluArgThrGlyAlaIleHisIleGlyAspArgIleLeuAlaIleAsnSerSerSerLeuLysGlyLysProLeuSerGluAlaIleHisLeuLeuGlnMetAlaGlyGluThrValThrLeuLysIleLysLysGlnThrAspAlaGlnSerAlaSerSerProLysLysPheProIleSerSerHisLeuSerAspLeuGlyAspValGluGluAspSerSerProAlaGlnLysProGlyLysLeuSerAspMetTyrProSerThrValProSerValAspSerAlaValAspSerTrpAspGlySerAlaIleAspThrSerTyrGlyThrGlnGlyThrSerPheGlnAlaSerGlyTyrAsnPheAsnThrTyrAspTrpArgSerProLysGlnArgGlySerLeuSerProValThrLysProArgSerGlnThrTyrProAspValGlyLeuSerTyrGluAspTrpAspArgSerThrAlaSerGlyPheAlaGlyAlaAlaAspSerAlaGluThrGluGlnGluGluAsnPheTrpSerGlnAlaLeuGluAspLeuGluThrCysGlyGlnSerGlyIleLeuArgGluLeuGluAlaThrIleMetSerGlySerThrMetSerLeuAsnHisGluAlaProThrProArgSerGlnLeuGlyArgGlnAlaSerPheGlnGluArgSerSerSerArgProHisTyrSerGlnThrThrArgSerAsnThrLeuProSerAspValGlyArgLysSerValThrLeuArgLysMetLysGlnGluIleLysGluIleMetSerProThrProValGluLeuHisLysValThrLeuTyrLysAspSerAspMetGluAspPheGlyPheSerValAlaAspGlyLeuLeuGluLysGlyValTyrValLysAsnIleArgProAlaGlyProGlyAspLeuGlyGlyLeuLysProTyrAspArgLeuLeuGlnValAsnHisValArgThrArgAspPheAspCysCysLeuValValProLeuIleAlaGluSerGlyAsnLysLeuAspLeuValIleSerArgAsnProLeuAlaSerGlnLysSerIleAspGlnGlnSerLeuProGlyAspTrpSerGluGlnAsnSerAlaPhePheGlnGlnProSerHisGlyGlyAsnLeuGluThrArgGluProThrAsnThrLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS721968" }, { "@id": "http://reg.genome.network/allele/PA2828826252", "coordinates": [ { "allele": "T", "end": 1936, "referenceAllele": "C", "start": 1935 } ], "gene": "http://reg.genome.network/gene/GN018708", "geneNCBI_id": 23426, "geneSymbol": "GRIP1", "hgvs": [ "NM_001379347.1:c.1852C>T" ], "proteinEffect": { "hgvs": "NP_001366276.1:p.Gln618Ter", "hgvsWellDefined": "NP_001366276.1:p.Gln619_Leu1087delinsCysGluAspLeuValLysLeuLysIleArgLysAspGluAspAsnSerAspGluGlnGluSerSerGlyAlaIleIleTyrThrValGluLeuLysArgTyrGlyGlyProLeuGlyIleThrIleSerGlyThrGluGluProPheAspProIleIleIleSerSerLeuThrLysGlyGlyLeuAlaGluArgThrGlyAlaIleHisIleGlyAspArgIleLeuAlaIleAsnSerSerSerLeuLysGlyLysProLeuSerGluAlaIleHisLeuLeuGlnMetAlaGlyGluThrValThrLeuLysIleLysLysGlnThrAspAlaGlnSerAlaSerSerProLysLysPheProIleSerSerHisLeuSerAspLeuGlyAspValGluGluAspSerSerProAlaGlnLysProGlyLysLeuSerAspMetTyrProSerThrValProSerValAspSerAlaValAspSerTrpAspGlySerAlaIleAspThrSerTyrGlyThrGlnGlyThrSerPheGlnAlaSerGlyTyrAsnPheAsnThrTyrAspTrpArgSerProLysGlnArgGlySerLeuSerProValThrLysProArgSerGlnThrTyrProAspValGlyLeuSerTyrGluAspTrpAspArgSerThrAlaSerGlyPheAlaGlyAlaAlaAspSerAlaGluThrGluGlnGluGluAsnPheTrpSerGlnAlaLeuGluAspLeuGluThrCysGlyGlnSerGlyIleLeuArgGluLeuGluAlaThrIleMetSerGlySerThrMetSerLeuAsnHisGluAlaProThrProArgSerGlnLeuGlyArgGlnAlaSerPheGlnGluArgSerSerSerArgProHisTyrSerGlnThrThrArgSerAsnThrLeuProSerAspValGlyArgLysSerValThrLeuArgLysMetLysGlnGluIleLysGluIleMetSerProThrProValGluLeuHisLysValThrLeuTyrLysAspSerAspMetGluAspPheGlyPheSerValAlaAspGlyLeuLeuGluLysGlyValTyrValLysAsnIleArgProAlaGlyProGlyAspLeuGlyGlyLeuLysProTyrAspArgLeuLeuGlnValAsnHisValArgThrArgAspPheAspCysCysLeuValValProLeuIleAlaGluSerGlyAsnLysLeuAspLeuValIleSerArgAsnProLeuAlaSerGlnLysSerIleAspGlnGlnSerLeuProGlyAspTrpSerGluGlnAsnSerAlaPhePheGlnGlnProSerHisGlyGlyAsnLeuGluThrArgGluProThrAsnThrLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS721969" }, { "@id": "http://reg.genome.network/allele/PA2828826526", "coordinates": [ { "allele": "T", "end": 1933, "referenceAllele": "C", "start": 1932 } ], "gene": "http://reg.genome.network/gene/GN018708", "geneNCBI_id": 23426, "geneSymbol": "GRIP1", "hgvs": [ "NM_001379348.1:c.1849C>T" ], "proteinEffect": { "hgvs": "NP_001366277.1:p.Gln617Ter", "hgvsWellDefined": "NP_001366277.1:p.Gln618_Leu1086delinsCysGluAspLeuValLysLeuLysIleArgLysAspGluAspAsnSerAspGluGlnGluSerSerGlyAlaIleIleTyrThrValGluLeuLysArgTyrGlyGlyProLeuGlyIleThrIleSerGlyThrGluGluProPheAspProIleIleIleSerSerLeuThrLysGlyGlyLeuAlaGluArgThrGlyAlaIleHisIleGlyAspArgIleLeuAlaIleAsnSerSerSerLeuLysGlyLysProLeuSerGluAlaIleHisLeuLeuGlnMetAlaGlyGluThrValThrLeuLysIleLysLysGlnThrAspAlaGlnSerAlaSerSerProLysLysPheProIleSerSerHisLeuSerAspLeuGlyAspValGluGluAspSerSerProAlaGlnLysProGlyLysLeuSerAspMetTyrProSerThrValProSerValAspSerAlaValAspSerTrpAspGlySerAlaIleAspThrSerTyrGlyThrGlnGlyThrSerPheGlnAlaSerGlyTyrAsnPheAsnThrTyrAspTrpArgSerProLysGlnArgGlySerLeuSerProValThrLysProArgSerGlnThrTyrProAspValGlyLeuSerTyrGluAspTrpAspArgSerThrAlaSerGlyPheAlaGlyAlaAlaAspSerAlaGluThrGluGlnGluGluAsnPheTrpSerGlnAlaLeuGluAspLeuGluThrCysGlyGlnSerGlyIleLeuArgGluLeuGluAlaThrIleMetSerGlySerThrMetSerLeuAsnHisGluAlaProThrProArgSerGlnLeuGlyArgGlnAlaSerPheGlnGluArgSerSerSerArgProHisTyrSerGlnThrThrArgSerAsnThrLeuProSerAspValGlyArgLysSerValThrLeuArgLysMetLysGlnGluIleLysGluIleMetSerProThrProValGluLeuHisLysValThrLeuTyrLysAspSerAspMetGluAspPheGlyPheSerValAlaAspGlyLeuLeuGluLysGlyValTyrValLysAsnIleArgProAlaGlyProGlyAspLeuGlyGlyLeuLysProTyrAspArgLeuLeuGlnValAsnHisValArgThrArgAspPheAspCysCysLeuValValProLeuIleAlaGluSerGlyAsnLysLeuAspLeuValIleSerArgAsnProLeuAlaSerGlnLysSerIleAspGlnGlnSerLeuProGlyAspTrpSerGluGlnAsnSerAlaPhePheGlnGlnProSerHisGlyGlyAsnLeuGluThrArgGluProThrAsnThrLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS721970" }, { "@id": "http://reg.genome.network/allele/PA2828826825", "coordinates": [ { "allele": "T", "end": 2008, "referenceAllele": "C", "start": 2007 } ], "gene": "http://reg.genome.network/gene/GN018708", "geneNCBI_id": 23426, "geneSymbol": "GRIP1", "hgvs": [ "NM_001379349.1:c.1777C>T" ], "proteinEffect": { "hgvs": "NP_001366278.1:p.Gln593Ter", "hgvsWellDefined": "NP_001366278.1:p.Gln594_Leu1077delinsCysGluAspLeuValLysLeuLysIleArgLysAspGluAspAsnSerAspGluGlnGluSerSerGlyAlaIleIleTyrThrValGluLeuLysArgTyrGlyGlyProLeuGlyIleThrIleSerGlyThrGluGluProPheAspProIleIleIleSerSerLeuThrLysGlyGlyLeuAlaGluArgThrGlyAlaIleHisIleGlyAspArgIleLeuAlaIleAsnSerSerSerLeuLysGlyLysProLeuSerGluAlaIleHisLeuLeuGlnMetAlaGlyGluThrValThrLeuLysIleLysLysGlnThrAspAlaGlnSerAlaSerSerProLysLysPheProIleSerSerHisLeuSerAspLeuGlyAspValGluGluAspSerSerProAlaGlnLysProGlyLysLeuSerAspMetTyrProSerThrValProSerValAspSerAlaValAspSerTrpAspGlySerAlaIleAspThrSerTyrGlyThrGlnGlyThrSerPheGlnAlaSerGlyTyrAsnPheAsnThrTyrAspTrpArgSerProLysGlnArgGlySerLeuSerProValThrLysProArgSerGlnThrTyrProAspValGlyLeuSerTyrGluAspTrpAspArgSerThrAlaSerGlyPheAlaGlyAlaAlaAspSerAlaGluThrGluGlnGluGluAsnPheTrpSerGlnAlaLeuGluAspLeuGluThrCysGlyGlnSerGlyIleLeuArgGluLeuGluGluLysAlaAspArgArgValSerLeuArgAsnMetThrLeuLeuAlaThrIleMetSerGlySerThrMetSerLeuAsnHisGluAlaProThrProArgSerGlnLeuGlyArgGlnAlaSerPheGlnGluArgSerSerSerArgProHisTyrSerGlnThrThrArgSerAsnThrLeuProSerAspValGlyArgLysSerValThrLeuArgLysMetLysGlnGluIleLysGluIleMetSerProThrProValGluLeuHisLysValThrLeuTyrLysAspSerAspMetGluAspPheGlyPheSerValAlaAspGlyLeuLeuGluLysGlyValTyrValLysAsnIleArgProAlaGlyProGlyAspLeuGlyGlyLeuLysProTyrAspArgLeuLeuGlnValAsnHisValArgThrArgAspPheAspCysCysLeuValValProLeuIleAlaGluSerGlyAsnLysLeuAspLeuValIleSerArgAsnProLeuAlaSerGlnLysSerIleAspGlnGlnSerLeuProGlyAspTrpSerGluGlnAsnSerAlaPhePheGlnGlnProSerHisGlyGlyAsnLeuGluThrArgGluProThrAsnThrLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS721971" }, { "@id": "http://reg.genome.network/allele/PA2828827130", "coordinates": [ { "allele": "T", "end": 2005, "referenceAllele": "C", "start": 2004 } ], "gene": "http://reg.genome.network/gene/GN018708", "geneNCBI_id": 23426, "geneSymbol": "GRIP1", "hgvs": [ "NM_001379351.1:c.1774C>T" ], "proteinEffect": { "hgvs": "NP_001366280.1:p.Gln592Ter", "hgvsWellDefined": "NP_001366280.1:p.Gln593_Leu1061delinsCysGluAspLeuValLysLeuLysIleArgLysAspGluAspAsnSerAspGluGlnGluSerSerGlyAlaIleIleTyrThrValGluLeuLysArgTyrGlyGlyProLeuGlyIleThrIleSerGlyThrGluGluProPheAspProIleIleIleSerSerLeuThrLysGlyGlyLeuAlaGluArgThrGlyAlaIleHisIleGlyAspArgIleLeuAlaIleAsnSerSerSerLeuLysGlyLysProLeuSerGluAlaIleHisLeuLeuGlnMetAlaGlyGluThrValThrLeuLysIleLysLysGlnThrAspAlaGlnSerAlaSerSerProLysLysPheProIleSerSerHisLeuSerAspLeuGlyAspValGluGluAspSerSerProAlaGlnLysProGlyLysLeuSerAspMetTyrProSerThrValProSerValAspSerAlaValAspSerTrpAspGlySerAlaIleAspThrSerTyrGlyThrGlnGlyThrSerPheGlnAlaSerGlyTyrAsnPheAsnThrTyrAspTrpArgSerProLysGlnArgGlySerLeuSerProValThrLysProArgSerGlnThrTyrProAspValGlyLeuSerTyrGluAspTrpAspArgSerThrAlaSerGlyPheAlaGlyAlaAlaAspSerAlaGluThrGluGlnGluGluAsnPheTrpSerGlnAlaLeuGluAspLeuGluThrCysGlyGlnSerGlyIleLeuArgGluLeuGluAlaThrIleMetSerGlySerThrMetSerLeuAsnHisGluAlaProThrProArgSerGlnLeuGlyArgGlnAlaSerPheGlnGluArgSerSerSerArgProHisTyrSerGlnThrThrArgSerAsnThrLeuProSerAspValGlyArgLysSerValThrLeuArgLysMetLysGlnGluIleLysGluIleMetSerProThrProValGluLeuHisLysValThrLeuTyrLysAspSerAspMetGluAspPheGlyPheSerValAlaAspGlyLeuLeuGluLysGlyValTyrValLysAsnIleArgProAlaGlyProGlyAspLeuGlyGlyLeuLysProTyrAspArgLeuLeuGlnValAsnHisValArgThrArgAspPheAspCysCysLeuValValProLeuIleAlaGluSerGlyAsnLysLeuAspLeuValIleSerArgAsnProLeuAlaSerGlnLysSerIleAspGlnGlnSerLeuProGlyAspTrpSerGluGlnAsnSerAlaPhePheGlnGlnProSerHisGlyGlyAsnLeuGluThrArgGluProThrAsnThrLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS721972" } ], "type": "nucleotide" }