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}, "referenceSequence": "http://reg.genome.network/refseq/RS248766" }, { "coordinates": [ { "allele": "A", "end": 81, "endIntronDirection": "-", "endIntronOffset": 59820, "referenceAllele": "G", "start": 81, "startIntronDirection": "-", "startIntronOffset": 59821 } ], "gene": "http://reg.genome.network/gene/GN004263", "geneNCBI_id": 2690, "geneSymbol": "GHR", "hgvs": [ "ENST00000357703.6:c.71-59821G>A" ], "proteinEffect": { "hgvs": "ENSP00000350335.3:n.71-59821G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS264201" }, { "coordinates": [ { "allele": "A", "end": 121, "referenceAllele": "G", "start": 120 } ], "gene": "http://reg.genome.network/gene/GN004263", "geneNCBI_id": 2690, "geneSymbol": "GHR", "hgvs": [ "ENST00000511135.5:c.102G>A" ], "proteinEffect": { "hgvs": "ENSP00000422333.1:p.Trp34Ter", "hgvsWellDefined": "ENSP00000422333.1:p.Trp34_Ser85delinsSerLeuGlnSerValAsnProGlyLeuLysThrArgThrLeuLysAsnGlyLeuLysAsnGlyLysAsnAlaLeuIleMetPheLeuLeuGlyLysThrAlaValThrLeuIleHisArgLeuProProSerGlyTyrLeuIleValSerSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS341469" }, { "coordinates": [ { "allele": "A", "end": 194, "referenceAllele": "G", "start": 193 } ], "gene": "http://reg.genome.network/gene/GN004263", "geneNCBI_id": 2690, "geneSymbol": "GHR", "hgvs": [ "ENST00000513671.5:c.102G>A" ], "proteinEffect": { "hgvs": "ENSP00000426739.1:p.Trp34Ter", "hgvsWellDefined": "ENSP00000426739.1:p.Trp34_Ala62delinsSerLeuGlnSerValAsnProGlyLeuLysThrArgTrpGlyProCysSerHisIleLysLysMetGluSerTyrMetGlnAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS343357" }, { "coordinates": [ { "allele": "A", "end": 150, "referenceAllele": "G", "start": 149 } ], "gene": "http://reg.genome.network/gene/GN004263", "geneNCBI_id": 2690, "geneSymbol": "GHR", "hgvs": [ "ENST00000537449.5:c.102G>A" ], "proteinEffect": { "hgvs": "ENSP00000442206.2:p.Trp34Ter", "hgvsWellDefined": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS402478" }, { "coordinates": [ { "allele": "A", "end": 222, "referenceAllele": "G", "start": 221 } ], "gene": "http://reg.genome.network/gene/GN004263", "geneNCBI_id": 2690, "geneSymbol": "GHR", "hgvs": [ "ENST00000618088.4:c.102G>A" ], "proteinEffect": { "hgvs": "ENSP00000482373.1:p.Trp34Ter", "hgvsWellDefined": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS403781" }, { "coordinates": [ { "allele": "A", "end": 260, "referenceAllele": "G", "start": 259 } ], "gene": "http://reg.genome.network/gene/GN004263", "geneNCBI_id": 2690, "geneSymbol": "GHR", "hgvs": [ "ENST00000620156.4:c.123G>A" ], "proteinEffect": { "hgvs": "ENSP00000483403.1:p.Trp41Ter", "hgvsWellDefined": "ENSP00000483403.1:p.Trp41_Pro645delinsSerLeuGlnSerValAsnProGlyLeuLysThrAsnSerSerLysGluProLysPheThrLysCysArgSerProGluArgGluThrPheSerCysHisTrpThrAspGluValHisHisGlyThrLysAsnLeuGlyProIleGlnLeuPheTyrThrArgArgAsnThrGlnGluTrpThrGlnGluTrpLysGluCysProAspTyrValSerAlaGlyGluAsnSerCysTyrPheAsnSerSerPheThrSerIleTrpIleProTyrCysIleLysLeuThrSerAsnGlyGlyThrValAspGluLysCysPheSerValAspGluIleValGlnProAspProProIleAlaLeuAsnTrpThrLeuLeuAsnValSerLeuThrGlyIleHisAlaAspIleGlnValArgTrpGluAlaProArgAsnAlaAspIleGlnLysGlyTrpMetValLeuGluTyrGluLeuGlnTyrLysGluValAsnGluThrLysTrpLysMetMetAspProIleLeuThrThrSerValProValTyrSerLeuLysValAspLysGluTyrGluValArgValArgSerLysGlnArgAsnSerGlyAsnTyrGlyGluPheSerGluValLeuTyrValThrLeuProGlnMetSerGlnPheThrCysGluGluAspPheTyrPheProTrpLeuLeuIleIleIlePheGlyIlePheGlyLeuThrValMetLeuPheValPheLeuPheSerLysGlnGlnArgIleLysMetLeuIleLeuProProValProValProLysIleLysGlyIleAspProAspLeuLeuLysGluGlyLysLeuGluGluValAsnThrIleLeuAlaIleHisAspSerTyrLysProGluPheHisSerAspAspSerTrpValGluPheIleGluLeuAspIleAspGluProAspGluLysThrGluGluSerAspThrAspArgLeuLeuSerSerAspHisGluLysSerHisSerAsnLeuGlyValLysAspGlyAspSerGlyArgThrSerCysCysGluProAspIleLeuGluThrAspPheAsnAlaAsnAspIleHisGluGlyThrSerGluValAlaGlnProGlnArgLeuLysGlyGluAlaAspLeuLeuCysLeuAspGlnLysAsnGlnAsnAsnSerProTyrHisAspAlaCysProAlaThrGlnGlnProSerValIleGlnAlaGluLysAsnLysProGlnProLeuProThrGluGlyAlaGluSerThrHisGlnAlaAlaHisIleGlnLeuSerAsnProSerSerLeuSerAsnIleAspPheTyrAlaGlnValSerAspIleThrProAlaGlySerValValLeuSerProGlyGlnLysAsnLysAlaGlyMetSerGlnCysAspMetHisProGluMetValSerLeuCysGlnGluAsnPheLeuMetAspAsnAlaTyrPheCysGluAlaAspAlaLysLysCysIleProValAlaProHisIleLysValGluSerHisIleGlnProSerLeuAsnGlnGluAspIleTyrIleThrThrGluSerLeuThrThrAlaAlaGlyArgProGlyThrGlyGluHisValProGlySerGluMetProValProAspTyrThrSerIleHisIleValGlnSerProGlnGlyLeuIleLeuAsnAlaThrAlaLeuProLeuProAspLysGluPheLeuSerSerCysGlyTyrValSerThrAspGlnLeuAsnLysIleMetProTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS404699" }, { "coordinates": [ { "allele": "A", "end": 113, "referenceAllele": "G", "start": 112 } ], "gene": "http://reg.genome.network/gene/GN004263", "geneNCBI_id": 2690, "geneSymbol": "GHR", "hgvs": [ "ENST00000622294.2:c.102G>A" ], "proteinEffect": { "hgvs": "ENSP00000483926.1:p.Trp34Ter", "hgvsWellDefined": "ENSP00000483926.1:p.Trp34_Asn295delinsSerLeuGlnSerValAsnProGlyLeuLysThrAsnSerSerLysGluProLysPheThrLysCysArgSerProGluArgGluThrPheSerCysHisTrpThrAspGluValHisHisGlyThrLysAsnLeuGlyProIleGlnLeuPheTyrThrArgArgAsnThrGlnGluTrpThrGlnGluTrpLysGluCysProAspTyrValSerAlaGlyGluAsnSerCysTyrPheAsnSerSerPheThrSerIleTrpIleProTyrCysIleLysLeuThrSerAsnGlyGlyThrValAspGluLysCysPheSerValAspGluIleValGlnProAspProProIleAlaLeuAsnTrpThrLeuLeuAsnValSerLeuThrGlyIleHisAlaAspIleGlnValArgTrpGluAlaProArgAsnAlaAspIleGlnLysGlyTrpMetValLeuGluTyrGluLeuGlnTyrLysGluValAsnGluThrLysTrpLysMetMetAspProIleLeuThrThrSerValProValTyrSerLeuLysValAspLysGluTyrGluValArgValArgSerLysGlnArgAsnSerGlyAsnTyrGlyGluPheSerGluValLeuTyrValThrLeuProGlnMetSerGlnPheThrCysGluGluAspPheTyrPheProTrpLeuLeuIleIleIlePheGlyIlePheGlyLeuThrValMetLeuPheValPheLeuPheSerLysGlnGlnArgLysGluAsnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS405658" }, { "@id": "http://reg.genome.network/allele/PA119814", "coordinates": [ { "allele": "A", "end": 294, "referenceAllele": "G", "start": 293 } ], "gene": "http://reg.genome.network/gene/GN004263", "geneNCBI_id": 2690, "geneSymbol": "GHR", "hgvs": [ "NM_000163.4:c.102G>A" ], "proteinEffect": { "hgvs": "NP_000154.1:p.Trp34Ter", "hgvsWellDefined": "NP_000154.1:p.Trp34_Pro638delinsSerLeuGlnSerValAsnProGlyLeuLysThrAsnSerSerLysGluProLysPheThrLysCysArgSerProGluArgGluThrPheSerCysHisTrpThrAspGluValHisHisGlyThrLysAsnLeuGlyProIleGlnLeuPheTyrThrArgArgAsnThrGlnGluTrpThrGlnGluTrpLysGluCysProAspTyrValSerAlaGlyGluAsnSerCysTyrPheAsnSerSerPheThrSerIleTrpIleProTyrCysIleLysLeuThrSerAsnGlyGlyThrValAspGluLysCysPheSerValAspGluIleValGlnProAspProProIleAlaLeuAsnTrpThrLeuLeuAsnValSerLeuThrGlyIleHisAlaAspIleGlnValArgTrpGluAlaProArgAsnAlaAspIleGlnLysGlyTrpMetValLeuGluTyrGluLeuGlnTyrLysGluValAsnGluThrLysTrpLysMetMetAspProIleLeuThrThrSerValProValTyrSerLeuLysValAspLysGluTyrGluValArgValArgSerLysGlnArgAsnSerGlyAsnTyrGlyGluPheSerGluValLeuTyrValThrLeuProGlnMetSerGlnPheThrCysGluGluAspPheTyrPheProTrpLeuLeuIleIleIlePheGlyIlePheGlyLeuThrValMetLeuPheValPheLeuPheSerLysGlnGlnArgIleLysMetLeuIleLeuProProValProValProLysIleLysGlyIleAspProAspLeuLeuLysGluGlyLysLeuGluGluValAsnThrIleLeuAlaIleHisAspSerTyrLysProGluPheHisSerAspAspSerTrpValGluPheIleGluLeuAspIleAspGluProAspGluLysThrGluGluSerAspThrAspArgLeuLeuSerSerAspHisGluLysSerHisSerAsnLeuGlyValLysAspGlyAspSerGlyArgThrSerCysCysGluProAspIleLeuGluThrAspPheAsnAlaAsnAspIleHisGluGlyThrSerGluValAlaGlnProGlnArgLeuLysGlyGluAlaAspLeuLeuCysLeuAspGlnLysAsnGlnAsnAsnSerProTyrHisAspAlaCysProAlaThrGlnGlnProSerValIleGlnAlaGluLysAsnLysProGlnProLeuProThrGluGlyAlaGluSerThrHisGlnAlaAlaHisIleGlnLeuSerAsnProSerSerLeuSerAsnIleAspPheTyrAlaGlnValSerAspIleThrProAlaGlySerValValLeuSerProGlyGlnLysAsnLysAlaGlyMetSerGlnCysAspMetHisProGluMetValSerLeuCysGlnGluAsnPheLeuMetAspAsnAlaTyrPheCysGluAlaAspAlaLysLysCysIleProValAlaProHisIleLysValGluSerHisIleGlnProSerLeuAsnGlnGluAspIleTyrIleThrThrGluSerLeuThrThrAlaAlaGlyArgProGlyThrGlyGluHisValProGlySerGluMetProValProAspTyrThrSerIleHisIleValGlnSerProGlnGlyLeuIleLeuAsnAlaThrAlaLeuProLeuProAspLysGluPheLeuSerSerCysGlyTyrValSerThrAspGlnLeuAsnLysIleMetProTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS006225" }, { "@id": "http://reg.genome.network/allele/PA916005590", "coordinates": [ { "allele": "A", "end": 260, "referenceAllele": "G", "start": 259 } ], "gene": "http://reg.genome.network/gene/GN004263", "geneNCBI_id": 2690, "geneSymbol": "GHR", "hgvs": [ "NM_001242399.2:c.123G>A" ], "proteinEffect": { "hgvs": "NP_001229328.1:p.Trp41Ter", "hgvsWellDefined": "NP_001229328.1:p.Trp41_Pro645delinsSerLeuGlnSerValAsnProGlyLeuLysThrAsnSerSerLysGluProLysPheThrLysCysArgSerProGluArgGluThrPheSerCysHisTrpThrAspGluValHisHisGlyThrLysAsnLeuGlyProIleGlnLeuPheTyrThrArgArgAsnThrGlnGluTrpThrGlnGluTrpLysGluCysProAspTyrValSerAlaGlyGluAsnSerCysTyrPheAsnSerSerPheThrSerIleTrpIleProTyrCysIleLysLeuThrSerAsnGlyGlyThrValAspGluLysCysPheSerValAspGluIleValGlnProAspProProIleAlaLeuAsnTrpThrLeuLeuAsnValSerLeuThrGlyIleHisAlaAspIleGlnValArgTrpGluAlaProArgAsnAlaAspIleGlnLysGlyTrpMetValLeuGluTyrGluLeuGlnTyrLysGluValAsnGluThrLysTrpLysMetMetAspProIleLeuThrThrSerValProValTyrSerLeuLysValAspLysGluTyrGluValArgValArgSerLysGlnArgAsnSerGlyAsnTyrGlyGluPheSerGluValLeuTyrValThrLeuProGlnMetSerGlnPheThrCysGluGluAspPheTyrPheProTrpLeuLeuIleIleIlePheGlyIlePheGlyLeuThrValMetLeuPheValPheLeuPheSerLysGlnGlnArgIleLysMetLeuIleLeuProProValProValProLysIleLysGlyIleAspProAspLeuLeuLysGluGlyLysLeuGluGluValAsnThrIleLeuAlaIleHisAspSerTyrLysProGluPheHisSerAspAspSerTrpValGluPheIleGluLeuAspIleAspGluProAspGluLysThrGluGluSerAspThrAspArgLeuLeuSerSerAspHisGluLysSerHisSerAsnLeuGlyValLysAspGlyAspSerGlyArgThrSerCysCysGluProAspIleLeuGluThrAspPheAsnAlaAsnAspIleHisGluGlyThrSerGluValAlaGlnProGlnArgLeuLysGlyGluAlaAspLeuLeuCysLeuAspGlnLysAsnGlnAsnAsnSerProTyrHisAspAlaCysProAlaThrGlnGlnProSerValIleGlnAlaGluLysAsnLysProGlnProLeuProThrGluGlyAlaGluSerThrHisGlnAlaAlaHisIleGlnLeuSerAsnProSerSerLeuSerAsnIleAspPheTyrAlaGlnValSerAspIleThrProAlaGlySerValValLeuSerProGlyGlnLysAsnLysAlaGlyMetSerGlnCysAspMetHisProGluMetValSerLeuCysGlnGluAsnPheLeuMetAspAsnAlaTyrPheCysGluAlaAspAlaLysLysCysIleProValAlaProHisIleLysValGluSerHisIleGlnProSerLeuAsnGlnGluAspIleTyrIleThrThrGluSerLeuThrThrAlaAlaGlyArgProGlyThrGlyGluHisValProGlySerGluMetProValProAspTyrThrSerIleHisIleValGlnSerProGlnGlyLeuIleLeuAsnAlaThrAlaLeuProLeuProAspLysGluPheLeuSerSerCysGlyTyrValSerThrAspGlnLeuAsnLysIleMetProTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS018103" }, { "@id": "http://reg.genome.network/allele/PA2826298884", "coordinates": [ { "allele": "A", "end": 545, "referenceAllele": "G", "start": 544 } ], "gene": "http://reg.genome.network/gene/GN004263", "geneNCBI_id": 2690, "geneSymbol": "GHR", "hgvs": [ "NM_001242400.2:c.102G>A" ], "proteinEffect": { "hgvs": "NP_001229329.1:p.Trp34Ter", "hgvsWellDefined": "NP_001229329.1:p.Trp34_Pro638delinsSerLeuGlnSerValAsnProGlyLeuLysThrAsnSerSerLysGluProLysPheThrLysCysArgSerProGluArgGluThrPheSerCysHisTrpThrAspGluValHisHisGlyThrLysAsnLeuGlyProIleGlnLeuPheTyrThrArgArgAsnThrGlnGluTrpThrGlnGluTrpLysGluCysProAspTyrValSerAlaGlyGluAsnSerCysTyrPheAsnSerSerPheThrSerIleTrpIleProTyrCysIleLysLeuThrSerAsnGlyGlyThrValAspGluLysCysPheSerValAspGluIleValGlnProAspProProIleAlaLeuAsnTrpThrLeuLeuAsnValSerLeuThrGlyIleHisAlaAspIleGlnValArgTrpGluAlaProArgAsnAlaAspIleGlnLysGlyTrpMetValLeuGluTyrGluLeuGlnTyrLysGluValAsnGluThrLysTrpLysMetMetAspProIleLeuThrThrSerValProValTyrSerLeuLysValAspLysGluTyrGluValArgValArgSerLysGlnArgAsnSerGlyAsnTyrGlyGluPheSerGluValLeuTyrValThrLeuProGlnMetSerGlnPheThrCysGluGluAspPheTyrPheProTrpLeuLeuIleIleIlePheGlyIlePheGlyLeuThrValMetLeuPheValPheLeuPheSerLysGlnGlnArgIleLysMetLeuIleLeuProProValProValProLysIleLysGlyIleAspProAspLeuLeuLysGluGlyLysLeuGluGluValAsnThrIleLeuAlaIleHisAspSerTyrLysProGluPheHisSerAspAspSerTrpValGluPheIleGluLeuAspIleAspGluProAspGluLysThrGluGluSerAspThrAspArgLeuLeuSerSerAspHisGluLysSerHisSerAsnLeuGlyValLysAspGlyAspSerGlyArgThrSerCysCysGluProAspIleLeuGluThrAspPheAsnAlaAsnAspIleHisGluGlyThrSerGluValAlaGlnProGlnArgLeuLysGlyGluAlaAspLeuLeuCysLeuAspGlnLysAsnGlnAsnAsnSerProTyrHisAspAlaCysProAlaThrGlnGlnProSerValIleGlnAlaGluLysAsnLysProGlnProLeuProThrGluGlyAlaGluSerThrHisGlnAlaAlaHisIleGlnLeuSerAsnProSerSerLeuSerAsnIleAspPheTyrAlaGlnValSerAspIleThrProAlaGlySerValValLeuSerProGlyGlnLysAsnLysAlaGlyMetSerGlnCysAspMetHisProGluMetValSerLeuCysGlnGluAsnPheLeuMetAspAsnAlaTyrPheCysGluAlaAspAlaLysLysCysIleProValAlaProHisIleLysValGluSerHisIleGlnProSerLeuAsnGlnGluAspIleTyrIleThrThrGluSerLeuThrThrAlaAlaGlyArgProGlyThrGlyGluHisValProGlySerGluMetProValProAspTyrThrSerIleHisIleValGlnSerProGlnGlyLeuIleLeuAsnAlaThrAlaLeuProLeuProAspLysGluPheLeuSerSerCysGlyTyrValSerThrAspGlnLeuAsnLysIleMetProTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS018104" }, { "@id": "http://reg.genome.network/allele/PA2826299190", "coordinates": [ { "allele": "A", "end": 253, "referenceAllele": "G", "start": 252 } ], "gene": "http://reg.genome.network/gene/GN004263", "geneNCBI_id": 2690, "geneSymbol": "GHR", "hgvs": [ "NM_001242401.3:c.102G>A" ], "proteinEffect": { "hgvs": "NP_001229330.1:p.Trp34Ter", "hgvsWellDefined": "NP_001229330.1:p.Trp34_Pro638delinsSerLeuGlnSerValAsnProGlyLeuLysThrAsnSerSerLysGluProLysPheThrLysCysArgSerProGluArgGluThrPheSerCysHisTrpThrAspGluValHisHisGlyThrLysAsnLeuGlyProIleGlnLeuPheTyrThrArgArgAsnThrGlnGluTrpThrGlnGluTrpLysGluCysProAspTyrValSerAlaGlyGluAsnSerCysTyrPheAsnSerSerPheThrSerIleTrpIleProTyrCysIleLysLeuThrSerAsnGlyGlyThrValAspGluLysCysPheSerValAspGluIleValGlnProAspProProIleAlaLeuAsnTrpThrLeuLeuAsnValSerLeuThrGlyIleHisAlaAspIleGlnValArgTrpGluAlaProArgAsnAlaAspIleGlnLysGlyTrpMetValLeuGluTyrGluLeuGlnTyrLysGluValAsnGluThrLysTrpLysMetMetAspProIleLeuThrThrSerValProValTyrSerLeuLysValAspLysGluTyrGluValArgValArgSerLysGlnArgAsnSerGlyAsnTyrGlyGluPheSerGluValLeuTyrValThrLeuProGlnMetSerGlnPheThrCysGluGluAspPheTyrPheProTrpLeuLeuIleIleIlePheGlyIlePheGlyLeuThrValMetLeuPheValPheLeuPheSerLysGlnGlnArgIleLysMetLeuIleLeuProProValProValProLysIleLysGlyIleAspProAspLeuLeuLysGluGlyLysLeuGluGluValAsnThrIleLeuAlaIleHisAspSerTyrLysProGluPheHisSerAspAspSerTrpValGluPheIleGluLeuAspIleAspGluProAspGluLysThrGluGluSerAspThrAspArgLeuLeuSerSerAspHisGluLysSerHisSerAsnLeuGlyValLysAspGlyAspSerGlyArgThrSerCysCysGluProAspIleLeuGluThrAspPheAsnAlaAsnAspIleHisGluGlyThrSerGluValAlaGlnProGlnArgLeuLysGlyGluAlaAspLeuLeuCysLeuAspGlnLysAsnGlnAsnAsnSerProTyrHisAspAlaCysProAlaThrGlnGlnProSerValIleGlnAlaGluLysAsnLysProGlnProLeuProThrGluGlyAlaGluSerThrHisGlnAlaAlaHisIleGlnLeuSerAsnProSerSerLeuSerAsnIleAspPheTyrAlaGlnValSerAspIleThrProAlaGlySerValValLeuSerProGlyGlnLysAsnLysAlaGlyMetSerGlnCysAspMetHisProGluMetValSerLeuCysGlnGluAsnPheLeuMetAspAsnAlaTyrPheCysGluAlaAspAlaLysLysCysIleProValAlaProHisIleLysValGluSerHisIleGlnProSerLeuAsnGlnGluAspIleTyrIleThrThrGluSerLeuThrThrAlaAlaGlyArgProGlyThrGlyGluHisValProGlySerGluMetProValProAspTyrThrSerIleHisIleValGlnSerProGlnGlyLeuIleLeuAsnAlaThrAlaLeuProLeuProAspLysGluPheLeuSerSerCysGlyTyrValSerThrAspGlnLeuAsnLysIleMetProTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS018105" }, { "@id": "http://reg.genome.network/allele/PA2826299498", "coordinates": [ { "allele": "A", "end": 222, "referenceAllele": "G", "start": 221 } ], "gene": "http://reg.genome.network/gene/GN004263", "geneNCBI_id": 2690, "geneSymbol": "GHR", "hgvs": [ "NM_001242402.2:c.102G>A" ], "proteinEffect": { "hgvs": "NP_001229331.1:p.Trp34Ter", "hgvsWellDefined": "NP_001229331.1:p.Trp34_Pro638delinsSerLeuGlnSerValAsnProGlyLeuLysThrAsnSerSerLysGluProLysPheThrLysCysArgSerProGluArgGluThrPheSerCysHisTrpThrAspGluValHisHisGlyThrLysAsnLeuGlyProIleGlnLeuPheTyrThrArgArgAsnThrGlnGluTrpThrGlnGluTrpLysGluCysProAspTyrValSerAlaGlyGluAsnSerCysTyrPheAsnSerSerPheThrSerIleTrpIleProTyrCysIleLysLeuThrSerAsnGlyGlyThrValAspGluLysCysPheSerValAspGluIleValGlnProAspProProIleAlaLeuAsnTrpThrLeuLeuAsnValSerLeuThrGlyIleHisAlaAspIleGlnValArgTrpGluAlaProArgAsnAlaAspIleGlnLysGlyTrpMetValLeuGluTyrGluLeuGlnTyrLysGluValAsnGluThrLysTrpLysMetMetAspProIleLeuThrThrSerValProValTyrSerLeuLysValAspLysGluTyrGluValArgValArgSerLysGlnArgAsnSerGlyAsnTyrGlyGluPheSerGluValLeuTyrValThrLeuProGlnMetSerGlnPheThrCysGluGluAspPheTyrPheProTrpLeuLeuIleIleIlePheGlyIlePheGlyLeuThrValMetLeuPheValPheLeuPheSerLysGlnGlnArgIleLysMetLeuIleLeuProProValProValProLysIleLysGlyIleAspProAspLeuLeuLysGluGlyLysLeuGluGluValAsnThrIleLeuAlaIleHisAspSerTyrLysProGluPheHisSerAspAspSerTrpValGluPheIleGluLeuAspIleAspGluProAspGluLysThrGluGluSerAspThrAspArgLeuLeuSerSerAspHisGluLysSerHisSerAsnLeuGlyValLysAspGlyAspSerGlyArgThrSerCysCysGluProAspIleLeuGluThrAspPheAsnAlaAsnAspIleHisGluGlyThrSerGluValAlaGlnProGlnArgLeuLysGlyGluAlaAspLeuLeuCysLeuAspGlnLysAsnGlnAsnAsnSerProTyrHisAspAlaCysProAlaThrGlnGlnProSerValIleGlnAlaGluLysAsnLysProGlnProLeuProThrGluGlyAlaGluSerThrHisGlnAlaAlaHisIleGlnLeuSerAsnProSerSerLeuSerAsnIleAspPheTyrAlaGlnValSerAspIleThrProAlaGlySerValValLeuSerProGlyGlnLysAsnLysAlaGlyMetSerGlnCysAspMetHisProGluMetValSerLeuCysGlnGluAsnPheLeuMetAspAsnAlaTyrPheCysGluAlaAspAlaLysLysCysIleProValAlaProHisIleLysValGluSerHisIleGlnProSerLeuAsnGlnGluAspIleTyrIleThrThrGluSerLeuThrThrAlaAlaGlyArgProGlyThrGlyGluHisValProGlySerGluMetProValProAspTyrThrSerIleHisIleValGlnSerProGlnGlyLeuIleLeuAsnAlaThrAlaLeuProLeuProAspLysGluPheLeuSerSerCysGlyTyrValSerThrAspGlnLeuAsnLysIleMetProTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS018106" }, { "@id": "http://reg.genome.network/allele/PA2826299802", "coordinates": [ { "allele": "A", "end": 430, "referenceAllele": "G", "start": 429 } ], "gene": "http://reg.genome.network/gene/GN004263", "geneNCBI_id": 2690, "geneSymbol": "GHR", "hgvs": [ "NM_001242403.2:c.102G>A" ], "proteinEffect": { "hgvs": "NP_001229332.1:p.Trp34Ter", "hgvsWellDefined": "NP_001229332.1:p.Trp34_Pro638delinsSerLeuGlnSerValAsnProGlyLeuLysThrAsnSerSerLysGluProLysPheThrLysCysArgSerProGluArgGluThrPheSerCysHisTrpThrAspGluValHisHisGlyThrLysAsnLeuGlyProIleGlnLeuPheTyrThrArgArgAsnThrGlnGluTrpThrGlnGluTrpLysGluCysProAspTyrValSerAlaGlyGluAsnSerCysTyrPheAsnSerSerPheThrSerIleTrpIleProTyrCysIleLysLeuThrSerAsnGlyGlyThrValAspGluLysCysPheSerValAspGluIleValGlnProAspProProIleAlaLeuAsnTrpThrLeuLeuAsnValSerLeuThrGlyIleHisAlaAspIleGlnValArgTrpGluAlaProArgAsnAlaAspIleGlnLysGlyTrpMetValLeuGluTyrGluLeuGlnTyrLysGluValAsnGluThrLysTrpLysMetMetAspProIleLeuThrThrSerValProValTyrSerLeuLysValAspLysGluTyrGluValArgValArgSerLysGlnArgAsnSerGlyAsnTyrGlyGluPheSerGluValLeuTyrValThrLeuProGlnMetSerGlnPheThrCysGluGluAspPheTyrPheProTrpLeuLeuIleIleIlePheGlyIlePheGlyLeuThrValMetLeuPheValPheLeuPheSerLysGlnGlnArgIleLysMetLeuIleLeuProProValProValProLysIleLysGlyIleAspProAspLeuLeuLysGluGlyLysLeuGluGluValAsnThrIleLeuAlaIleHisAspSerTyrLysProGluPheHisSerAspAspSerTrpValGluPheIleGluLeuAspIleAspGluProAspGluLysThrGluGluSerAspThrAspArgLeuLeuSerSerAspHisGluLysSerHisSerAsnLeuGlyValLysAspGlyAspSerGlyArgThrSerCysCysGluProAspIleLeuGluThrAspPheAsnAlaAsnAspIleHisGluGlyThrSerGluValAlaGlnProGlnArgLeuLysGlyGluAlaAspLeuLeuCysLeuAspGlnLysAsnGlnAsnAsnSerProTyrHisAspAlaCysProAlaThrGlnGlnProSerValIleGlnAlaGluLysAsnLysProGlnProLeuProThrGluGlyAlaGluSerThrHisGlnAlaAlaHisIleGlnLeuSerAsnProSerSerLeuSerAsnIleAspPheTyrAlaGlnValSerAspIleThrProAlaGlySerValValLeuSerProGlyGlnLysAsnLysAlaGlyMetSerGlnCysAspMetHisProGluMetValSerLeuCysGlnGluAsnPheLeuMetAspAsnAlaTyrPheCysGluAlaAspAlaLysLysCysIleProValAlaProHisIleLysValGluSerHisIleGlnProSerLeuAsnGlnGluAspIleTyrIleThrThrGluSerLeuThrThrAlaAlaGlyArgProGlyThrGlyGluHisValProGlySerGluMetProValProAspTyrThrSerIleHisIleValGlnSerProGlnGlyLeuIleLeuAsnAlaThrAlaLeuProLeuProAspLysGluPheLeuSerSerCysGlyTyrValSerThrAspGlnLeuAsnLysIleMetProTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS018107" }, { "@id": "http://reg.genome.network/allele/PA2826300110", "coordinates": [ { "allele": "A", "end": 255, "referenceAllele": "G", "start": 254 } ], "gene": "http://reg.genome.network/gene/GN004263", "geneNCBI_id": 2690, "geneSymbol": "GHR", "hgvs": [ "NM_001242404.2:c.102G>A" ], "proteinEffect": { "hgvs": "NP_001229333.1:p.Trp34Ter", "hgvsWellDefined": "NP_001229333.1:p.Trp34_Pro638delinsSerLeuGlnSerValAsnProGlyLeuLysThrAsnSerSerLysGluProLysPheThrLysCysArgSerProGluArgGluThrPheSerCysHisTrpThrAspGluValHisHisGlyThrLysAsnLeuGlyProIleGlnLeuPheTyrThrArgArgAsnThrGlnGluTrpThrGlnGluTrpLysGluCysProAspTyrValSerAlaGlyGluAsnSerCysTyrPheAsnSerSerPheThrSerIleTrpIleProTyrCysIleLysLeuThrSerAsnGlyGlyThrValAspGluLysCysPheSerValAspGluIleValGlnProAspProProIleAlaLeuAsnTrpThrLeuLeuAsnValSerLeuThrGlyIleHisAlaAspIleGlnValArgTrpGluAlaProArgAsnAlaAspIleGlnLysGlyTrpMetValLeuGluTyrGluLeuGlnTyrLysGluValAsnGluThrLysTrpLysMetMetAspProIleLeuThrThrSerValProValTyrSerLeuLysValAspLysGluTyrGluValArgValArgSerLysGlnArgAsnSerGlyAsnTyrGlyGluPheSerGluValLeuTyrValThrLeuProGlnMetSerGlnPheThrCysGluGluAspPheTyrPheProTrpLeuLeuIleIleIlePheGlyIlePheGlyLeuThrValMetLeuPheValPheLeuPheSerLysGlnGlnArgIleLysMetLeuIleLeuProProValProValProLysIleLysGlyIleAspProAspLeuLeuLysGluGlyLysLeuGluGluValAsnThrIleLeuAlaIleHisAspSerTyrLysProGluPheHisSerAspAspSerTrpValGluPheIleGluLeuAspIleAspGluProAspGluLysThrGluGluSerAspThrAspArgLeuLeuSerSerAspHisGluLysSerHisSerAsnLeuGlyValLysAspGlyAspSerGlyArgThrSerCysCysGluProAspIleLeuGluThrAspPheAsnAlaAsnAspIleHisGluGlyThrSerGluValAlaGlnProGlnArgLeuLysGlyGluAlaAspLeuLeuCysLeuAspGlnLysAsnGlnAsnAsnSerProTyrHisAspAlaCysProAlaThrGlnGlnProSerValIleGlnAlaGluLysAsnLysProGlnProLeuProThrGluGlyAlaGluSerThrHisGlnAlaAlaHisIleGlnLeuSerAsnProSerSerLeuSerAsnIleAspPheTyrAlaGlnValSerAspIleThrProAlaGlySerValValLeuSerProGlyGlnLysAsnLysAlaGlyMetSerGlnCysAspMetHisProGluMetValSerLeuCysGlnGluAsnPheLeuMetAspAsnAlaTyrPheCysGluAlaAspAlaLysLysCysIleProValAlaProHisIleLysValGluSerHisIleGlnProSerLeuAsnGlnGluAspIleTyrIleThrThrGluSerLeuThrThrAlaAlaGlyArgProGlyThrGlyGluHisValProGlySerGluMetProValProAspTyrThrSerIleHisIleValGlnSerProGlnGlyLeuIleLeuAsnAlaThrAlaLeuProLeuProAspLysGluPheLeuSerSerCysGlyTyrValSerThrAspGlnLeuAsnLysIleMetProTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS018108" }, { "@id": "http://reg.genome.network/allele/PA2826300414", "coordinates": [ { "allele": "A", "end": 150, "referenceAllele": "G", "start": 149 } ], "gene": "http://reg.genome.network/gene/GN004263", "geneNCBI_id": 2690, "geneSymbol": "GHR", "hgvs": [ "NM_001242405.2:c.102G>A" ], "proteinEffect": { "hgvs": "NP_001229334.1:p.Trp34Ter", "hgvsWellDefined": "NP_001229334.1:p.Trp34_Pro638delinsSerLeuGlnSerValAsnProGlyLeuLysThrAsnSerSerLysGluProLysPheThrLysCysArgSerProGluArgGluThrPheSerCysHisTrpThrAspGluValHisHisGlyThrLysAsnLeuGlyProIleGlnLeuPheTyrThrArgArgAsnThrGlnGluTrpThrGlnGluTrpLysGluCysProAspTyrValSerAlaGlyGluAsnSerCysTyrPheAsnSerSerPheThrSerIleTrpIleProTyrCysIleLysLeuThrSerAsnGlyGlyThrValAspGluLysCysPheSerValAspGluIleValGlnProAspProProIleAlaLeuAsnTrpThrLeuLeuAsnValSerLeuThrGlyIleHisAlaAspIleGlnValArgTrpGluAlaProArgAsnAlaAspIleGlnLysGlyTrpMetValLeuGluTyrGluLeuGlnTyrLysGluValAsnGluThrLysTrpLysMetMetAspProIleLeuThrThrSerValProValTyrSerLeuLysValAspLysGluTyrGluValArgValArgSerLysGlnArgAsnSerGlyAsnTyrGlyGluPheSerGluValLeuTyrValThrLeuProGlnMetSerGlnPheThrCysGluGluAspPheTyrPheProTrpLeuLeuIleIleIlePheGlyIlePheGlyLeuThrValMetLeuPheValPheLeuPheSerLysGlnGlnArgIleLysMetLeuIleLeuProProValProValProLysIleLysGlyIleAspProAspLeuLeuLysGluGlyLysLeuGluGluValAsnThrIleLeuAlaIleHisAspSerTyrLysProGluPheHisSerAspAspSerTrpValGluPheIleGluLeuAspIleAspGluProAspGluLysThrGluGluSerAspThrAspArgLeuLeuSerSerAspHisGluLysSerHisSerAsnLeuGlyValLysAspGlyAspSerGlyArgThrSerCysCysGluProAspIleLeuGluThrAspPheAsnAlaAsnAspIleHisGluGlyThrSerGluValAlaGlnProGlnArgLeuLysGlyGluAlaAspLeuLeuCysLeuAspGlnLysAsnGlnAsnAsnSerProTyrHisAspAlaCysProAlaThrGlnGlnProSerValIleGlnAlaGluLysAsnLysProGlnProLeuProThrGluGlyAlaGluSerThrHisGlnAlaAlaHisIleGlnLeuSerAsnProSerSerLeuSerAsnIleAspPheTyrAlaGlnValSerAspIleThrProAlaGlySerValValLeuSerProGlyGlnLysAsnLysAlaGlyMetSerGlnCysAspMetHisProGluMetValSerLeuCysGlnGluAsnPheLeuMetAspAsnAlaTyrPheCysGluAlaAspAlaLysLysCysIleProValAlaProHisIleLysValGluSerHisIleGlnProSerLeuAsnGlnGluAspIleTyrIleThrThrGluSerLeuThrThrAlaAlaGlyArgProGlyThrGlyGluHisValProGlySerGluMetProValProAspTyrThrSerIleHisIleValGlnSerProGlnGlyLeuIleLeuAsnAlaThrAlaLeuProLeuProAspLysGluPheLeuSerSerCysGlyTyrValSerThrAspGlnLeuAsnLysIleMetProTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS018109" }, { "@id": "http://reg.genome.network/allele/PA2826300721", "coordinates": [ { "allele": "A", "end": 516, "referenceAllele": "G", "start": 515 } ], "gene": "http://reg.genome.network/gene/GN004263", "geneNCBI_id": 2690, "geneSymbol": "GHR", "hgvs": [ "NM_001242406.2:c.102G>A" ], "proteinEffect": { "hgvs": "NP_001229335.1:p.Trp34Ter", "hgvsWellDefined": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS018110" }, { "coordinates": [ { "allele": "A", "end": 81, "endIntronDirection": "-", "endIntronOffset": 59820, "referenceAllele": "G", "start": 81, "startIntronDirection": "-", "startIntronOffset": 59821 } ], "gene": "http://reg.genome.network/gene/GN004263", "geneNCBI_id": 2690, "geneSymbol": "GHR", "hgvs": [ "NM_001242460.1:c.71-59821G>A" ], "proteinEffect": { "hgvs": "NP_001229389.1:n.71-59821G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS018123" }, { "@id": "http://reg.genome.network/allele/PA2826301522", "coordinates": [ { "allele": "A", "end": 113, "referenceAllele": "G", "start": 112 } ], "gene": "http://reg.genome.network/gene/GN004263", "geneNCBI_id": 2690, "geneSymbol": "GHR", "hgvs": [ "NM_001242462.1:c.102G>A" ], "proteinEffect": { "hgvs": "NP_001229391.1:p.Trp34Ter", "hgvsWellDefined": "NP_001229391.1:p.Trp34_Asn295delinsSerLeuGlnSerValAsnProGlyLeuLysThrAsnSerSerLysGluProLysPheThrLysCysArgSerProGluArgGluThrPheSerCysHisTrpThrAspGluValHisHisGlyThrLysAsnLeuGlyProIleGlnLeuPheTyrThrArgArgAsnThrGlnGluTrpThrGlnGluTrpLysGluCysProAspTyrValSerAlaGlyGluAsnSerCysTyrPheAsnSerSerPheThrSerIleTrpIleProTyrCysIleLysLeuThrSerAsnGlyGlyThrValAspGluLysCysPheSerValAspGluIleValGlnProAspProProIleAlaLeuAsnTrpThrLeuLeuAsnValSerLeuThrGlyIleHisAlaAspIleGlnValArgTrpGluAlaProArgAsnAlaAspIleGlnLysGlyTrpMetValLeuGluTyrGluLeuGlnTyrLysGluValAsnGluThrLysTrpLysMetMetAspProIleLeuThrThrSerValProValTyrSerLeuLysValAspLysGluTyrGluValArgValArgSerLysGlnArgAsnSerGlyAsnTyrGlyGluPheSerGluValLeuTyrValThrLeuProGlnMetSerGlnPheThrCysGluGluAspPheTyrPheProTrpLeuLeuIleIleIlePheGlyIlePheGlyLeuThrValMetLeuPheValPheLeuPheSerLysGlnGlnArgLysGluAsnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS018124" }, { "coordinates": [ { "allele": "A", "end": 106, "endIntronDirection": "-", "endIntronOffset": 59820, "referenceAllele": "G", "start": 106, "startIntronDirection": "-", "startIntronOffset": 59821 } ], "gene": "http://reg.genome.network/gene/GN004263", "geneNCBI_id": 2690, "geneSymbol": "GHR", "hgvs": [ "XM_011514031.1:c.92-59821G>A" ], "proteinEffect": { "hgvs": "XP_011512333.1:n.92-59821G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS081257" }, { "@id": "http://reg.genome.network/allele/PA119814", "coordinates": [ { "allele": "A", "end": 630, "referenceAllele": "G", "start": 629 } ], "gene": "http://reg.genome.network/gene/GN004263", "geneNCBI_id": 2690, "geneSymbol": "GHR", "hgvs": [ "NM_000163.5:c.102G>A" ], "proteinEffect": { "hgvs": "NP_000154.1:p.Trp34Ter", "hgvsWellDefined": "NP_000154.1:p.Trp34_Pro638delinsSerLeuGlnSerValAsnProGlyLeuLysThrAsnSerSerLysGluProLysPheThrLysCysArgSerProGluArgGluThrPheSerCysHisTrpThrAspGluValHisHisGlyThrLysAsnLeuGlyProIleGlnLeuPheTyrThrArgArgAsnThrGlnGluTrpThrGlnGluTrpLysGluCysProAspTyrValSerAlaGlyGluAsnSerCysTyrPheAsnSerSerPheThrSerIleTrpIleProTyrCysIleLysLeuThrSerAsnGlyGlyThrValAspGluLysCysPheSerValAspGluIleValGlnProAspProProIleAlaLeuAsnTrpThrLeuLeuAsnValSerLeuThrGlyIleHisAlaAspIleGlnValArgTrpGluAlaProArgAsnAlaAspIleGlnLysGlyTrpMetValLeuGluTyrGluLeuGlnTyrLysGluValAsnGluThrLysTrpLysMetMetAspProIleLeuThrThrSerValProValTyrSerLeuLysValAspLysGluTyrGluValArgValArgSerLysGlnArgAsnSerGlyAsnTyrGlyGluPheSerGluValLeuTyrValThrLeuProGlnMetSerGlnPheThrCysGluGluAspPheTyrPheProTrpLeuLeuIleIleIlePheGlyIlePheGlyLeuThrValMetLeuPheValPheLeuPheSerLysGlnGlnArgIleLysMetLeuIleLeuProProValProValProLysIleLysGlyIleAspProAspLeuLeuLysGluGlyLysLeuGluGluValAsnThrIleLeuAlaIleHisAspSerTyrLysProGluPheHisSerAspAspSerTrpValGluPheIleGluLeuAspIleAspGluProAspGluLysThrGluGluSerAspThrAspArgLeuLeuSerSerAspHisGluLysSerHisSerAsnLeuGlyValLysAspGlyAspSerGlyArgThrSerCysCysGluProAspIleLeuGluThrAspPheAsnAlaAsnAspIleHisGluGlyThrSerGluValAlaGlnProGlnArgLeuLysGlyGluAlaAspLeuLeuCysLeuAspGlnLysAsnGlnAsnAsnSerProTyrHisAspAlaCysProAlaThrGlnGlnProSerValIleGlnAlaGluLysAsnLysProGlnProLeuProThrGluGlyAlaGluSerThrHisGlnAlaAlaHisIleGlnLeuSerAsnProSerSerLeuSerAsnIleAspPheTyrAlaGlnValSerAspIleThrProAlaGlySerValValLeuSerProGlyGlnLysAsnLysAlaGlyMetSerGlnCysAspMetHisProGluMetValSerLeuCysGlnGluAsnPheLeuMetAspAsnAlaTyrPheCysGluAlaAspAlaLysLysCysIleProValAlaProHisIleLysValGluSerHisIleGlnProSerLeuAsnGlnGluAspIleTyrIleThrThrGluSerLeuThrThrAlaAlaGlyArgProGlyThrGlyGluHisValProGlySerGluMetProValProAspTyrThrSerIleHisIleValGlnSerProGlnGlyLeuIleLeuAsnAlaThrAlaLeuProLeuProAspLysGluPheLeuSerSerCysGlyTyrValSerThrAspGlnLeuAsnLysIleMetProTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS662336", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000230882.9:c.102G>A" }, "RefSeq": { "hgvs": "NM_000163.5:c.102G>A" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000230882.4:p.Trp34Ter" }, "RefSeq": { "hgvs": "NP_000154.1:p.Trp34Ter" } } } }, { "@id": "http://reg.genome.network/allele/PA2826299190", "coordinates": [ { "allele": "A", "end": 264, "referenceAllele": "G", "start": 263 } ], "gene": "http://reg.genome.network/gene/GN004263", "geneNCBI_id": 2690, "geneSymbol": "GHR", "hgvs": [ "NM_001242401.4:c.102G>A" ], "proteinEffect": { "hgvs": "NP_001229330.1:p.Trp34Ter", "hgvsWellDefined": "NP_001229330.1:p.Trp34_Pro638delinsSerLeuGlnSerValAsnProGlyLeuLysThrAsnSerSerLysGluProLysPheThrLysCysArgSerProGluArgGluThrPheSerCysHisTrpThrAspGluValHisHisGlyThrLysAsnLeuGlyProIleGlnLeuPheTyrThrArgArgAsnThrGlnGluTrpThrGlnGluTrpLysGluCysProAspTyrValSerAlaGlyGluAsnSerCysTyrPheAsnSerSerPheThrSerIleTrpIleProTyrCysIleLysLeuThrSerAsnGlyGlyThrValAspGluLysCysPheSerValAspGluIleValGlnProAspProProIleAlaLeuAsnTrpThrLeuLeuAsnValSerLeuThrGlyIleHisAlaAspIleGlnValArgTrpGluAlaProArgAsnAlaAspIleGlnLysGlyTrpMetValLeuGluTyrGluLeuGlnTyrLysGluValAsnGluThrLysTrpLysMetMetAspProIleLeuThrThrSerValProValTyrSerLeuLysValAspLysGluTyrGluValArgValArgSerLysGlnArgAsnSerGlyAsnTyrGlyGluPheSerGluValLeuTyrValThrLeuProGlnMetSerGlnPheThrCysGluGluAspPheTyrPheProTrpLeuLeuIleIleIlePheGlyIlePheGlyLeuThrValMetLeuPheValPheLeuPheSerLysGlnGlnArgIleLysMetLeuIleLeuProProValProValProLysIleLysGlyIleAspProAspLeuLeuLysGluGlyLysLeuGluGluValAsnThrIleLeuAlaIleHisAspSerTyrLysProGluPheHisSerAspAspSerTrpValGluPheIleGluLeuAspIleAspGluProAspGluLysThrGluGluSerAspThrAspArgLeuLeuSerSerAspHisGluLysSerHisSerAsnLeuGlyValLysAspGlyAspSerGlyArgThrSerCysCysGluProAspIleLeuGluThrAspPheAsnAlaAsnAspIleHisGluGlyThrSerGluValAlaGlnProGlnArgLeuLysGlyGluAlaAspLeuLeuCysLeuAspGlnLysAsnGlnAsnAsnSerProTyrHisAspAlaCysProAlaThrGlnGlnProSerValIleGlnAlaGluLysAsnLysProGlnProLeuProThrGluGlyAlaGluSerThrHisGlnAlaAlaHisIleGlnLeuSerAsnProSerSerLeuSerAsnIleAspPheTyrAlaGlnValSerAspIleThrProAlaGlySerValValLeuSerProGlyGlnLysAsnLysAlaGlyMetSerGlnCysAspMetHisProGluMetValSerLeuCysGlnGluAsnPheLeuMetAspAsnAlaTyrPheCysGluAlaAspAlaLysLysCysIleProValAlaProHisIleLysValGluSerHisIleGlnProSerLeuAsnGlnGluAspIleTyrIleThrThrGluSerLeuThrThrAlaAlaGlyArgProGlyThrGlyGluHisValProGlySerGluMetProValProAspTyrThrSerIleHisIleValGlnSerProGlnGlyLeuIleLeuAsnAlaThrAlaLeuProLeuProAspLysGluPheLeuSerSerCysGlyTyrValSerThrAspGlnLeuAsnLysIleMetProTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS680063" }, { "@id": "http://reg.genome.network/allele/PA2826299802", "coordinates": [ { "allele": "A", "end": 193, "referenceAllele": "G", "start": 192 } ], "gene": "http://reg.genome.network/gene/GN004263", "geneNCBI_id": 2690, "geneSymbol": "GHR", "hgvs": [ "NM_001242403.3:c.102G>A" ], "proteinEffect": { "hgvs": "NP_001229332.1:p.Trp34Ter", "hgvsWellDefined": "NP_001229332.1:p.Trp34_Pro638delinsSerLeuGlnSerValAsnProGlyLeuLysThrAsnSerSerLysGluProLysPheThrLysCysArgSerProGluArgGluThrPheSerCysHisTrpThrAspGluValHisHisGlyThrLysAsnLeuGlyProIleGlnLeuPheTyrThrArgArgAsnThrGlnGluTrpThrGlnGluTrpLysGluCysProAspTyrValSerAlaGlyGluAsnSerCysTyrPheAsnSerSerPheThrSerIleTrpIleProTyrCysIleLysLeuThrSerAsnGlyGlyThrValAspGluLysCysPheSerValAspGluIleValGlnProAspProProIleAlaLeuAsnTrpThrLeuLeuAsnValSerLeuThrGlyIleHisAlaAspIleGlnValArgTrpGluAlaProArgAsnAlaAspIleGlnLysGlyTrpMetValLeuGluTyrGluLeuGlnTyrLysGluValAsnGluThrLysTrpLysMetMetAspProIleLeuThrThrSerValProValTyrSerLeuLysValAspLysGluTyrGluValArgValArgSerLysGlnArgAsnSerGlyAsnTyrGlyGluPheSerGluValLeuTyrValThrLeuProGlnMetSerGlnPheThrCysGluGluAspPheTyrPheProTrpLeuLeuIleIleIlePheGlyIlePheGlyLeuThrValMetLeuPheValPheLeuPheSerLysGlnGlnArgIleLysMetLeuIleLeuProProValProValProLysIleLysGlyIleAspProAspLeuLeuLysGluGlyLysLeuGluGluValAsnThrIleLeuAlaIleHisAspSerTyrLysProGluPheHisSerAspAspSerTrpValGluPheIleGluLeuAspIleAspGluProAspGluLysThrGluGluSerAspThrAspArgLeuLeuSerSerAspHisGluLysSerHisSerAsnLeuGlyValLysAspGlyAspSerGlyArgThrSerCysCysGluProAspIleLeuGluThrAspPheAsnAlaAsnAspIleHisGluGlyThrSerGluValAlaGlnProGlnArgLeuLysGlyGluAlaAspLeuLeuCysLeuAspGlnLysAsnGlnAsnAsnSerProTyrHisAspAlaCysProAlaThrGlnGlnProSerValIleGlnAlaGluLysAsnLysProGlnProLeuProThrGluGlyAlaGluSerThrHisGlnAlaAlaHisIleGlnLeuSerAsnProSerSerLeuSerAsnIleAspPheTyrAlaGlnValSerAspIleThrProAlaGlySerValValLeuSerProGlyGlnLysAsnLysAlaGlyMetSerGlnCysAspMetHisProGluMetValSerLeuCysGlnGluAsnPheLeuMetAspAsnAlaTyrPheCysGluAlaAspAlaLysLysCysIleProValAlaProHisIleLysValGluSerHisIleGlnProSerLeuAsnGlnGluAspIleTyrIleThrThrGluSerLeuThrThrAlaAlaGlyArgProGlyThrGlyGluHisValProGlySerGluMetProValProAspTyrThrSerIleHisIleValGlnSerProGlnGlyLeuIleLeuAsnAlaThrAlaLeuProLeuProAspLysGluPheLeuSerSerCysGlyTyrValSerThrAspGlnLeuAsnLysIleMetProTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS714315" } ], "type": "nucleotide" }