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"XP_006720555.1:p.Glu184_Ala447delinsLysLysGlyAsnHisTyrIleLeuAsnGlyAsnLysPheTrpIleThrAsnGlyProAspAlaAspValLeuIleValTyrAlaLysThrAspLeuAlaAlaValProAlaSerArgGlyIleThrAlaPheIleValGluLysGlyMetProGlyPheSerThrSerLysLysLeuAspLysLeuGlyMetArgGlySerAsnThrCysGluLeuIlePheGluAspCysLysIleProAlaAlaAsnIleLeuGlyHisGluAsnLysGlyValTyrValLeuMetSerGlyLeuAspLeuGluArgLeuValLeuAlaGlyGlyProLeuGlyLeuMetGlnAlaValLeuAspHisThrIleProTyrLeuHisValArgGluAlaPheGlyGlnLysIleGlyHisPheGlnLeuMetGlnGlyLysMetAlaAspMetTyrThrArgLeuMetAlaCysArgGlnTyrValTyrAsnValAlaLysAlaCysAspGluGlyHisCysThrAlaLysAspCysAlaGlyValIleLeuTyrSerAlaGluCysAlaThrGlnValAlaLeuAspGlyIleGlnCysPheGlyHisAlaProGlnProPheLeuTyrThrGluProValAsnTyrGlnAlaProArgLysPhePheSerGlySerGlnHisLeuAlaAspLeuPheArgProThrProThrTrpGluGlyGlyArgAspProArgSerAspValProGlyAlaGlyGluHisCysGluGlyThrGluMetGlnAspProProAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS073685" }, { "coordinates": [ { "allele": "T", "end": 550, "referenceAllele": "G", "start": 549 } ], "gene": "http://reg.genome.network/gene/GN006186", "geneNCBI_id": 3712, "geneSymbol": "IVD", "hgvs": [ "XM_006720493.2:c.550G>T" ], "proteinEffect": { "hgvs": "XP_006720556.1:p.Glu184Ter", "hgvsWellDefined": "XP_006720556.1:p.Glu184_Ala418delinsLysLysGlyAsnHisTyrIleLeuAsnGlyAsnLysPheTrpIleThrAsnGlyProAspAlaAspValLeuIleValTyrAlaLysThrAspLeuAlaAlaValProAlaSerArgGlyIleThrAlaPheIleValGluLysGlyMetProGlyPheSerThrSerLysLysLeuAspLysLeuGlyMetArgGlySerAsnThrCysGluLeuIlePheGluAspCysLysIleProAlaAlaAsnIleLeuGlyHisGluAsnLysGlyValTyrValLeuMetSerGlyLeuAspLeuGluArgLeuValLeuAlaGlyGlyProLeuGlyLeuMetGlnAlaValLeuAspHisThrIleProTyrLeuHisValArgGluAlaPheGlyGlnLysIleGlyHisPheGlnLeuMetGlnGlyLysMetAlaAspMetTyrThrArgLeuMetAlaCysArgGlnTyrValTyrAsnValAlaLysAlaCysAspGluGlyHisCysThrAlaLysAspCysAlaGlyValIleLeuTyrSerAlaGluCysAlaThrGlnValAlaLeuAspGlyIleGlnCysPheAspLeuPheArgProThrProThrTrpGluGlyGlyArgAspProArgSerAspValProGlyAlaGlyGluHisCysGluGlyThrGluMetGlnAspProProAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS073686" }, { "coordinates": [ { "allele": "T", "end": 550, "referenceAllele": "G", "start": 549 } ], "gene": "http://reg.genome.network/gene/GN006186", "geneNCBI_id": 3712, "geneSymbol": "IVD", "hgvs": [ "XM_006720494.2:c.550G>T" ], "proteinEffect": { "hgvs": "XP_006720557.1:p.Glu184Ter", "hgvsWellDefined": "XP_006720557.1:p.Glu184_Ser389delinsLysLysGlyAsnHisTyrIleLeuAsnGlyAsnLysPheTrpIleThrAsnGlyProAspAlaAspValLeuIleValTyrAlaLysThrAspLeuAlaAlaValProAlaSerArgGlyIleThrAlaPheIleValGluLysGlyMetProGlyPheSerThrSerLysLysLeuAspLysLeuGlyMetArgGlySerAsnThrCysGluLeuIlePheGluAspCysLysIleProAlaAlaAsnIleLeuGlyHisGluAsnLysGlyValTyrValLeuMetSerGlyLeuAspLeuGluArgLeuValLeuAlaGlyGlyProLeuGlyLeuMetGlnAlaValLeuAspHisThrIleProTyrLeuHisValArgGluAlaPheGlyGlnLysIleGlyHisPheGlnLeuMetGlnGlyLysMetAlaAspMetTyrThrArgLeuMetAlaCysArgGlnTyrValTyrAsnValAlaLysAlaCysAspGluGlyHisCysThrAlaLysAspCysAlaGlyValIleLeuTyrSerAlaGluCysAlaThrGlnValAlaLeuAspGlyIleGlnCysPheValSerArgGlyIleSerSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS073687" }, { "coordinates": [ { "allele": "T", "end": 550, "referenceAllele": "G", "start": 549 } ], "gene": "http://reg.genome.network/gene/GN006186", "geneNCBI_id": 3712, "geneSymbol": "IVD", "hgvs": [ "XM_006720495.2:c.550G>T" ], "proteinEffect": { "hgvs": "XP_006720558.1:p.Glu184Ter", "hgvsWellDefined": "XP_006720558.1:p.Glu184_Arg347delinsLysLysGlyAsnHisTyrIleLeuAsnGlyAsnLysPheTrpIleThrAsnGlyProAspAlaAspValLeuIleValTyrAlaLysThrAspLeuAlaAlaValProAlaSerArgGlyIleThrAlaPheIleValGluLysGlyMetProGlyPheSerThrSerLysLysLeuAspLysLeuGlyMetArgGlySerAsnThrCysGluLeuIlePheGluAspCysLysIleProAlaAlaAsnIleLeuGlyHisGluAsnLysGlyValTyrValLeuMetSerGlyLeuAspLeuGluArgLeuValLeuAlaGlyGlyProLeuGlyLeuMetGlnAlaValLeuAspHisThrIleProTyrLeuHisValArgGluAlaPheGlyGlnLysIleGlyHisPheGlnGlyArgProPheProProAsnThrHisLeuGlyGlyArgAlaArgProGluValArgArgProTrpSerArgTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS073688" }, { "coordinates": [ { "allele": "T", "end": 550, "referenceAllele": "G", "start": 549 } ], "gene": "http://reg.genome.network/gene/GN006186", "geneNCBI_id": 3712, "geneSymbol": "IVD", "hgvs": [ "XM_011521523.1:c.550G>T" ], "proteinEffect": { "hgvs": "XP_011519825.1:p.Glu184Ter", "hgvsWellDefined": "XP_011519825.1:p.Glu184_Ser434delinsLysLysGlyAsnHisTyrIleLeuAsnGlyAsnLysPheTrpIleThrAsnGlyProAspAlaAspValLeuIleValTyrAlaLysThrAspLeuAlaAlaValProAlaSerArgGlyIleThrAlaPheIleValGluLysGlyMetProGlyPheSerThrSerLysLysLeuAspLysLeuGlyMetArgGlySerAsnThrCysGluLeuIlePheGluAspCysLysIleProAlaAlaAsnIleLeuGlyHisGluAsnLysGlyValTyrValLeuMetSerGlyLeuAspLeuGluArgLeuValLeuAlaGlyGlyProLeuGlyLeuMetGlnAlaValLeuAspHisThrIleProTyrLeuHisValArgGluAlaPheGlyGlnLysIleGlyHisPheGlnLeuMetGlnGlyLysMetAlaAspMetTyrThrArgLeuMetAlaCysArgGlnTyrValTyrAsnValAlaLysAlaCysAspGluGlyHisCysThrAlaLysAspCysAlaGlyValIleLeuTyrSerAlaGluCysAlaThrGlnValAlaLeuAspGlyIleGlnCysPheGlyHisAlaProGlnProPheLeuTyrThrGluProValAsnTyrGlnAlaProArgLysPhePheSerGlySerGlnHisLeuGlnProAspAlaProValLeuProTrpLysThrArgGluSerLysGlyTrpIleAspLysTrpGluPheSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS088683" }, { "coordinates": [ { "allele": "T", "end": 550, "referenceAllele": "G", "start": 549 } ], "gene": "http://reg.genome.network/gene/GN006186", "geneNCBI_id": 3712, "geneSymbol": "IVD", "hgvs": [ "XM_011521524.1:c.550G>T" ], "proteinEffect": { "hgvs": "XP_011519826.1:p.Glu184Ter", "hgvsWellDefined": "XP_011519826.1:p.Glu184_Leu279delinsLysLysGlyAsnHisTyrIleLeuAsnGlyAsnLysPheTrpIleThrAsnGlyProAspAlaAspValLeuIleValTyrAlaLysThrAspLeuAlaAlaValProAlaSerArgGlyIleThrAlaPheIleValGluLysGlyMetProGlyPheSerThrSerLysLysLeuAspLysLeuGlyMetArgGlySerAsnThrCysGluLeuIlePheGluAspCysLysIleProValProLeuIleLysValArgArgLeuTrpThrAlaLeuSerLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS088684" }, { "coordinates": [ { "allele": "T", "end": 550, "referenceAllele": "G", "start": 549 } ], "gene": "http://reg.genome.network/gene/GN006186", "geneNCBI_id": 3712, "geneSymbol": "IVD", "hgvs": [ "XR_243097.3:n.550G>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS116437" }, { "coordinates": [ { "allele": "T", "end": 550, "referenceAllele": "G", "start": 549 } ], "gene": "http://reg.genome.network/gene/GN006186", "geneNCBI_id": 3712, "geneSymbol": "IVD", "hgvs": [ "XR_243098.2:n.550G>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS116438" }, { "coordinates": [ { "allele": "T", "end": 651, "referenceAllele": "G", "start": 650 } ], "gene": "http://reg.genome.network/gene/GN006186", "geneNCBI_id": 3712, "geneSymbol": "IVD", "hgvs": [ "XR_429453.2:n.651G>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS118375" }, { "@id": "http://reg.genome.network/allele/PA2825932277", "coordinates": [ { "allele": "T", "end": 484, "referenceAllele": "G", "start": 483 } ], "gene": "http://reg.genome.network/gene/GN006186", "geneNCBI_id": 3712, "geneSymbol": "IVD", "hgvs": [ "NM_001159508.2:c.451G>T" ], "proteinEffect": { "hgvs": "NP_001152980.2:p.Glu151Ter", "hgvsWellDefined": "NP_001152980.2:p.Glu151_His393delinsLysLysGlyAsnHisTyrIleLeuAsnGlyAsnLysPheTrpIleThrAsnGlyProAspAlaAspValLeuIleValTyrAlaLysThrAspLeuAlaAlaValProAlaSerArgGlyIleThrAlaPheIleValGluLysGlyMetProGlyPheSerThrSerLysLysLeuAspLysLeuGlyMetArgGlySerAsnThrCysGluLeuIlePheGluAspCysLysIleProAlaAlaAsnIleLeuGlyHisGluAsnLysGlyValTyrValLeuMetSerGlyLeuAspLeuGluArgLeuValLeuAlaGlyGlyProLeuGlyLeuMetGlnAlaValLeuAspHisThrIleProTyrLeuHisValArgGluAlaPheGlyGlnLysIleGlyHisPheGlnLeuMetGlnGlyLysMetAlaAspMetTyrThrArgLeuMetAlaCysArgGlnTyrValTyrAsnValAlaLysAlaCysAspGluGlyHisCysThrAlaLysAspCysAlaGlyValIleLeuTyrSerAlaGluCysAlaThrGlnValAlaLeuAspGlyIleGlnCysPheGlyGlyAsnGlyTyrIleAsnAspPheProMetGlyArgPheLeuArgAspAlaLysLeuTyrGluIleGlyAlaGlyThrSerGluValArgArgLeuValIleGlyArgAlaPheAsnAlaAspPheHisTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS511627" }, { "@id": "http://reg.genome.network/allele/PA2827879753", "coordinates": [ { "allele": "T", "end": 953, "referenceAllele": "G", "start": 952 } ], "gene": "http://reg.genome.network/gene/GN006186", "geneNCBI_id": 3712, "geneSymbol": "IVD", "hgvs": [ "NM_001354597.2:c.493G>T" ], "proteinEffect": { "hgvs": "NP_001341526.1:p.Glu165Ter", "hgvsWellDefined": "NP_001341526.1:p.Glu165_His407delinsLysLysGlyAsnHisTyrIleLeuAsnGlyAsnLysPheTrpIleThrAsnGlyProAspAlaAspValLeuIleValTyrAlaLysThrAspLeuAlaAlaValProAlaSerArgGlyIleThrAlaPheIleValGluLysGlyMetProGlyPheSerThrSerLysLysLeuAspLysLeuGlyMetArgGlySerAsnThrCysGluLeuIlePheGluAspCysLysIleProAlaAlaAsnIleLeuGlyHisGluAsnLysGlyValTyrValLeuMetSerGlyLeuAspLeuGluArgLeuValLeuAlaGlyGlyProLeuGlyLeuMetGlnAlaValLeuAspHisThrIleProTyrLeuHisValArgGluAlaPheGlyGlnLysIleGlyHisPheGlnLeuMetGlnGlyLysMetAlaAspMetTyrThrArgLeuMetAlaCysArgGlnTyrValTyrAsnValAlaLysAlaCysAspGluGlyHisCysThrAlaLysAspCysAlaGlyValIleLeuTyrSerAlaGluCysAlaThrGlnValAlaLeuAspGlyIleGlnCysPheGlyGlyAsnGlyTyrIleAsnAspPheProMetGlyArgPheLeuArgAspAlaLysLeuTyrGluIleGlyAlaGlyThrSerGluValArgArgLeuValIleGlyArgAlaPheAsnAlaAspPheHisTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS522542" }, { "@id": "http://reg.genome.network/allele/PA2827880127", "coordinates": [ { "allele": "T", "end": 574, "referenceAllele": "G", "start": 573 } ], "gene": "http://reg.genome.network/gene/GN006186", "geneNCBI_id": 3712, "geneSymbol": "IVD", "hgvs": [ "NM_001354598.2:c.541G>T" ], "proteinEffect": { "hgvs": "NP_001341527.2:p.Glu181Ter", "hgvsWellDefined": "NP_001341527.2:p.Glu181_Ala444delinsLysLysGlyAsnHisTyrIleLeuAsnGlyAsnLysPheTrpIleThrAsnGlyProAspAlaAspValLeuIleValTyrAlaLysThrAspLeuAlaAlaValProAlaSerArgGlyIleThrAlaPheIleValGluLysGlyMetProGlyPheSerThrSerLysLysLeuAspLysLeuGlyMetArgGlySerAsnThrCysGluLeuIlePheGluAspCysLysIleProAlaAlaAsnIleLeuGlyHisGluAsnLysGlyValTyrValLeuMetSerGlyLeuAspLeuGluArgLeuValLeuAlaGlyGlyProLeuGlyLeuMetGlnAlaValLeuAspHisThrIleProTyrLeuHisValArgGluAlaPheGlyGlnLysIleGlyHisPheGlnLeuMetGlnGlyLysMetAlaAspMetTyrThrArgLeuMetAlaCysArgGlnTyrValTyrAsnValAlaLysAlaCysAspGluGlyHisCysThrAlaLysAspCysAlaGlyValIleLeuTyrSerAlaGluCysAlaThrGlnValAlaLeuAspGlyIleGlnCysPheGlyHisAlaProGlnProPheLeuTyrThrGluProValAsnTyrGlnAlaProArgLysPhePheSerGlySerGlnHisLeuAlaAspLeuPheArgProThrProThrTrpGluGlyGlyArgAspProArgSerAspValProGlyAlaGlyGluHisCysGluGlyThrGluMetGlnAspProProAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS522543" }, { "@id": "http://reg.genome.network/allele/PA2827880484", "coordinates": [ { "allele": "T", "end": 661, "referenceAllele": "G", "start": 660 } ], "gene": "http://reg.genome.network/gene/GN006186", "geneNCBI_id": 3712, "geneSymbol": "IVD", "hgvs": [ "NM_001354599.2:c.628G>T" ], "proteinEffect": { "hgvs": "NP_001341528.2:p.Glu210Ter", "hgvsWellDefined": "NP_001341528.2:p.Glu210_His452delinsLysLysGlyAsnHisTyrIleLeuAsnGlyAsnLysPheTrpIleThrAsnGlyProAspAlaAspValLeuIleValTyrAlaLysThrAspLeuAlaAlaValProAlaSerArgGlyIleThrAlaPheIleValGluLysGlyMetProGlyPheSerThrSerLysLysLeuAspLysLeuGlyMetArgGlySerAsnThrCysGluLeuIlePheGluAspCysLysIleProAlaAlaAsnIleLeuGlyHisGluAsnLysGlyValTyrValLeuMetSerGlyLeuAspLeuGluArgLeuValLeuAlaGlyGlyProLeuGlyLeuMetGlnAlaValLeuAspHisThrIleProTyrLeuHisValArgGluAlaPheGlyGlnLysIleGlyHisPheGlnLeuMetGlnGlyLysMetAlaAspMetTyrThrArgLeuMetAlaCysArgGlnTyrValTyrAsnValAlaLysAlaCysAspGluGlyHisCysThrAlaLysAspCysAlaGlyValIleLeuTyrSerAlaGluCysAlaThrGlnValAlaLeuAspGlyIleGlnCysPheGlyGlyAsnGlyTyrIleAsnAspPheProMetGlyArgPheLeuArgAspAlaLysLeuTyrGluIleGlyAlaGlyThrSerGluValArgArgLeuValIleGlyArgAlaPheAsnAlaAspPheHisTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS522544" }, { "@id": "http://reg.genome.network/allele/PA2573206470", "coordinates": [ { "allele": "T", "end": 661, "referenceAllele": "G", "start": 660 } ], "gene": "http://reg.genome.network/gene/GN006186", "geneNCBI_id": 3712, "geneSymbol": "IVD", "hgvs": [ "NM_001354600.2:c.628G>T" ], "proteinEffect": { "hgvs": "NP_001341529.2:p.Glu210Ter", "hgvsWellDefined": "NP_001341529.2:p.Glu210_Ala473delinsLysLysGlyAsnHisTyrIleLeuAsnGlyAsnLysPheTrpIleThrAsnGlyProAspAlaAspValLeuIleValTyrAlaLysThrAspLeuAlaAlaValProAlaSerArgGlyIleThrAlaPheIleValGluLysGlyMetProGlyPheSerThrSerLysLysLeuAspLysLeuGlyMetArgGlySerAsnThrCysGluLeuIlePheGluAspCysLysIleProAlaAlaAsnIleLeuGlyHisGluAsnLysGlyValTyrValLeuMetSerGlyLeuAspLeuGluArgLeuValLeuAlaGlyGlyProLeuGlyLeuMetGlnAlaValLeuAspHisThrIleProTyrLeuHisValArgGluAlaPheGlyGlnLysIleGlyHisPheGlnLeuMetGlnGlyLysMetAlaAspMetTyrThrArgLeuMetAlaCysArgGlnTyrValTyrAsnValAlaLysAlaCysAspGluGlyHisCysThrAlaLysAspCysAlaGlyValIleLeuTyrSerAlaGluCysAlaThrGlnValAlaLeuAspGlyIleGlnCysPheGlyHisAlaProGlnProPheLeuTyrThrGluProValAsnTyrGlnAlaProArgLysPhePheSerGlySerGlnHisLeuAlaAspLeuPheArgProThrProThrTrpGluGlyGlyArgAspProArgSerAspValProGlyAlaGlyGluHisCysGluGlyThrGluMetGlnAspProProAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS522545" }, { "@id": "http://reg.genome.network/allele/PA2827881080", "coordinates": [ { "allele": "T", "end": 574, "referenceAllele": "G", "start": 573 } ], "gene": "http://reg.genome.network/gene/GN006186", "geneNCBI_id": 3712, "geneSymbol": "IVD", "hgvs": [ "NM_001354601.2:c.541G>T" ], "proteinEffect": { "hgvs": "NP_001341530.2:p.Glu181Ter", "hgvsWellDefined": "NP_001341530.2:p.Glu181_Cys484delinsLysLysGlyAsnHisTyrIleLeuAsnGlyAsnLysPheTrpIleThrAsnGlyProAspAlaAspValLeuIleValTyrAlaLysThrAspLeuAlaAlaValProAlaSerArgGlyIleThrAlaPheIleValGluLysGlyMetProGlyPheSerThrSerLysLysLeuAspLysLeuGlyMetArgGlySerAsnThrCysGluLeuIlePheGluAspCysLysIleProAlaAlaAsnIleLeuGlyHisGluAsnLysGlyValTyrValLeuMetSerGlyLeuAspLeuGluArgLeuValLeuAlaGlyGlyProLeuGlyLeuMetGlnAlaValLeuAspHisThrIleProTyrLeuHisValArgGluAlaPheGlyGlnLysIleGlyHisPheGlnLeuMetGlnGlyLysMetAlaAspMetTyrThrArgLeuMetAlaCysArgGlnTyrValTyrAsnValAlaLysAlaCysAspGluGlyHisCysThrAlaLysAspCysAlaGlyValIleLeuTyrSerAlaGluCysAlaThrGlnValAlaLeuAspGlyIleGlnCysPheGlyGlnThrPheSerAlaGlnHisProProGlyArgGluGlyGluThrArgGlyGlnThrSerLeuGluGlnValSerThrAlaArgGluLeuArgCysLysIleLeuLeuProGluLeuThrProArgValLeuLeuProGlnLeuAlaSerTrpIleSerAspGlnLysLeuProPheLeuLysIleLeuLeuCysSerProThrSerLeuGlyGlnSerSerLeuAlaGlyPheThrLysLeuArgTrpProTyrProLeuLeuGlnProHisLeuLeuProHisProTyrThrThrAlaLeuHisLeuCysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS522546" }, { "@id": "http://reg.genome.network/allele/PA2829366987", "coordinates": [ { "allele": "T", "end": 574, "referenceAllele": "G", "start": 573 } ], "gene": "http://reg.genome.network/gene/GN006186", "geneNCBI_id": 3712, "geneSymbol": "IVD", "hgvs": [ "NM_002225.4:c.541G>T" ], "proteinEffect": { "hgvs": "NP_002216.3:p.Glu181Ter", "hgvsWellDefined": "NP_002216.3:p.Glu181_His423delinsLysLysGlyAsnHisTyrIleLeuAsnGlyAsnLysPheTrpIleThrAsnGlyProAspAlaAspValLeuIleValTyrAlaLysThrAspLeuAlaAlaValProAlaSerArgGlyIleThrAlaPheIleValGluLysGlyMetProGlyPheSerThrSerLysLysLeuAspLysLeuGlyMetArgGlySerAsnThrCysGluLeuIlePheGluAspCysLysIleProAlaAlaAsnIleLeuGlyHisGluAsnLysGlyValTyrValLeuMetSerGlyLeuAspLeuGluArgLeuValLeuAlaGlyGlyProLeuGlyLeuMetGlnAlaValLeuAspHisThrIleProTyrLeuHisValArgGluAlaPheGlyGlnLysIleGlyHisPheGlnLeuMetGlnGlyLysMetAlaAspMetTyrThrArgLeuMetAlaCysArgGlnTyrValTyrAsnValAlaLysAlaCysAspGluGlyHisCysThrAlaLysAspCysAlaGlyValIleLeuTyrSerAlaGluCysAlaThrGlnValAlaLeuAspGlyIleGlnCysPheGlyGlyAsnGlyTyrIleAsnAspPheProMetGlyArgPheLeuArgAspAlaLysLeuTyrGluIleGlyAlaGlyThrSerGluValArgArgLeuValIleGlyArgAlaPheAsnAlaAspPheHisTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS524972" }, { "coordinates": [ { "allele": "T", "end": 951, "referenceAllele": "G", "start": 950 } ], "gene": "http://reg.genome.network/gene/GN006186", "geneNCBI_id": 3712, 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"http://reg.genome.network/refseq/RS540110" }, { "coordinates": [ { "allele": "T", "end": 669, "referenceAllele": "G", "start": 668 } ], "gene": "http://reg.genome.network/gene/GN006186", "geneNCBI_id": 3712, "geneSymbol": "IVD", "hgvs": [ "XM_017022149.1:c.637G>T" ], "proteinEffect": { "hgvs": "XP_016877638.1:p.Glu213Ter", "hgvsWellDefined": 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661, "referenceAllele": "G", "start": 660 } ], "gene": "http://reg.genome.network/gene/GN006186", "geneNCBI_id": 3712, "geneSymbol": "IVD", "hgvs": [ "NM_001354599.3:c.628G>T" ], "proteinEffect": { "hgvs": "NP_001341528.2:p.Glu210Ter", "hgvsWellDefined": 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"http://reg.genome.network/gene/GN006186", "geneNCBI_id": 3712, "geneSymbol": "IVD", "hgvs": [ "NM_001354600.3:c.628G>T" ], "proteinEffect": { "hgvs": "NP_001341529.2:p.Glu210Ter", "hgvsWellDefined": 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"NP_001341530.2:p.Glu181_Cys484delinsLysLysGlyAsnHisTyrIleLeuAsnGlyAsnLysPheTrpIleThrAsnGlyProAspAlaAspValLeuIleValTyrAlaLysThrAspLeuAlaAlaValProAlaSerArgGlyIleThrAlaPheIleValGluLysGlyMetProGlyPheSerThrSerLysLysLeuAspLysLeuGlyMetArgGlySerAsnThrCysGluLeuIlePheGluAspCysLysIleProAlaAlaAsnIleLeuGlyHisGluAsnLysGlyValTyrValLeuMetSerGlyLeuAspLeuGluArgLeuValLeuAlaGlyGlyProLeuGlyLeuMetGlnAlaValLeuAspHisThrIleProTyrLeuHisValArgGluAlaPheGlyGlnLysIleGlyHisPheGlnLeuMetGlnGlyLysMetAlaAspMetTyrThrArgLeuMetAlaCysArgGlnTyrValTyrAsnValAlaLysAlaCysAspGluGlyHisCysThrAlaLysAspCysAlaGlyValIleLeuTyrSerAlaGluCysAlaThrGlnValAlaLeuAspGlyIleGlnCysPheGlyGlnThrPheSerAlaGlnHisProProGlyArgGluGlyGluThrArgGlyGlnThrSerLeuGluGlnValSerThrAlaArgGluLeuArgCysLysIleLeuLeuProGluLeuThrProArgValLeuLeuProGlnLeuAlaSerTrpIleSerAspGlnLysLeuProPheLeuLysIleLeuLeuCysSerProThrSerLeuGlyGlnSerSerLeuAlaGlyPheThrLysLeuArgTrpProTyrProLeuLeuGlnProHisLeuLeuProHisProTyrThrThrAlaLeuHisLeuCysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS690247" }, { "@id": "http://reg.genome.network/allele/PA2829366987", "coordinates": [ { "allele": "T", "end": 574, "referenceAllele": "G", "start": 573 } ], "gene": "http://reg.genome.network/gene/GN006186", "geneNCBI_id": 3712, "geneSymbol": "IVD", "hgvs": [ "NM_002225.5:c.541G>T" ], "proteinEffect": { "hgvs": "NP_002216.3:p.Glu181Ter", "hgvsWellDefined": "NP_002216.3:p.Glu181_His423delinsLysLysGlyAsnHisTyrIleLeuAsnGlyAsnLysPheTrpIleThrAsnGlyProAspAlaAspValLeuIleValTyrAlaLysThrAspLeuAlaAlaValProAlaSerArgGlyIleThrAlaPheIleValGluLysGlyMetProGlyPheSerThrSerLysLysLeuAspLysLeuGlyMetArgGlySerAsnThrCysGluLeuIlePheGluAspCysLysIleProAlaAlaAsnIleLeuGlyHisGluAsnLysGlyValTyrValLeuMetSerGlyLeuAspLeuGluArgLeuValLeuAlaGlyGlyProLeuGlyLeuMetGlnAlaValLeuAspHisThrIleProTyrLeuHisValArgGluAlaPheGlyGlnLysIleGlyHisPheGlnLeuMetGlnGlyLysMetAlaAspMetTyrThrArgLeuMetAlaCysArgGlnTyrValTyrAsnValAlaLysAlaCysAspGluGlyHisCysThrAlaLysAspCysAlaGlyValIleLeuTyrSerAlaGluCysAlaThrGlnValAlaLeuAspGlyIleGlnCysPheGlyGlyAsnGlyTyrIleAsnAspPheProMetGlyArgPheLeuArgAspAlaLysLeuTyrGluIleGlyAlaGlyThrSerGluValArgArgLeuValIleGlyArgAlaPheAsnAlaAspPheHisTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS695484", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000487418.8:c.541G>T" }, "RefSeq": { "hgvs": "NM_002225.5:c.541G>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000418397.3:p.Glu181Ter" }, "RefSeq": { "hgvs": "NP_002216.3:p.Glu181Ter" } } } }, { "coordinates": [ { "allele": "T", "end": 953, "referenceAllele": "G", "start": 952 } ], "gene": "http://reg.genome.network/gene/GN006186", "geneNCBI_id": 3712, "geneSymbol": "IVD", "hgvs": [ "NR_148925.2:n.953G>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS704888" } ], "type": "nucleotide" }