{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA151372", "communityStandardTitle": [ "NM_001130682.3(GUCY1A1):c.1045C>T (p.Arg349Ter)" ], "externalRecords": { "ClinVarAlleles": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=132604[alleleid]", "alleleId": 132604, "preferredName": "NM_001130682.3(GUCY1A1):c.1045C>T (p.Arg349Ter)" } ], "ClinVarVariations": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/127095", "RCV": [ "RCV000114953" ], "variationId": 127095 } ], "ExAC": [ { "@id": "http://exac.broadinstitute.org/variant/4-156632362-C-T", "id": "4-156632362-C-T", "variant": "4:156632362 C / T" } ], "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chr4:g.156632362C>T?assembly=hg19", "id": "chr4:g.156632362C>T" } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chr4:g.155711210C>T?assembly=hg38", "id": "chr4:g.155711210C>T" } ], "dbSNP": [ { "@id": "http://www.ncbi.nlm.nih.gov/snp/587777321", "rs": 587777321 } ], "gnomAD_2": [ { "@id": "http://gnomad.broadinstitute.org/variant/4-156632362-C-T?dataset=gnomad_r2_1", "id": "4-156632362-C-T", "variant": "4:156632362 C / T" } ], "gnomAD_4": [ { "@id": "http://gnomad.broadinstitute.org/variant/4-155711210-C-T?dataset=gnomad_r4", "id": "4-155711210-C-T", "variant": "4:155711210 C / T" } ] }, "genomicAlleles": [ { "chromosome": "4", "coordinates": [ { "allele": "T", "end": 155711210, "referenceAllele": "C", "start": 155711209 } ], "hgvs": [ "NC_000004.12:g.155711210C>T", "CM000666.2:g.155711210C>T" ], "referenceGenome": "GRCh38", "referenceSequence": "http://reg.genome.network/refseq/RS000052" }, { "chromosome": "4", "coordinates": [ { "allele": "T", "end": 156632362, "referenceAllele": "C", "start": 156632361 } ], "hgvs": [ "NC_000004.11:g.156632362C>T", "CM000666.1:g.156632362C>T" ], "referenceGenome": "GRCh37", "referenceSequence": "http://reg.genome.network/refseq/RS000028" }, { 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"ENSP00000424361.1:p.Arg349_Asp690delinsValArgArgTrpAspAsnSerValLysLysSerSerArgValMetAspLeuLysGlyGlnMetIleTyrIleValGluSerSerAlaIleLeuPheLeuGlySerProCysValAspArgLeuGluAspPheThrGlyArgGlyLeuTyrLeuSerAspIleProIleHisAsnAlaLeuArgAspValValLeuIleGlyGluGlnAlaArgAlaGlnAspGlyLeuLysLysArgLeuGlyLysLeuLysAlaThrLeuGluGlnAlaHisGlnAlaLeuGluGluGluLysLysLysThrValAspLeuLeuCysSerIlePheProCysGluValAlaGlnGlnLeuTrpGlnGlyGlnValValGlnAlaLysLysPheSerAsnValThrMetLeuPheSerAspIleValGlyPheThrAlaIleCysSerGlnCysSerProLeuGlnValIleThrMetLeuAsnAlaLeuTyrThrArgPheAspGlnGlnCysGlyGluLeuAspValTyrLysValGluThrIleGlyAspAlaTyrCysValAlaGlyGlyLeuHisLysGluSerAspThrHisAlaValGlnIleAlaLeuMetAlaLeuLysMetMetGluLeuSerAspGluValMetSerProHisGlyGluProIleLysMetArgIleGlyLeuHisSerGlySerValPheAlaGlyValValGlyValLysMetProArgTyrCysLeuPheGlyAsnAsnValThrLeuAlaAsnLysPheGluSerCysSerValProArgLysIleAsnValSerProThrThrTyrArgLeuLeuLysAspCysProGlyPheValPheThrProArgSerArgGluGluLeuProProAsnPheProSerGluIleProGlyIleCysHisPheLeuAspAlaTyrGlnGlnGlyThrAsnSerLysProCysPheGlnLysLysAspValGluAspGlyAsnAlaAsnPheLeuGlyLysAlaSerGlyIleAspTer" 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}, "referenceSequence": "http://reg.genome.network/refseq/RS254324" }, { "coordinates": [ { "allele": "T", "end": 1144, "referenceAllele": "C", "start": 1143 } ], "gene": "http://reg.genome.network/gene/GN004685", "geneNCBI_id": 2982, "geneSymbol": "GUCY1A1", "hgvs": [ "ENST00000393832.7:c.271C>T" ], "proteinEffect": { "hgvs": "ENSP00000377418.3:p.Arg91Ter", "hgvsWellDefined": "ENSP00000377418.3:p.Arg91_Asp432delinsValArgArgTrpAspAsnSerValLysLysSerSerArgValMetAspLeuLysGlyGlnMetIleTyrIleValGluSerSerAlaIleLeuPheLeuGlySerProCysValAspArgLeuGluAspPheThrGlyArgGlyLeuTyrLeuSerAspIleProIleHisAsnAlaLeuArgAspValValLeuIleGlyGluGlnAlaArgAlaGlnAspGlyLeuLysLysArgLeuGlyLysLeuLysAlaThrLeuGluGlnAlaHisGlnAlaLeuGluGluGluLysLysLysThrValAspLeuLeuCysSerIlePheProCysGluValAlaGlnGlnLeuTrpGlnGlyGlnValValGlnAlaLysLysPheSerAsnValThrMetLeuPheSerAspIleValGlyPheThrAlaIleCysSerGlnCysSerProLeuGlnValIleThrMetLeuAsnAlaLeuTyrThrArgPheAspGlnGlnCysGlyGluLeuAspValTyrLysValGluThrIleGlyAspAlaTyrCysValAlaGlyGlyLeuHisLysGluSerAspThrHisAlaValGlnIleAlaLeuMetAlaLeuLysMetMetGluLeuSerAspGluValMetSerProHisGlyGluProIleLysMetArgIleGlyLeuHisSerGlySerValPheAlaGlyValValGlyValLysMetProArgTyrCysLeuPheGlyAsnAsnValThrLeuAlaAsnLysPheGluSerCysSerValProArgLysIleAsnValSerProThrThrTyrArgLeuLeuLysAspCysProGlyPheValPheThrProArgSerArgGluGluLeuProProAsnPheProSerGluIleProGlyIleCysHisPheLeuAspAlaTyrGlnGlnGlyThrAsnSerLysProCysPheGlnLysLysAspValGluAspGlyAsnAlaAsnPheLeuGlyLysAlaSerGlyIleAspTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS275837" }, { "coordinates": [ { "allele": "T", "end": 1208, "referenceAllele": "C", "start": 1207 } ], "gene": "http://reg.genome.network/gene/GN004685", "geneNCBI_id": 2982, "geneSymbol": "GUCY1A1", "hgvs": [ "ENST00000443668.6:c.*488C>T" ], "proteinEffect": { "hgvs": "ENSP00000409903.2:n.*488C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS297452" }, { "coordinates": [ { "allele": "T", "end": 1418, "referenceAllele": "C", "start": 1417 } ], "gene": "http://reg.genome.network/gene/GN004685", "geneNCBI_id": 2982, "geneSymbol": "GUCY1A1", "hgvs": [ "ENST00000455639.6:c.1045C>T" ], "proteinEffect": { "hgvs": "ENSP00000412201.2:p.Arg349Ter", "hgvsWellDefined": "ENSP00000412201.2:p.Arg349_Asp690delinsValArgArgTrpAspAsnSerValLysLysSerSerArgValMetAspLeuLysGlyGlnMetIleTyrIleValGluSerSerAlaIleLeuPheLeuGlySerProCysValAspArgLeuGluAspPheThrGlyArgGlyLeuTyrLeuSerAspIleProIleHisAsnAlaLeuArgAspValValLeuIleGlyGluGlnAlaArgAlaGlnAspGlyLeuLysLysArgLeuGlyLysLeuLysAlaThrLeuGluGlnAlaHisGlnAlaLeuGluGluGluLysLysLysThrValAspLeuLeuCysSerIlePheProCysGluValAlaGlnGlnLeuTrpGlnGlyGlnValValGlnAlaLysLysPheSerAsnValThrMetLeuPheSerAspIleValGlyPheThrAlaIleCysSerGlnCysSerProLeuGlnValIleThrMetLeuAsnAlaLeuTyrThrArgPheAspGlnGlnCysGlyGluLeuAspValTyrLysValGluThrIleGlyAspAlaTyrCysValAlaGlyGlyLeuHisLysGluSerAspThrHisAlaValGlnIleAlaLeuMetAlaLeuLysMetMetGluLeuSerAspGluValMetSerProHisGlyGluProIleLysMetArgIleGlyLeuHisSerGlySerValPheAlaGlyValValGlyValLysMetProArgTyrCysLeuPheGlyAsnAsnValThrLeuAlaAsnLysPheGluSerCysSerValProArgLysIleAsnValSerProThrThrTyrArgLeuLeuLysAspCysProGlyPheValPheThrProArgSerArgGluGluLeuProProAsnPheProSerGluIleProGlyIleCysHisPheLeuAspAlaTyrGlnGlnGlyThrAsnSerLysProCysPheGlnLysLysAspValGluAspGlyAsnAlaAsnPheLeuGlyLysAlaSerGlyIleAspTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS303141" }, { "coordinates": [ { "allele": "T", "end": 1486, "referenceAllele": "C", "start": 1485 } ], "gene": "http://reg.genome.network/gene/GN004685", "geneNCBI_id": 2982, "geneSymbol": "GUCY1A1", "hgvs": [ "ENST00000506455.5:c.1045C>T" ], "proteinEffect": { "hgvs": "ENSP00000424361.1:p.Arg349Ter", "hgvsWellDefined": "ENSP00000424361.1:p.Arg349_Asp690delinsValArgArgTrpAspAsnSerValLysLysSerSerArgValMetAspLeuLysGlyGlnMetIleTyrIleValGluSerSerAlaIleLeuPheLeuGlySerProCysValAspArgLeuGluAspPheThrGlyArgGlyLeuTyrLeuSerAspIleProIleHisAsnAlaLeuArgAspValValLeuIleGlyGluGlnAlaArgAlaGlnAspGlyLeuLysLysArgLeuGlyLysLeuLysAlaThrLeuGluGlnAlaHisGlnAlaLeuGluGluGluLysLysLysThrValAspLeuLeuCysSerIlePheProCysGluValAlaGlnGlnLeuTrpGlnGlyGlnValValGlnAlaLysLysPheSerAsnValThrMetLeuPheSerAspIleValGlyPheThrAlaIleCysSerGlnCysSerProLeuGlnValIleThrMetLeuAsnAlaLeuTyrThrArgPheAspGlnGlnCysGlyGluLeuAspValTyrLysValGluThrIleGlyAspAlaTyrCysValAlaGlyGlyLeuHisLysGluSerAspThrHisAlaValGlnIleAlaLeuMetAlaLeuLysMetMetGluLeuSerAspGluValMetSerProHisGlyGluProIleLysMetArgIleGlyLeuHisSerGlySerValPheAlaGlyValValGlyValLysMetProArgTyrCysLeuPheGlyAsnAsnValThrLeuAlaAsnLysPheGluSerCysSerValProArgLysIleAsnValSerProThrThrTyrArgLeuLeuLysAspCysProGlyPheValPheThrProArgSerArgGluGluLeuProProAsnPheProSerGluIleProGlyIleCysHisPheLeuAspAlaTyrGlnGlnGlyThrAsnSerLysProCysPheGlnLysLysAspValGluAspGlyAsnAlaAsnPheLeuGlyLysAlaSerGlyIleAspTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS337989" }, { "coordinates": [ { "allele": "T", "end": 558, "endIntronDirection": "-", "endIntronOffset": 5948, "referenceAllele": "C", "start": 558, "startIntronDirection": "-", "startIntronOffset": 5949 } ], "gene": "http://reg.genome.network/gene/GN004685", "geneNCBI_id": 2982, "geneSymbol": "GUCY1A1", "hgvs": [ "ENST00000509901.5:c.194-5949C>T" ], "proteinEffect": { "hgvs": "ENSP00000424863.1:n.194-5949C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS340558" }, { "coordinates": [ { "allele": "T", "end": 1565, "referenceAllele": "C", "start": 1564 } ], "gene": "http://reg.genome.network/gene/GN004685", "geneNCBI_id": 2982, "geneSymbol": "GUCY1A1", "hgvs": [ "ENST00000511108.5:c.1045C>T" ], "proteinEffect": { "hgvs": "ENSP00000421493.1:p.Arg349Ter", "hgvsWellDefined": "ENSP00000421493.1:p.Arg349_Asp690delinsValArgArgTrpAspAsnSerValLysLysSerSerArgValMetAspLeuLysGlyGlnMetIleTyrIleValGluSerSerAlaIleLeuPheLeuGlySerProCysValAspArgLeuGluAspPheThrGlyArgGlyLeuTyrLeuSerAspIleProIleHisAsnAlaLeuArgAspValValLeuIleGlyGluGlnAlaArgAlaGlnAspGlyLeuLysLysArgLeuGlyLysLeuLysAlaThrLeuGluGlnAlaHisGlnAlaLeuGluGluGluLysLysLysThrValAspLeuLeuCysSerIlePheProCysGluValAlaGlnGlnLeuTrpGlnGlyGlnValValGlnAlaLysLysPheSerAsnValThrMetLeuPheSerAspIleValGlyPheThrAlaIleCysSerGlnCysSerProLeuGlnValIleThrMetLeuAsnAlaLeuTyrThrArgPheAspGlnGlnCysGlyGluLeuAspValTyrLysValGluThrIleGlyAspAlaTyrCysValAlaGlyGlyLeuHisLysGluSerAspThrHisAlaValGlnIleAlaLeuMetAlaLeuLysMetMetGluLeuSerAspGluValMetSerProHisGlyGluProIleLysMetArgIleGlyLeuHisSerGlySerValPheAlaGlyValValGlyValLysMetProArgTyrCysLeuPheGlyAsnAsnValThrLeuAlaAsnLysPheGluSerCysSerValProArgLysIleAsnValSerProThrThrTyrArgLeuLeuLysAspCysProGlyPheValPheThrProArgSerArgGluGluLeuProProAsnPheProSerGluIleProGlyIleCysHisPheLeuAspAlaTyrGlnGlnGlyThrAsnSerLysProCysPheGlnLysLysAspValGluAspGlyAsnAlaAsnPheLeuGlyLysAlaSerGlyIleAspTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS341444" }, { "coordinates": [ { "allele": "T", "end": 1349, "referenceAllele": "C", "start": 1348 } ], "gene": "http://reg.genome.network/gene/GN004685", "geneNCBI_id": 2982, "geneSymbol": "GUCY1A1", "hgvs": [ "ENST00000511507.5:c.1045C>T" ], "proteinEffect": { "hgvs": "ENSP00000426968.1:p.Arg349Ter", "hgvsWellDefined": "ENSP00000426968.1:p.Arg349_Arg624delinsValArgArgTrpAspAsnSerValLysLysSerSerArgValMetAspLeuLysGlyGlnMetIleTyrIleValGluSerSerAlaIleLeuPheLeuGlySerProCysValAspArgLeuGluAspPheThrGlyArgGlyLeuTyrLeuSerAspIleProIleHisAsnAlaLeuArgAspValValLeuIleGlyGluGlnAlaArgAlaGlnAspGlyLeuLysLysArgLeuGlyLysLeuLysAlaThrLeuGluGlnAlaHisGlnAlaLeuGluGluGluLysLysLysThrValAspLeuLeuCysSerIlePheProCysGluValAlaGlnGlnLeuTrpGlnGlyGlnValValGlnAlaLysLysPheSerAsnValThrMetLeuPheSerAspIleValGlyPheThrAlaIleCysSerGlnCysSerProLeuGlnValIleThrMetLeuAsnAlaLeuTyrThrArgPheAspGlnGlnCysGlyGluLeuAspValTyrLysValGluThrIleGlyAspAlaTyrCysValAlaGlyGlyLeuHisLysGluSerAspThrHisAlaValGlnIleAlaLeuMetAlaLeuLysMetMetGluLeuSerAspGluValMetSerProHisGlyGluProIleLysMetArgIleGlyLeuHisSerGlySerValPheAlaGlyValValGlyValLysMetProArgTyrCysLeuPheGlyAsnAsnValThrLeuAlaAsnLysPheGluSerCysSerValProArgLysIleAsnValSerProThrThrTyrArgTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS341760" }, { "coordinates": [ { "allele": "T", "end": 1369, "referenceAllele": "C", "start": 1368 } ], "gene": "http://reg.genome.network/gene/GN004685", "geneNCBI_id": 2982, "geneSymbol": "GUCY1A1", "hgvs": [ "ENST00000512983.5:n.1369C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS342836" }, { "coordinates": [ { "allele": "T", "end": 1427, "referenceAllele": "C", "start": 1426 } ], "gene": "http://reg.genome.network/gene/GN004685", "geneNCBI_id": 2982, "geneSymbol": "GUCY1A1", "hgvs": [ "ENST00000513574.1:c.1045C>T" ], "proteinEffect": { "hgvs": "ENSP00000426040.1:p.Arg349Ter", "hgvsWellDefined": "ENSP00000426040.1:p.Arg349_Asp690delinsValArgArgTrpAspAsnSerValLysLysSerSerArgValMetAspLeuLysGlyGlnMetIleTyrIleValGluSerSerAlaIleLeuPheLeuGlySerProCysValAspArgLeuGluAspPheThrGlyArgGlyLeuTyrLeuSerAspIleProIleHisAsnAlaLeuArgAspValValLeuIleGlyGluGlnAlaArgAlaGlnAspGlyLeuLysLysArgLeuGlyLysLeuLysAlaThrLeuGluGlnAlaHisGlnAlaLeuGluGluGluLysLysLysThrValAspLeuLeuCysSerIlePheProCysGluValAlaGlnGlnLeuTrpGlnGlyGlnValValGlnAlaLysLysPheSerAsnValThrMetLeuPheSerAspIleValGlyPheThrAlaIleCysSerGlnCysSerProLeuGlnValIleThrMetLeuAsnAlaLeuTyrThrArgPheAspGlnGlnCysGlyGluLeuAspValTyrLysValGluThrIleGlyAspAlaTyrCysValAlaGlyGlyLeuHisLysGluSerAspThrHisAlaValGlnIleAlaLeuMetAlaLeuLysMetMetGluLeuSerAspGluValMetSerProHisGlyGluProIleLysMetArgIleGlyLeuHisSerGlySerValPheAlaGlyValValGlyValLysMetProArgTyrCysLeuPheGlyAsnAsnValThrLeuAlaAsnLysPheGluSerCysSerValProArgLysIleAsnValSerProThrThrTyrArgLeuLeuLysAspCysProGlyPheValPheThrProArgSerArgGluGluLeuProProAsnPheProSerGluIleProGlyIleCysHisPheLeuAspAlaTyrGlnGlnGlyThrAsnSerLysProCysPheGlnLysLysAspValGluAspGlyAsnAlaAsnPheLeuGlyLysAlaSerGlyIleAspTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS343282" }, { "coordinates": [ { "allele": "T", "end": 570, "endIntronDirection": "+", "endIntronOffset": 2916, "referenceAllele": "C", "start": 570, "startIntronDirection": "+", "startIntronOffset": 2915 } ], "gene": "http://reg.genome.network/gene/GN004685", "geneNCBI_id": 2982, "geneSymbol": "GUCY1A1", "hgvs": [ "ENST00000515201.5:c.376+2916C>T" ], "proteinEffect": { "hgvs": "ENSP00000422141.1:n.376+2916C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS344498" }, { "coordinates": [ { "allele": "T", "end": 896, "endIntronDirection": "+", "endIntronOffset": 2916, "referenceAllele": "C", "start": 896, "startIntronDirection": "+", "startIntronOffset": 2915 } ], "gene": "http://reg.genome.network/gene/GN004685", "geneNCBI_id": 2982, "geneSymbol": "GUCY1A1", "hgvs": [ "ENST00000621234.4:c.376+2916C>T" ], "proteinEffect": { "hgvs": "ENSP00000479710.1:n.376+2916C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS405181" }, { "@id": "http://reg.genome.network/allele/PA151373", "coordinates": [ { "allele": "T", "end": 1581, "referenceAllele": "C", "start": 1580 } ], "gene": "http://reg.genome.network/gene/GN004685", "geneNCBI_id": 2982, "geneSymbol": "GUCY1A1", "hgvs": [ "NM_000856.5:c.1045C>T" ], "proteinEffect": { "hgvs": "NP_000847.2:p.Arg349Ter", "hgvsWellDefined": "NP_000847.2:p.Arg349_Asp690delinsValArgArgTrpAspAsnSerValLysLysSerSerArgValMetAspLeuLysGlyGlnMetIleTyrIleValGluSerSerAlaIleLeuPheLeuGlySerProCysValAspArgLeuGluAspPheThrGlyArgGlyLeuTyrLeuSerAspIleProIleHisAsnAlaLeuArgAspValValLeuIleGlyGluGlnAlaArgAlaGlnAspGlyLeuLysLysArgLeuGlyLysLeuLysAlaThrLeuGluGlnAlaHisGlnAlaLeuGluGluGluLysLysLysThrValAspLeuLeuCysSerIlePheProCysGluValAlaGlnGlnLeuTrpGlnGlyGlnValValGlnAlaLysLysPheSerAsnValThrMetLeuPheSerAspIleValGlyPheThrAlaIleCysSerGlnCysSerProLeuGlnValIleThrMetLeuAsnAlaLeuTyrThrArgPheAspGlnGlnCysGlyGluLeuAspValTyrLysValGluThrIleGlyAspAlaTyrCysValAlaGlyGlyLeuHisLysGluSerAspThrHisAlaValGlnIleAlaLeuMetAlaLeuLysMetMetGluLeuSerAspGluValMetSerProHisGlyGluProIleLysMetArgIleGlyLeuHisSerGlySerValPheAlaGlyValValGlyValLysMetProArgTyrCysLeuPheGlyAsnAsnValThrLeuAlaAsnLysPheGluSerCysSerValProArgLysIleAsnValSerProThrThrTyrArgLeuLeuLysAspCysProGlyPheValPheThrProArgSerArgGluGluLeuProProAsnPheProSerGluIleProGlyIleCysHisPheLeuAspAlaTyrGlnGlnGlyThrAsnSerLysProCysPheGlnLysLysAspValGluAspGlyAsnAlaAsnPheLeuGlyLysAlaSerGlyIleAspTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS006884" }, { "@id": "http://reg.genome.network/allele/PA2825697148", "coordinates": [ { "allele": "T", "end": 1487, "referenceAllele": "C", "start": 1486 } ], "gene": "http://reg.genome.network/gene/GN004685", "geneNCBI_id": 2982, "geneSymbol": "GUCY1A1", "hgvs": [ "NM_001130682.2:c.1045C>T" ], "proteinEffect": { "hgvs": "NP_001124154.1:p.Arg349Ter", "hgvsWellDefined": "NP_001124154.1:p.Arg349_Asp690delinsValArgArgTrpAspAsnSerValLysLysSerSerArgValMetAspLeuLysGlyGlnMetIleTyrIleValGluSerSerAlaIleLeuPheLeuGlySerProCysValAspArgLeuGluAspPheThrGlyArgGlyLeuTyrLeuSerAspIleProIleHisAsnAlaLeuArgAspValValLeuIleGlyGluGlnAlaArgAlaGlnAspGlyLeuLysLysArgLeuGlyLysLeuLysAlaThrLeuGluGlnAlaHisGlnAlaLeuGluGluGluLysLysLysThrValAspLeuLeuCysSerIlePheProCysGluValAlaGlnGlnLeuTrpGlnGlyGlnValValGlnAlaLysLysPheSerAsnValThrMetLeuPheSerAspIleValGlyPheThrAlaIleCysSerGlnCysSerProLeuGlnValIleThrMetLeuAsnAlaLeuTyrThrArgPheAspGlnGlnCysGlyGluLeuAspValTyrLysValGluThrIleGlyAspAlaTyrCysValAlaGlyGlyLeuHisLysGluSerAspThrHisAlaValGlnIleAlaLeuMetAlaLeuLysMetMetGluLeuSerAspGluValMetSerProHisGlyGluProIleLysMetArgIleGlyLeuHisSerGlySerValPheAlaGlyValValGlyValLysMetProArgTyrCysLeuPheGlyAsnAsnValThrLeuAlaAsnLysPheGluSerCysSerValProArgLysIleAsnValSerProThrThrTyrArgLeuLeuLysAspCysProGlyPheValPheThrProArgSerArgGluGluLeuProProAsnPheProSerGluIleProGlyIleCysHisPheLeuAspAlaTyrGlnGlnGlyThrAsnSerLysProCysPheGlnLysLysAspValGluAspGlyAsnAlaAsnPheLeuGlyLysAlaSerGlyIleAspTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS012050" }, { "@id": "http://reg.genome.network/allele/PA2825697255", "coordinates": [ { "allele": "T", "end": 1455, "referenceAllele": "C", "start": 1454 } ], "gene": "http://reg.genome.network/gene/GN004685", "geneNCBI_id": 2982, "geneSymbol": "GUCY1A1", "hgvs": [ "NM_001130683.3:c.1045C>T" ], "proteinEffect": { "hgvs": "NP_001124155.1:p.Arg349Ter", "hgvsWellDefined": "NP_001124155.1:p.Arg349_Asp690delinsValArgArgTrpAspAsnSerValLysLysSerSerArgValMetAspLeuLysGlyGlnMetIleTyrIleValGluSerSerAlaIleLeuPheLeuGlySerProCysValAspArgLeuGluAspPheThrGlyArgGlyLeuTyrLeuSerAspIleProIleHisAsnAlaLeuArgAspValValLeuIleGlyGluGlnAlaArgAlaGlnAspGlyLeuLysLysArgLeuGlyLysLeuLysAlaThrLeuGluGlnAlaHisGlnAlaLeuGluGluGluLysLysLysThrValAspLeuLeuCysSerIlePheProCysGluValAlaGlnGlnLeuTrpGlnGlyGlnValValGlnAlaLysLysPheSerAsnValThrMetLeuPheSerAspIleValGlyPheThrAlaIleCysSerGlnCysSerProLeuGlnValIleThrMetLeuAsnAlaLeuTyrThrArgPheAspGlnGlnCysGlyGluLeuAspValTyrLysValGluThrIleGlyAspAlaTyrCysValAlaGlyGlyLeuHisLysGluSerAspThrHisAlaValGlnIleAlaLeuMetAlaLeuLysMetMetGluLeuSerAspGluValMetSerProHisGlyGluProIleLysMetArgIleGlyLeuHisSerGlySerValPheAlaGlyValValGlyValLysMetProArgTyrCysLeuPheGlyAsnAsnValThrLeuAlaAsnLysPheGluSerCysSerValProArgLysIleAsnValSerProThrThrTyrArgLeuLeuLysAspCysProGlyPheValPheThrProArgSerArgGluGluLeuProProAsnPheProSerGluIleProGlyIleCysHisPheLeuAspAlaTyrGlnGlnGlyThrAsnSerLysProCysPheGlnLysLysAspValGluAspGlyAsnAlaAsnPheLeuGlyLysAlaSerGlyIleAspTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS012051" }, { "@id": "http://reg.genome.network/allele/PA2825697370", "coordinates": [ { "allele": "T", "end": 1427, "referenceAllele": "C", "start": 1426 } ], "gene": "http://reg.genome.network/gene/GN004685", "geneNCBI_id": 2982, "geneSymbol": "GUCY1A1", "hgvs": [ "NM_001130684.2:c.1045C>T" ], "proteinEffect": { "hgvs": "NP_001124156.1:p.Arg349Ter", "hgvsWellDefined": "NP_001124156.1:p.Arg349_Asp690delinsValArgArgTrpAspAsnSerValLysLysSerSerArgValMetAspLeuLysGlyGlnMetIleTyrIleValGluSerSerAlaIleLeuPheLeuGlySerProCysValAspArgLeuGluAspPheThrGlyArgGlyLeuTyrLeuSerAspIleProIleHisAsnAlaLeuArgAspValValLeuIleGlyGluGlnAlaArgAlaGlnAspGlyLeuLysLysArgLeuGlyLysLeuLysAlaThrLeuGluGlnAlaHisGlnAlaLeuGluGluGluLysLysLysThrValAspLeuLeuCysSerIlePheProCysGluValAlaGlnGlnLeuTrpGlnGlyGlnValValGlnAlaLysLysPheSerAsnValThrMetLeuPheSerAspIleValGlyPheThrAlaIleCysSerGlnCysSerProLeuGlnValIleThrMetLeuAsnAlaLeuTyrThrArgPheAspGlnGlnCysGlyGluLeuAspValTyrLysValGluThrIleGlyAspAlaTyrCysValAlaGlyGlyLeuHisLysGluSerAspThrHisAlaValGlnIleAlaLeuMetAlaLeuLysMetMetGluLeuSerAspGluValMetSerProHisGlyGluProIleLysMetArgIleGlyLeuHisSerGlySerValPheAlaGlyValValGlyValLysMetProArgTyrCysLeuPheGlyAsnAsnValThrLeuAlaAsnLysPheGluSerCysSerValProArgLysIleAsnValSerProThrThrTyrArgLeuLeuLysAspCysProGlyPheValPheThrProArgSerArgGluGluLeuProProAsnPheProSerGluIleProGlyIleCysHisPheLeuAspAlaTyrGlnGlnGlyThrAsnSerLysProCysPheGlnLysLysAspValGluAspGlyAsnAlaAsnPheLeuGlyLysAlaSerGlyIleAspTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS012052" }, { "@id": "http://reg.genome.network/allele/PA2825697437", "coordinates": [ { "allele": "T", "end": 1276, "referenceAllele": "C", "start": 1275 } ], "gene": "http://reg.genome.network/gene/GN004685", "geneNCBI_id": 2982, "geneSymbol": "GUCY1A1", "hgvs": [ "NM_001130685.2:c.340C>T" ], "proteinEffect": { "hgvs": "NP_001124157.1:p.Arg114Ter", "hgvsWellDefined": "NP_001124157.1:p.Arg114_Asp455delinsValArgArgTrpAspAsnSerValLysLysSerSerArgValMetAspLeuLysGlyGlnMetIleTyrIleValGluSerSerAlaIleLeuPheLeuGlySerProCysValAspArgLeuGluAspPheThrGlyArgGlyLeuTyrLeuSerAspIleProIleHisAsnAlaLeuArgAspValValLeuIleGlyGluGlnAlaArgAlaGlnAspGlyLeuLysLysArgLeuGlyLysLeuLysAlaThrLeuGluGlnAlaHisGlnAlaLeuGluGluGluLysLysLysThrValAspLeuLeuCysSerIlePheProCysGluValAlaGlnGlnLeuTrpGlnGlyGlnValValGlnAlaLysLysPheSerAsnValThrMetLeuPheSerAspIleValGlyPheThrAlaIleCysSerGlnCysSerProLeuGlnValIleThrMetLeuAsnAlaLeuTyrThrArgPheAspGlnGlnCysGlyGluLeuAspValTyrLysValGluThrIleGlyAspAlaTyrCysValAlaGlyGlyLeuHisLysGluSerAspThrHisAlaValGlnIleAlaLeuMetAlaLeuLysMetMetGluLeuSerAspGluValMetSerProHisGlyGluProIleLysMetArgIleGlyLeuHisSerGlySerValPheAlaGlyValValGlyValLysMetProArgTyrCysLeuPheGlyAsnAsnValThrLeuAlaAsnLysPheGluSerCysSerValProArgLysIleAsnValSerProThrThrTyrArgLeuLeuLysAspCysProGlyPheValPheThrProArgSerArgGluGluLeuProProAsnPheProSerGluIleProGlyIleCysHisPheLeuAspAlaTyrGlnGlnGlyThrAsnSerLysProCysPheGlnLysLysAspValGluAspGlyAsnAlaAsnPheLeuGlyLysAlaSerGlyIleAspTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS012053" }, { "@id": "http://reg.genome.network/allele/PA2825697536", "coordinates": [ { "allele": "T", "end": 1487, "referenceAllele": "C", "start": 1486 } ], "gene": "http://reg.genome.network/gene/GN004685", "geneNCBI_id": 2982, "geneSymbol": "GUCY1A1", "hgvs": [ "NM_001130687.2:c.1045C>T" ], "proteinEffect": { "hgvs": "NP_001124159.1:p.Arg349Ter", "hgvsWellDefined": "NP_001124159.1:p.Arg349_Arg624delinsValArgArgTrpAspAsnSerValLysLysSerSerArgValMetAspLeuLysGlyGlnMetIleTyrIleValGluSerSerAlaIleLeuPheLeuGlySerProCysValAspArgLeuGluAspPheThrGlyArgGlyLeuTyrLeuSerAspIleProIleHisAsnAlaLeuArgAspValValLeuIleGlyGluGlnAlaArgAlaGlnAspGlyLeuLysLysArgLeuGlyLysLeuLysAlaThrLeuGluGlnAlaHisGlnAlaLeuGluGluGluLysLysLysThrValAspLeuLeuCysSerIlePheProCysGluValAlaGlnGlnLeuTrpGlnGlyGlnValValGlnAlaLysLysPheSerAsnValThrMetLeuPheSerAspIleValGlyPheThrAlaIleCysSerGlnCysSerProLeuGlnValIleThrMetLeuAsnAlaLeuTyrThrArgPheAspGlnGlnCysGlyGluLeuAspValTyrLysValGluThrIleGlyAspAlaTyrCysValAlaGlyGlyLeuHisLysGluSerAspThrHisAlaValGlnIleAlaLeuMetAlaLeuLysMetMetGluLeuSerAspGluValMetSerProHisGlyGluProIleLysMetArgIleGlyLeuHisSerGlySerValPheAlaGlyValValGlyValLysMetProArgTyrCysLeuPheGlyAsnAsnValThrLeuAlaAsnLysPheGluSerCysSerValProArgLysIleAsnValSerProThrThrTyrArgTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS012054" }, { "@id": "http://reg.genome.network/allele/PA916009471", "coordinates": [ { "allele": "T", "end": 1418, "referenceAllele": "C", "start": 1417 } ], "gene": "http://reg.genome.network/gene/GN004685", "geneNCBI_id": 2982, "geneSymbol": "GUCY1A1", "hgvs": [ "NM_001256449.1:c.1045C>T" ], "proteinEffect": { "hgvs": "NP_001243378.1:p.Arg349Ter", "hgvsWellDefined": "NP_001243378.1:p.Arg349_Asp690delinsValArgArgTrpAspAsnSerValLysLysSerSerArgValMetAspLeuLysGlyGlnMetIleTyrIleValGluSerSerAlaIleLeuPheLeuGlySerProCysValAspArgLeuGluAspPheThrGlyArgGlyLeuTyrLeuSerAspIleProIleHisAsnAlaLeuArgAspValValLeuIleGlyGluGlnAlaArgAlaGlnAspGlyLeuLysLysArgLeuGlyLysLeuLysAlaThrLeuGluGlnAlaHisGlnAlaLeuGluGluGluLysLysLysThrValAspLeuLeuCysSerIlePheProCysGluValAlaGlnGlnLeuTrpGlnGlyGlnValValGlnAlaLysLysPheSerAsnValThrMetLeuPheSerAspIleValGlyPheThrAlaIleCysSerGlnCysSerProLeuGlnValIleThrMetLeuAsnAlaLeuTyrThrArgPheAspGlnGlnCysGlyGluLeuAspValTyrLysValGluThrIleGlyAspAlaTyrCysValAlaGlyGlyLeuHisLysGluSerAspThrHisAlaValGlnIleAlaLeuMetAlaLeuLysMetMetGluLeuSerAspGluValMetSerProHisGlyGluProIleLysMetArgIleGlyLeuHisSerGlySerValPheAlaGlyValValGlyValLysMetProArgTyrCysLeuPheGlyAsnAsnValThrLeuAlaAsnLysPheGluSerCysSerValProArgLysIleAsnValSerProThrThrTyrArgLeuLeuLysAspCysProGlyPheValPheThrProArgSerArgGluGluLeuProProAsnPheProSerGluIleProGlyIleCysHisPheLeuAspAlaTyrGlnGlnGlyThrAsnSerLysProCysPheGlnLysLysAspValGluAspGlyAsnAlaAsnPheLeuGlyLysAlaSerGlyIleAspTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS019261" }, { "coordinates": [ { "allele": "T", "end": 1449, "referenceAllele": "C", "start": 1448 } ], "gene": "http://reg.genome.network/gene/GN004685", "geneNCBI_id": 2982, "geneSymbol": "GUCY1A1", "hgvs": [ "XM_005262955.1:c.1045C>T" ], "proteinEffect": { "hgvs": "XP_005263012.1:p.Arg349Ter", "hgvsWellDefined": "XP_005263012.1:p.Arg349_Asp690delinsValArgArgTrpAspAsnSerValLysLysSerSerArgValMetAspLeuLysGlyGlnMetIleTyrIleValGluSerSerAlaIleLeuPheLeuGlySerProCysValAspArgLeuGluAspPheThrGlyArgGlyLeuTyrLeuSerAspIleProIleHisAsnAlaLeuArgAspValValLeuIleGlyGluGlnAlaArgAlaGlnAspGlyLeuLysLysArgLeuGlyLysLeuLysAlaThrLeuGluGlnAlaHisGlnAlaLeuGluGluGluLysLysLysThrValAspLeuLeuCysSerIlePheProCysGluValAlaGlnGlnLeuTrpGlnGlyGlnValValGlnAlaLysLysPheSerAsnValThrMetLeuPheSerAspIleValGlyPheThrAlaIleCysSerGlnCysSerProLeuGlnValIleThrMetLeuAsnAlaLeuTyrThrArgPheAspGlnGlnCysGlyGluLeuAspValTyrLysValGluThrIleGlyAspAlaTyrCysValAlaGlyGlyLeuHisLysGluSerAspThrHisAlaValGlnIleAlaLeuMetAlaLeuLysMetMetGluLeuSerAspGluValMetSerProHisGlyGluProIleLysMetArgIleGlyLeuHisSerGlySerValPheAlaGlyValValGlyValLysMetProArgTyrCysLeuPheGlyAsnAsnValThrLeuAlaAsnLysPheGluSerCysSerValProArgLysIleAsnValSerProThrThrTyrArgLeuLeuLysAspCysProGlyPheValPheThrProArgSerArgGluGluLeuProProAsnPheProSerGluIleProGlyIleCysHisPheLeuAspAlaTyrGlnGlnGlyThrAsnSerLysProCysPheGlnLysLysAspValGluAspGlyAsnAlaAsnPheLeuGlyLysAlaSerGlyIleAspTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS063627" }, { "coordinates": [ { "allele": "T", "end": 1264, "referenceAllele": "C", "start": 1263 } ], "gene": "http://reg.genome.network/gene/GN004685", "geneNCBI_id": 2982, "geneSymbol": "GUCY1A1", "hgvs": [ "XM_005262956.1:c.340C>T" ], "proteinEffect": { "hgvs": "XP_005263013.1:p.Arg114Ter", "hgvsWellDefined": "XP_005263013.1:p.Arg114_Asp455delinsValArgArgTrpAspAsnSerValLysLysSerSerArgValMetAspLeuLysGlyGlnMetIleTyrIleValGluSerSerAlaIleLeuPheLeuGlySerProCysValAspArgLeuGluAspPheThrGlyArgGlyLeuTyrLeuSerAspIleProIleHisAsnAlaLeuArgAspValValLeuIleGlyGluGlnAlaArgAlaGlnAspGlyLeuLysLysArgLeuGlyLysLeuLysAlaThrLeuGluGlnAlaHisGlnAlaLeuGluGluGluLysLysLysThrValAspLeuLeuCysSerIlePheProCysGluValAlaGlnGlnLeuTrpGlnGlyGlnValValGlnAlaLysLysPheSerAsnValThrMetLeuPheSerAspIleValGlyPheThrAlaIleCysSerGlnCysSerProLeuGlnValIleThrMetLeuAsnAlaLeuTyrThrArgPheAspGlnGlnCysGlyGluLeuAspValTyrLysValGluThrIleGlyAspAlaTyrCysValAlaGlyGlyLeuHisLysGluSerAspThrHisAlaValGlnIleAlaLeuMetAlaLeuLysMetMetGluLeuSerAspGluValMetSerProHisGlyGluProIleLysMetArgIleGlyLeuHisSerGlySerValPheAlaGlyValValGlyValLysMetProArgTyrCysLeuPheGlyAsnAsnValThrLeuAlaAsnLysPheGluSerCysSerValProArgLysIleAsnValSerProThrThrTyrArgLeuLeuLysAspCysProGlyPheValPheThrProArgSerArgGluGluLeuProProAsnPheProSerGluIleProGlyIleCysHisPheLeuAspAlaTyrGlnGlnGlyThrAsnSerLysProCysPheGlnLysLysAspValGluAspGlyAsnAlaAsnPheLeuGlyLysAlaSerGlyIleAspTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS063628" }, { "coordinates": [ { "allele": "T", "end": 1369, "referenceAllele": "C", "start": 1368 } ], "gene": "http://reg.genome.network/gene/GN004685", "geneNCBI_id": 2982, "geneSymbol": "GUCY1A1", "hgvs": [ "XM_005262957.1:c.340C>T" ], "proteinEffect": { "hgvs": "XP_005263014.1:p.Arg114Ter", "hgvsWellDefined": "XP_005263014.1:p.Arg114_Asp455delinsValArgArgTrpAspAsnSerValLysLysSerSerArgValMetAspLeuLysGlyGlnMetIleTyrIleValGluSerSerAlaIleLeuPheLeuGlySerProCysValAspArgLeuGluAspPheThrGlyArgGlyLeuTyrLeuSerAspIleProIleHisAsnAlaLeuArgAspValValLeuIleGlyGluGlnAlaArgAlaGlnAspGlyLeuLysLysArgLeuGlyLysLeuLysAlaThrLeuGluGlnAlaHisGlnAlaLeuGluGluGluLysLysLysThrValAspLeuLeuCysSerIlePheProCysGluValAlaGlnGlnLeuTrpGlnGlyGlnValValGlnAlaLysLysPheSerAsnValThrMetLeuPheSerAspIleValGlyPheThrAlaIleCysSerGlnCysSerProLeuGlnValIleThrMetLeuAsnAlaLeuTyrThrArgPheAspGlnGlnCysGlyGluLeuAspValTyrLysValGluThrIleGlyAspAlaTyrCysValAlaGlyGlyLeuHisLysGluSerAspThrHisAlaValGlnIleAlaLeuMetAlaLeuLysMetMetGluLeuSerAspGluValMetSerProHisGlyGluProIleLysMetArgIleGlyLeuHisSerGlySerValPheAlaGlyValValGlyValLysMetProArgTyrCysLeuPheGlyAsnAsnValThrLeuAlaAsnLysPheGluSerCysSerValProArgLysIleAsnValSerProThrThrTyrArgLeuLeuLysAspCysProGlyPheValPheThrProArgSerArgGluGluLeuProProAsnPheProSerGluIleProGlyIleCysHisPheLeuAspAlaTyrGlnGlnGlyThrAsnSerLysProCysPheGlnLysLysAspValGluAspGlyAsnAlaAsnPheLeuGlyLysAlaSerGlyIleAspTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS063629" }, { "coordinates": [ { "allele": "T", "end": 1436, "referenceAllele": "C", "start": 1435 } ], "gene": "http://reg.genome.network/gene/GN004685", "geneNCBI_id": 2982, "geneSymbol": "GUCY1A1", "hgvs": [ "XM_006714196.1:c.1045C>T" ], "proteinEffect": { "hgvs": "XP_006714259.1:p.Arg349Ter", "hgvsWellDefined": "XP_006714259.1:p.Arg349_Asp690delinsValArgArgTrpAspAsnSerValLysLysSerSerArgValMetAspLeuLysGlyGlnMetIleTyrIleValGluSerSerAlaIleLeuPheLeuGlySerProCysValAspArgLeuGluAspPheThrGlyArgGlyLeuTyrLeuSerAspIleProIleHisAsnAlaLeuArgAspValValLeuIleGlyGluGlnAlaArgAlaGlnAspGlyLeuLysLysArgLeuGlyLysLeuLysAlaThrLeuGluGlnAlaHisGlnAlaLeuGluGluGluLysLysLysThrValAspLeuLeuCysSerIlePheProCysGluValAlaGlnGlnLeuTrpGlnGlyGlnValValGlnAlaLysLysPheSerAsnValThrMetLeuPheSerAspIleValGlyPheThrAlaIleCysSerGlnCysSerProLeuGlnValIleThrMetLeuAsnAlaLeuTyrThrArgPheAspGlnGlnCysGlyGluLeuAspValTyrLysValGluThrIleGlyAspAlaTyrCysValAlaGlyGlyLeuHisLysGluSerAspThrHisAlaValGlnIleAlaLeuMetAlaLeuLysMetMetGluLeuSerAspGluValMetSerProHisGlyGluProIleLysMetArgIleGlyLeuHisSerGlySerValPheAlaGlyValValGlyValLysMetProArgTyrCysLeuPheGlyAsnAsnValThrLeuAlaAsnLysPheGluSerCysSerValProArgLysIleAsnValSerProThrThrTyrArgLeuLeuLysAspCysProGlyPheValPheThrProArgSerArgGluGluLeuProProAsnPheProSerGluIleProGlyIleCysHisPheLeuAspAlaTyrGlnGlnGlyThrAsnSerLysProCysPheGlnLysLysAspValGluAspGlyAsnAlaAsnPheLeuGlyLysAlaSerGlyIleAspTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS070540" }, { "coordinates": [ { "allele": "T", "end": 1677, "referenceAllele": "C", "start": 1676 } ], "gene": "http://reg.genome.network/gene/GN004685", "geneNCBI_id": 2982, "geneSymbol": "GUCY1A1", "hgvs": [ "XM_006714197.1:c.1045C>T" ], "proteinEffect": { "hgvs": "XP_006714260.1:p.Arg349Ter", "hgvsWellDefined": "XP_006714260.1:p.Arg349_Asp690delinsValArgArgTrpAspAsnSerValLysLysSerSerArgValMetAspLeuLysGlyGlnMetIleTyrIleValGluSerSerAlaIleLeuPheLeuGlySerProCysValAspArgLeuGluAspPheThrGlyArgGlyLeuTyrLeuSerAspIleProIleHisAsnAlaLeuArgAspValValLeuIleGlyGluGlnAlaArgAlaGlnAspGlyLeuLysLysArgLeuGlyLysLeuLysAlaThrLeuGluGlnAlaHisGlnAlaLeuGluGluGluLysLysLysThrValAspLeuLeuCysSerIlePheProCysGluValAlaGlnGlnLeuTrpGlnGlyGlnValValGlnAlaLysLysPheSerAsnValThrMetLeuPheSerAspIleValGlyPheThrAlaIleCysSerGlnCysSerProLeuGlnValIleThrMetLeuAsnAlaLeuTyrThrArgPheAspGlnGlnCysGlyGluLeuAspValTyrLysValGluThrIleGlyAspAlaTyrCysValAlaGlyGlyLeuHisLysGluSerAspThrHisAlaValGlnIleAlaLeuMetAlaLeuLysMetMetGluLeuSerAspGluValMetSerProHisGlyGluProIleLysMetArgIleGlyLeuHisSerGlySerValPheAlaGlyValValGlyValLysMetProArgTyrCysLeuPheGlyAsnAsnValThrLeuAlaAsnLysPheGluSerCysSerValProArgLysIleAsnValSerProThrThrTyrArgLeuLeuLysAspCysProGlyPheValPheThrProArgSerArgGluGluLeuProProAsnPheProSerGluIleProGlyIleCysHisPheLeuAspAlaTyrGlnGlnGlyThrAsnSerLysProCysPheGlnLysLysAspValGluAspGlyAsnAlaAsnPheLeuGlyLysAlaSerGlyIleAspTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS070541" }, { "coordinates": [ { "allele": "T", "end": 1096, "referenceAllele": "C", "start": 1095 } ], "gene": "http://reg.genome.network/gene/GN004685", "geneNCBI_id": 2982, "geneSymbol": "GUCY1A1", "hgvs": [ "XM_006714198.1:c.340C>T" ], "proteinEffect": { "hgvs": "XP_006714261.1:p.Arg114Ter", "hgvsWellDefined": "XP_006714261.1:p.Arg114_Asp455delinsValArgArgTrpAspAsnSerValLysLysSerSerArgValMetAspLeuLysGlyGlnMetIleTyrIleValGluSerSerAlaIleLeuPheLeuGlySerProCysValAspArgLeuGluAspPheThrGlyArgGlyLeuTyrLeuSerAspIleProIleHisAsnAlaLeuArgAspValValLeuIleGlyGluGlnAlaArgAlaGlnAspGlyLeuLysLysArgLeuGlyLysLeuLysAlaThrLeuGluGlnAlaHisGlnAlaLeuGluGluGluLysLysLysThrValAspLeuLeuCysSerIlePheProCysGluValAlaGlnGlnLeuTrpGlnGlyGlnValValGlnAlaLysLysPheSerAsnValThrMetLeuPheSerAspIleValGlyPheThrAlaIleCysSerGlnCysSerProLeuGlnValIleThrMetLeuAsnAlaLeuTyrThrArgPheAspGlnGlnCysGlyGluLeuAspValTyrLysValGluThrIleGlyAspAlaTyrCysValAlaGlyGlyLeuHisLysGluSerAspThrHisAlaValGlnIleAlaLeuMetAlaLeuLysMetMetGluLeuSerAspGluValMetSerProHisGlyGluProIleLysMetArgIleGlyLeuHisSerGlySerValPheAlaGlyValValGlyValLysMetProArgTyrCysLeuPheGlyAsnAsnValThrLeuAlaAsnLysPheGluSerCysSerValProArgLysIleAsnValSerProThrThrTyrArgLeuLeuLysAspCysProGlyPheValPheThrProArgSerArgGluGluLeuProProAsnPheProSerGluIleProGlyIleCysHisPheLeuAspAlaTyrGlnGlnGlyThrAsnSerLysProCysPheGlnLysLysAspValGluAspGlyAsnAlaAsnPheLeuGlyLysAlaSerGlyIleAspTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS070542" }, { "coordinates": [ { "allele": "T", "end": 1760, "referenceAllele": "C", "start": 1759 } ], "gene": "http://reg.genome.network/gene/GN004685", "geneNCBI_id": 2982, "geneSymbol": "GUCY1A1", "hgvs": [ "XM_011531899.1:c.1045C>T" ], "proteinEffect": { "hgvs": "XP_011530201.1:p.Arg349Ter", "hgvsWellDefined": "XP_011530201.1:p.Arg349_Asp690delinsValArgArgTrpAspAsnSerValLysLysSerSerArgValMetAspLeuLysGlyGlnMetIleTyrIleValGluSerSerAlaIleLeuPheLeuGlySerProCysValAspArgLeuGluAspPheThrGlyArgGlyLeuTyrLeuSerAspIleProIleHisAsnAlaLeuArgAspValValLeuIleGlyGluGlnAlaArgAlaGlnAspGlyLeuLysLysArgLeuGlyLysLeuLysAlaThrLeuGluGlnAlaHisGlnAlaLeuGluGluGluLysLysLysThrValAspLeuLeuCysSerIlePheProCysGluValAlaGlnGlnLeuTrpGlnGlyGlnValValGlnAlaLysLysPheSerAsnValThrMetLeuPheSerAspIleValGlyPheThrAlaIleCysSerGlnCysSerProLeuGlnValIleThrMetLeuAsnAlaLeuTyrThrArgPheAspGlnGlnCysGlyGluLeuAspValTyrLysValGluThrIleGlyAspAlaTyrCysValAlaGlyGlyLeuHisLysGluSerAspThrHisAlaValGlnIleAlaLeuMetAlaLeuLysMetMetGluLeuSerAspGluValMetSerProHisGlyGluProIleLysMetArgIleGlyLeuHisSerGlySerValPheAlaGlyValValGlyValLysMetProArgTyrCysLeuPheGlyAsnAsnValThrLeuAlaAsnLysPheGluSerCysSerValProArgLysIleAsnValSerProThrThrTyrArgLeuLeuLysAspCysProGlyPheValPheThrProArgSerArgGluGluLeuProProAsnPheProSerGluIleProGlyIleCysHisPheLeuAspAlaTyrGlnGlnGlyThrAsnSerLysProCysPheGlnLysLysAspValGluAspGlyAsnAlaAsnPheLeuGlyLysAlaSerGlyIleAspTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS098930" }, { "coordinates": [ { "allele": "T", "end": 1175, "referenceAllele": "C", "start": 1174 } ], "gene": "http://reg.genome.network/gene/GN004685", "geneNCBI_id": 2982, "geneSymbol": "GUCY1A1", "hgvs": [ "XM_011531900.1:c.340C>T" ], "proteinEffect": { "hgvs": "XP_011530202.1:p.Arg114Ter", "hgvsWellDefined": "XP_011530202.1:p.Arg114_Asp455delinsValArgArgTrpAspAsnSerValLysLysSerSerArgValMetAspLeuLysGlyGlnMetIleTyrIleValGluSerSerAlaIleLeuPheLeuGlySerProCysValAspArgLeuGluAspPheThrGlyArgGlyLeuTyrLeuSerAspIleProIleHisAsnAlaLeuArgAspValValLeuIleGlyGluGlnAlaArgAlaGlnAspGlyLeuLysLysArgLeuGlyLysLeuLysAlaThrLeuGluGlnAlaHisGlnAlaLeuGluGluGluLysLysLysThrValAspLeuLeuCysSerIlePheProCysGluValAlaGlnGlnLeuTrpGlnGlyGlnValValGlnAlaLysLysPheSerAsnValThrMetLeuPheSerAspIleValGlyPheThrAlaIleCysSerGlnCysSerProLeuGlnValIleThrMetLeuAsnAlaLeuTyrThrArgPheAspGlnGlnCysGlyGluLeuAspValTyrLysValGluThrIleGlyAspAlaTyrCysValAlaGlyGlyLeuHisLysGluSerAspThrHisAlaValGlnIleAlaLeuMetAlaLeuLysMetMetGluLeuSerAspGluValMetSerProHisGlyGluProIleLysMetArgIleGlyLeuHisSerGlySerValPheAlaGlyValValGlyValLysMetProArgTyrCysLeuPheGlyAsnAsnValThrLeuAlaAsnLysPheGluSerCysSerValProArgLysIleAsnValSerProThrThrTyrArgLeuLeuLysAspCysProGlyPheValPheThrProArgSerArgGluGluLeuProProAsnPheProSerGluIleProGlyIleCysHisPheLeuAspAlaTyrGlnGlnGlyThrAsnSerLysProCysPheGlnLysLysAspValGluAspGlyAsnAlaAsnPheLeuGlyLysAlaSerGlyIleAspTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS098931" }, { "coordinates": [ { "allele": "T", "end": 1434, "referenceAllele": "C", "start": 1433 } ], "gene": "http://reg.genome.network/gene/GN004685", "geneNCBI_id": 2982, "geneSymbol": "GUCY1A1", "hgvs": [ "XM_005262955.3:c.1045C>T" ], "proteinEffect": { "hgvs": "XP_005263012.1:p.Arg349Ter", "hgvsWellDefined": "XP_005263012.1:p.Arg349_Asp690delinsValArgArgTrpAspAsnSerValLysLysSerSerArgValMetAspLeuLysGlyGlnMetIleTyrIleValGluSerSerAlaIleLeuPheLeuGlySerProCysValAspArgLeuGluAspPheThrGlyArgGlyLeuTyrLeuSerAspIleProIleHisAsnAlaLeuArgAspValValLeuIleGlyGluGlnAlaArgAlaGlnAspGlyLeuLysLysArgLeuGlyLysLeuLysAlaThrLeuGluGlnAlaHisGlnAlaLeuGluGluGluLysLysLysThrValAspLeuLeuCysSerIlePheProCysGluValAlaGlnGlnLeuTrpGlnGlyGlnValValGlnAlaLysLysPheSerAsnValThrMetLeuPheSerAspIleValGlyPheThrAlaIleCysSerGlnCysSerProLeuGlnValIleThrMetLeuAsnAlaLeuTyrThrArgPheAspGlnGlnCysGlyGluLeuAspValTyrLysValGluThrIleGlyAspAlaTyrCysValAlaGlyGlyLeuHisLysGluSerAspThrHisAlaValGlnIleAlaLeuMetAlaLeuLysMetMetGluLeuSerAspGluValMetSerProHisGlyGluProIleLysMetArgIleGlyLeuHisSerGlySerValPheAlaGlyValValGlyValLysMetProArgTyrCysLeuPheGlyAsnAsnValThrLeuAlaAsnLysPheGluSerCysSerValProArgLysIleAsnValSerProThrThrTyrArgLeuLeuLysAspCysProGlyPheValPheThrProArgSerArgGluGluLeuProProAsnPheProSerGluIleProGlyIleCysHisPheLeuAspAlaTyrGlnGlnGlyThrAsnSerLysProCysPheGlnLysLysAspValGluAspGlyAsnAlaAsnPheLeuGlyLysAlaSerGlyIleAspTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS535579" }, { "coordinates": [ { "allele": "T", "end": 1387, "referenceAllele": "C", "start": 1386 } ], "gene": "http://reg.genome.network/gene/GN004685", "geneNCBI_id": 2982, "geneSymbol": "GUCY1A1", "hgvs": [ "XM_005262956.3:c.340C>T" ], "proteinEffect": { "hgvs": "XP_005263013.1:p.Arg114Ter", "hgvsWellDefined": "XP_005263013.1:p.Arg114_Asp455delinsValArgArgTrpAspAsnSerValLysLysSerSerArgValMetAspLeuLysGlyGlnMetIleTyrIleValGluSerSerAlaIleLeuPheLeuGlySerProCysValAspArgLeuGluAspPheThrGlyArgGlyLeuTyrLeuSerAspIleProIleHisAsnAlaLeuArgAspValValLeuIleGlyGluGlnAlaArgAlaGlnAspGlyLeuLysLysArgLeuGlyLysLeuLysAlaThrLeuGluGlnAlaHisGlnAlaLeuGluGluGluLysLysLysThrValAspLeuLeuCysSerIlePheProCysGluValAlaGlnGlnLeuTrpGlnGlyGlnValValGlnAlaLysLysPheSerAsnValThrMetLeuPheSerAspIleValGlyPheThrAlaIleCysSerGlnCysSerProLeuGlnValIleThrMetLeuAsnAlaLeuTyrThrArgPheAspGlnGlnCysGlyGluLeuAspValTyrLysValGluThrIleGlyAspAlaTyrCysValAlaGlyGlyLeuHisLysGluSerAspThrHisAlaValGlnIleAlaLeuMetAlaLeuLysMetMetGluLeuSerAspGluValMetSerProHisGlyGluProIleLysMetArgIleGlyLeuHisSerGlySerValPheAlaGlyValValGlyValLysMetProArgTyrCysLeuPheGlyAsnAsnValThrLeuAlaAsnLysPheGluSerCysSerValProArgLysIleAsnValSerProThrThrTyrArgLeuLeuLysAspCysProGlyPheValPheThrProArgSerArgGluGluLeuProProAsnPheProSerGluIleProGlyIleCysHisPheLeuAspAlaTyrGlnGlnGlyThrAsnSerLysProCysPheGlnLysLysAspValGluAspGlyAsnAlaAsnPheLeuGlyLysAlaSerGlyIleAspTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS535580" }, { "coordinates": [ { "allele": "T", "end": 1642, "referenceAllele": "C", "start": 1641 } ], "gene": "http://reg.genome.network/gene/GN004685", "geneNCBI_id": 2982, "geneSymbol": "GUCY1A1", "hgvs": [ "XM_005262957.3:c.340C>T" ], "proteinEffect": { "hgvs": "XP_005263014.1:p.Arg114Ter", "hgvsWellDefined": "XP_005263014.1:p.Arg114_Asp455delinsValArgArgTrpAspAsnSerValLysLysSerSerArgValMetAspLeuLysGlyGlnMetIleTyrIleValGluSerSerAlaIleLeuPheLeuGlySerProCysValAspArgLeuGluAspPheThrGlyArgGlyLeuTyrLeuSerAspIleProIleHisAsnAlaLeuArgAspValValLeuIleGlyGluGlnAlaArgAlaGlnAspGlyLeuLysLysArgLeuGlyLysLeuLysAlaThrLeuGluGlnAlaHisGlnAlaLeuGluGluGluLysLysLysThrValAspLeuLeuCysSerIlePheProCysGluValAlaGlnGlnLeuTrpGlnGlyGlnValValGlnAlaLysLysPheSerAsnValThrMetLeuPheSerAspIleValGlyPheThrAlaIleCysSerGlnCysSerProLeuGlnValIleThrMetLeuAsnAlaLeuTyrThrArgPheAspGlnGlnCysGlyGluLeuAspValTyrLysValGluThrIleGlyAspAlaTyrCysValAlaGlyGlyLeuHisLysGluSerAspThrHisAlaValGlnIleAlaLeuMetAlaLeuLysMetMetGluLeuSerAspGluValMetSerProHisGlyGluProIleLysMetArgIleGlyLeuHisSerGlySerValPheAlaGlyValValGlyValLysMetProArgTyrCysLeuPheGlyAsnAsnValThrLeuAlaAsnLysPheGluSerCysSerValProArgLysIleAsnValSerProThrThrTyrArgLeuLeuLysAspCysProGlyPheValPheThrProArgSerArgGluGluLeuProProAsnPheProSerGluIleProGlyIleCysHisPheLeuAspAlaTyrGlnGlnGlyThrAsnSerLysProCysPheGlnLysLysAspValGluAspGlyAsnAlaAsnPheLeuGlyLysAlaSerGlyIleAspTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS535581" }, { "coordinates": [ { "allele": "T", "end": 1436, "referenceAllele": "C", "start": 1435 } ], "gene": "http://reg.genome.network/gene/GN004685", "geneNCBI_id": 2982, "geneSymbol": "GUCY1A1", "hgvs": [ "XM_006714196.2:c.1045C>T" ], "proteinEffect": { "hgvs": "XP_006714259.1:p.Arg349Ter", "hgvsWellDefined": "XP_006714259.1:p.Arg349_Asp690delinsValArgArgTrpAspAsnSerValLysLysSerSerArgValMetAspLeuLysGlyGlnMetIleTyrIleValGluSerSerAlaIleLeuPheLeuGlySerProCysValAspArgLeuGluAspPheThrGlyArgGlyLeuTyrLeuSerAspIleProIleHisAsnAlaLeuArgAspValValLeuIleGlyGluGlnAlaArgAlaGlnAspGlyLeuLysLysArgLeuGlyLysLeuLysAlaThrLeuGluGlnAlaHisGlnAlaLeuGluGluGluLysLysLysThrValAspLeuLeuCysSerIlePheProCysGluValAlaGlnGlnLeuTrpGlnGlyGlnValValGlnAlaLysLysPheSerAsnValThrMetLeuPheSerAspIleValGlyPheThrAlaIleCysSerGlnCysSerProLeuGlnValIleThrMetLeuAsnAlaLeuTyrThrArgPheAspGlnGlnCysGlyGluLeuAspValTyrLysValGluThrIleGlyAspAlaTyrCysValAlaGlyGlyLeuHisLysGluSerAspThrHisAlaValGlnIleAlaLeuMetAlaLeuLysMetMetGluLeuSerAspGluValMetSerProHisGlyGluProIleLysMetArgIleGlyLeuHisSerGlySerValPheAlaGlyValValGlyValLysMetProArgTyrCysLeuPheGlyAsnAsnValThrLeuAlaAsnLysPheGluSerCysSerValProArgLysIleAsnValSerProThrThrTyrArgLeuLeuLysAspCysProGlyPheValPheThrProArgSerArgGluGluLeuProProAsnPheProSerGluIleProGlyIleCysHisPheLeuAspAlaTyrGlnGlnGlyThrAsnSerLysProCysPheGlnLysLysAspValGluAspGlyAsnAlaAsnPheLeuGlyLysAlaSerGlyIleAspTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS538673" }, { "coordinates": [ { "allele": "T", "end": 1211, "referenceAllele": "C", "start": 1210 } ], "gene": "http://reg.genome.network/gene/GN004685", "geneNCBI_id": 2982, "geneSymbol": "GUCY1A1", "hgvs": [ "XM_006714197.2:c.1045C>T" ], "proteinEffect": { "hgvs": "XP_006714260.1:p.Arg349Ter", "hgvsWellDefined": "XP_006714260.1:p.Arg349_Asp690delinsValArgArgTrpAspAsnSerValLysLysSerSerArgValMetAspLeuLysGlyGlnMetIleTyrIleValGluSerSerAlaIleLeuPheLeuGlySerProCysValAspArgLeuGluAspPheThrGlyArgGlyLeuTyrLeuSerAspIleProIleHisAsnAlaLeuArgAspValValLeuIleGlyGluGlnAlaArgAlaGlnAspGlyLeuLysLysArgLeuGlyLysLeuLysAlaThrLeuGluGlnAlaHisGlnAlaLeuGluGluGluLysLysLysThrValAspLeuLeuCysSerIlePheProCysGluValAlaGlnGlnLeuTrpGlnGlyGlnValValGlnAlaLysLysPheSerAsnValThrMetLeuPheSerAspIleValGlyPheThrAlaIleCysSerGlnCysSerProLeuGlnValIleThrMetLeuAsnAlaLeuTyrThrArgPheAspGlnGlnCysGlyGluLeuAspValTyrLysValGluThrIleGlyAspAlaTyrCysValAlaGlyGlyLeuHisLysGluSerAspThrHisAlaValGlnIleAlaLeuMetAlaLeuLysMetMetGluLeuSerAspGluValMetSerProHisGlyGluProIleLysMetArgIleGlyLeuHisSerGlySerValPheAlaGlyValValGlyValLysMetProArgTyrCysLeuPheGlyAsnAsnValThrLeuAlaAsnLysPheGluSerCysSerValProArgLysIleAsnValSerProThrThrTyrArgLeuLeuLysAspCysProGlyPheValPheThrProArgSerArgGluGluLeuProProAsnPheProSerGluIleProGlyIleCysHisPheLeuAspAlaTyrGlnGlnGlyThrAsnSerLysProCysPheGlnLysLysAspValGluAspGlyAsnAlaAsnPheLeuGlyLysAlaSerGlyIleAspTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS538674" }, { "coordinates": [ { "allele": "T", "end": 1175, "referenceAllele": "C", "start": 1174 } ], "gene": "http://reg.genome.network/gene/GN004685", "geneNCBI_id": 2982, "geneSymbol": "GUCY1A1", "hgvs": [ "XM_011531900.2:c.340C>T" ], "proteinEffect": { "hgvs": "XP_011530202.1:p.Arg114Ter", "hgvsWellDefined": "XP_011530202.1:p.Arg114_Asp455delinsValArgArgTrpAspAsnSerValLysLysSerSerArgValMetAspLeuLysGlyGlnMetIleTyrIleValGluSerSerAlaIleLeuPheLeuGlySerProCysValAspArgLeuGluAspPheThrGlyArgGlyLeuTyrLeuSerAspIleProIleHisAsnAlaLeuArgAspValValLeuIleGlyGluGlnAlaArgAlaGlnAspGlyLeuLysLysArgLeuGlyLysLeuLysAlaThrLeuGluGlnAlaHisGlnAlaLeuGluGluGluLysLysLysThrValAspLeuLeuCysSerIlePheProCysGluValAlaGlnGlnLeuTrpGlnGlyGlnValValGlnAlaLysLysPheSerAsnValThrMetLeuPheSerAspIleValGlyPheThrAlaIleCysSerGlnCysSerProLeuGlnValIleThrMetLeuAsnAlaLeuTyrThrArgPheAspGlnGlnCysGlyGluLeuAspValTyrLysValGluThrIleGlyAspAlaTyrCysValAlaGlyGlyLeuHisLysGluSerAspThrHisAlaValGlnIleAlaLeuMetAlaLeuLysMetMetGluLeuSerAspGluValMetSerProHisGlyGluProIleLysMetArgIleGlyLeuHisSerGlySerValPheAlaGlyValValGlyValLysMetProArgTyrCysLeuPheGlyAsnAsnValThrLeuAlaAsnLysPheGluSerCysSerValProArgLysIleAsnValSerProThrThrTyrArgLeuLeuLysAspCysProGlyPheValPheThrProArgSerArgGluGluLeuProProAsnPheProSerGluIleProGlyIleCysHisPheLeuAspAlaTyrGlnGlnGlyThrAsnSerLysProCysPheGlnLysLysAspValGluAspGlyAsnAlaAsnPheLeuGlyLysAlaSerGlyIleAspTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS550608" }, { "@id": "http://reg.genome.network/allele/PA151373", "coordinates": [ { "allele": "T", "end": 1443, "referenceAllele": "C", "start": 1442 } ], "gene": "http://reg.genome.network/gene/GN004685", "geneNCBI_id": 2982, "geneSymbol": "GUCY1A1", "hgvs": [ "NM_000856.6:c.1045C>T" ], "proteinEffect": { "hgvs": "NP_000847.2:p.Arg349Ter", "hgvsWellDefined": "NP_000847.2:p.Arg349_Asp690delinsValArgArgTrpAspAsnSerValLysLysSerSerArgValMetAspLeuLysGlyGlnMetIleTyrIleValGluSerSerAlaIleLeuPheLeuGlySerProCysValAspArgLeuGluAspPheThrGlyArgGlyLeuTyrLeuSerAspIleProIleHisAsnAlaLeuArgAspValValLeuIleGlyGluGlnAlaArgAlaGlnAspGlyLeuLysLysArgLeuGlyLysLeuLysAlaThrLeuGluGlnAlaHisGlnAlaLeuGluGluGluLysLysLysThrValAspLeuLeuCysSerIlePheProCysGluValAlaGlnGlnLeuTrpGlnGlyGlnValValGlnAlaLysLysPheSerAsnValThrMetLeuPheSerAspIleValGlyPheThrAlaIleCysSerGlnCysSerProLeuGlnValIleThrMetLeuAsnAlaLeuTyrThrArgPheAspGlnGlnCysGlyGluLeuAspValTyrLysValGluThrIleGlyAspAlaTyrCysValAlaGlyGlyLeuHisLysGluSerAspThrHisAlaValGlnIleAlaLeuMetAlaLeuLysMetMetGluLeuSerAspGluValMetSerProHisGlyGluProIleLysMetArgIleGlyLeuHisSerGlySerValPheAlaGlyValValGlyValLysMetProArgTyrCysLeuPheGlyAsnAsnValThrLeuAlaAsnLysPheGluSerCysSerValProArgLysIleAsnValSerProThrThrTyrArgLeuLeuLysAspCysProGlyPheValPheThrProArgSerArgGluGluLeuProProAsnPheProSerGluIleProGlyIleCysHisPheLeuAspAlaTyrGlnGlnGlyThrAsnSerLysProCysPheGlnLysLysAspValGluAspGlyAsnAlaAsnPheLeuGlyLysAlaSerGlyIleAspTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS674969" }, { "@id": "http://reg.genome.network/allele/PA2825697148", "coordinates": [ { "allele": "T", "end": 1349, "referenceAllele": "C", "start": 1348 } ], "gene": "http://reg.genome.network/gene/GN004685", "geneNCBI_id": 2982, "geneSymbol": "GUCY1A1", "hgvs": [ "NM_001130682.3:c.1045C>T" ], "proteinEffect": { "hgvs": "NP_001124154.1:p.Arg349Ter", "hgvsWellDefined": "NP_001124154.1:p.Arg349_Asp690delinsValArgArgTrpAspAsnSerValLysLysSerSerArgValMetAspLeuLysGlyGlnMetIleTyrIleValGluSerSerAlaIleLeuPheLeuGlySerProCysValAspArgLeuGluAspPheThrGlyArgGlyLeuTyrLeuSerAspIleProIleHisAsnAlaLeuArgAspValValLeuIleGlyGluGlnAlaArgAlaGlnAspGlyLeuLysLysArgLeuGlyLysLeuLysAlaThrLeuGluGlnAlaHisGlnAlaLeuGluGluGluLysLysLysThrValAspLeuLeuCysSerIlePheProCysGluValAlaGlnGlnLeuTrpGlnGlyGlnValValGlnAlaLysLysPheSerAsnValThrMetLeuPheSerAspIleValGlyPheThrAlaIleCysSerGlnCysSerProLeuGlnValIleThrMetLeuAsnAlaLeuTyrThrArgPheAspGlnGlnCysGlyGluLeuAspValTyrLysValGluThrIleGlyAspAlaTyrCysValAlaGlyGlyLeuHisLysGluSerAspThrHisAlaValGlnIleAlaLeuMetAlaLeuLysMetMetGluLeuSerAspGluValMetSerProHisGlyGluProIleLysMetArgIleGlyLeuHisSerGlySerValPheAlaGlyValValGlyValLysMetProArgTyrCysLeuPheGlyAsnAsnValThrLeuAlaAsnLysPheGluSerCysSerValProArgLysIleAsnValSerProThrThrTyrArgLeuLeuLysAspCysProGlyPheValPheThrProArgSerArgGluGluLeuProProAsnPheProSerGluIleProGlyIleCysHisPheLeuAspAlaTyrGlnGlnGlyThrAsnSerLysProCysPheGlnLysLysAspValGluAspGlyAsnAlaAsnPheLeuGlyLysAlaSerGlyIleAspTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS677125", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000506455.6:c.1045C>T" }, "RefSeq": { "hgvs": "NM_001130682.3:c.1045C>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000424361.1:p.Arg349Ter" }, "RefSeq": { "hgvs": "NP_001124154.1:p.Arg349Ter" } } } }, { "@id": "http://reg.genome.network/allele/PA2825697255", "coordinates": [ { "allele": "T", "end": 1604, "referenceAllele": "C", "start": 1603 } ], "gene": "http://reg.genome.network/gene/GN004685", "geneNCBI_id": 2982, "geneSymbol": "GUCY1A1", "hgvs": [ "NM_001130683.4:c.1045C>T" ], "proteinEffect": { "hgvs": "NP_001124155.1:p.Arg349Ter", "hgvsWellDefined": "NP_001124155.1:p.Arg349_Asp690delinsValArgArgTrpAspAsnSerValLysLysSerSerArgValMetAspLeuLysGlyGlnMetIleTyrIleValGluSerSerAlaIleLeuPheLeuGlySerProCysValAspArgLeuGluAspPheThrGlyArgGlyLeuTyrLeuSerAspIleProIleHisAsnAlaLeuArgAspValValLeuIleGlyGluGlnAlaArgAlaGlnAspGlyLeuLysLysArgLeuGlyLysLeuLysAlaThrLeuGluGlnAlaHisGlnAlaLeuGluGluGluLysLysLysThrValAspLeuLeuCysSerIlePheProCysGluValAlaGlnGlnLeuTrpGlnGlyGlnValValGlnAlaLysLysPheSerAsnValThrMetLeuPheSerAspIleValGlyPheThrAlaIleCysSerGlnCysSerProLeuGlnValIleThrMetLeuAsnAlaLeuTyrThrArgPheAspGlnGlnCysGlyGluLeuAspValTyrLysValGluThrIleGlyAspAlaTyrCysValAlaGlyGlyLeuHisLysGluSerAspThrHisAlaValGlnIleAlaLeuMetAlaLeuLysMetMetGluLeuSerAspGluValMetSerProHisGlyGluProIleLysMetArgIleGlyLeuHisSerGlySerValPheAlaGlyValValGlyValLysMetProArgTyrCysLeuPheGlyAsnAsnValThrLeuAlaAsnLysPheGluSerCysSerValProArgLysIleAsnValSerProThrThrTyrArgLeuLeuLysAspCysProGlyPheValPheThrProArgSerArgGluGluLeuProProAsnPheProSerGluIleProGlyIleCysHisPheLeuAspAlaTyrGlnGlnGlyThrAsnSerLysProCysPheGlnLysLysAspValGluAspGlyAsnAlaAsnPheLeuGlyLysAlaSerGlyIleAspTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS677126" }, { "@id": "http://reg.genome.network/allele/PA2825697370", "coordinates": [ { "allele": "T", "end": 1428, "referenceAllele": "C", "start": 1427 } ], "gene": "http://reg.genome.network/gene/GN004685", "geneNCBI_id": 2982, "geneSymbol": "GUCY1A1", "hgvs": [ "NM_001130684.3:c.1045C>T" ], "proteinEffect": { "hgvs": "NP_001124156.1:p.Arg349Ter", "hgvsWellDefined": "NP_001124156.1:p.Arg349_Asp690delinsValArgArgTrpAspAsnSerValLysLysSerSerArgValMetAspLeuLysGlyGlnMetIleTyrIleValGluSerSerAlaIleLeuPheLeuGlySerProCysValAspArgLeuGluAspPheThrGlyArgGlyLeuTyrLeuSerAspIleProIleHisAsnAlaLeuArgAspValValLeuIleGlyGluGlnAlaArgAlaGlnAspGlyLeuLysLysArgLeuGlyLysLeuLysAlaThrLeuGluGlnAlaHisGlnAlaLeuGluGluGluLysLysLysThrValAspLeuLeuCysSerIlePheProCysGluValAlaGlnGlnLeuTrpGlnGlyGlnValValGlnAlaLysLysPheSerAsnValThrMetLeuPheSerAspIleValGlyPheThrAlaIleCysSerGlnCysSerProLeuGlnValIleThrMetLeuAsnAlaLeuTyrThrArgPheAspGlnGlnCysGlyGluLeuAspValTyrLysValGluThrIleGlyAspAlaTyrCysValAlaGlyGlyLeuHisLysGluSerAspThrHisAlaValGlnIleAlaLeuMetAlaLeuLysMetMetGluLeuSerAspGluValMetSerProHisGlyGluProIleLysMetArgIleGlyLeuHisSerGlySerValPheAlaGlyValValGlyValLysMetProArgTyrCysLeuPheGlyAsnAsnValThrLeuAlaAsnLysPheGluSerCysSerValProArgLysIleAsnValSerProThrThrTyrArgLeuLeuLysAspCysProGlyPheValPheThrProArgSerArgGluGluLeuProProAsnPheProSerGluIleProGlyIleCysHisPheLeuAspAlaTyrGlnGlnGlyThrAsnSerLysProCysPheGlnLysLysAspValGluAspGlyAsnAlaAsnPheLeuGlyLysAlaSerGlyIleAspTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS677127" }, { "@id": "http://reg.genome.network/allele/PA2825697437", "coordinates": [ { "allele": "T", "end": 1425, "referenceAllele": "C", "start": 1424 } ], "gene": "http://reg.genome.network/gene/GN004685", "geneNCBI_id": 2982, "geneSymbol": "GUCY1A1", "hgvs": [ "NM_001130685.3:c.340C>T" ], "proteinEffect": { "hgvs": "NP_001124157.1:p.Arg114Ter", "hgvsWellDefined": "NP_001124157.1:p.Arg114_Asp455delinsValArgArgTrpAspAsnSerValLysLysSerSerArgValMetAspLeuLysGlyGlnMetIleTyrIleValGluSerSerAlaIleLeuPheLeuGlySerProCysValAspArgLeuGluAspPheThrGlyArgGlyLeuTyrLeuSerAspIleProIleHisAsnAlaLeuArgAspValValLeuIleGlyGluGlnAlaArgAlaGlnAspGlyLeuLysLysArgLeuGlyLysLeuLysAlaThrLeuGluGlnAlaHisGlnAlaLeuGluGluGluLysLysLysThrValAspLeuLeuCysSerIlePheProCysGluValAlaGlnGlnLeuTrpGlnGlyGlnValValGlnAlaLysLysPheSerAsnValThrMetLeuPheSerAspIleValGlyPheThrAlaIleCysSerGlnCysSerProLeuGlnValIleThrMetLeuAsnAlaLeuTyrThrArgPheAspGlnGlnCysGlyGluLeuAspValTyrLysValGluThrIleGlyAspAlaTyrCysValAlaGlyGlyLeuHisLysGluSerAspThrHisAlaValGlnIleAlaLeuMetAlaLeuLysMetMetGluLeuSerAspGluValMetSerProHisGlyGluProIleLysMetArgIleGlyLeuHisSerGlySerValPheAlaGlyValValGlyValLysMetProArgTyrCysLeuPheGlyAsnAsnValThrLeuAlaAsnLysPheGluSerCysSerValProArgLysIleAsnValSerProThrThrTyrArgLeuLeuLysAspCysProGlyPheValPheThrProArgSerArgGluGluLeuProProAsnPheProSerGluIleProGlyIleCysHisPheLeuAspAlaTyrGlnGlnGlyThrAsnSerLysProCysPheGlnLysLysAspValGluAspGlyAsnAlaAsnPheLeuGlyLysAlaSerGlyIleAspTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS677128" }, { "@id": "http://reg.genome.network/allele/PA916009471", "coordinates": [ { "allele": "T", "end": 1533, "referenceAllele": "C", "start": 1532 } ], "gene": "http://reg.genome.network/gene/GN004685", "geneNCBI_id": 2982, "geneSymbol": "GUCY1A1", "hgvs": [ "NM_001256449.2:c.1045C>T" ], "proteinEffect": { "hgvs": "NP_001243378.1:p.Arg349Ter", "hgvsWellDefined": "NP_001243378.1:p.Arg349_Asp690delinsValArgArgTrpAspAsnSerValLysLysSerSerArgValMetAspLeuLysGlyGlnMetIleTyrIleValGluSerSerAlaIleLeuPheLeuGlySerProCysValAspArgLeuGluAspPheThrGlyArgGlyLeuTyrLeuSerAspIleProIleHisAsnAlaLeuArgAspValValLeuIleGlyGluGlnAlaArgAlaGlnAspGlyLeuLysLysArgLeuGlyLysLeuLysAlaThrLeuGluGlnAlaHisGlnAlaLeuGluGluGluLysLysLysThrValAspLeuLeuCysSerIlePheProCysGluValAlaGlnGlnLeuTrpGlnGlyGlnValValGlnAlaLysLysPheSerAsnValThrMetLeuPheSerAspIleValGlyPheThrAlaIleCysSerGlnCysSerProLeuGlnValIleThrMetLeuAsnAlaLeuTyrThrArgPheAspGlnGlnCysGlyGluLeuAspValTyrLysValGluThrIleGlyAspAlaTyrCysValAlaGlyGlyLeuHisLysGluSerAspThrHisAlaValGlnIleAlaLeuMetAlaLeuLysMetMetGluLeuSerAspGluValMetSerProHisGlyGluProIleLysMetArgIleGlyLeuHisSerGlySerValPheAlaGlyValValGlyValLysMetProArgTyrCysLeuPheGlyAsnAsnValThrLeuAlaAsnLysPheGluSerCysSerValProArgLysIleAsnValSerProThrThrTyrArgLeuLeuLysAspCysProGlyPheValPheThrProArgSerArgGluGluLeuProProAsnPheProSerGluIleProGlyIleCysHisPheLeuAspAlaTyrGlnGlnGlyThrAsnSerLysProCysPheGlnLysLysAspValGluAspGlyAsnAlaAsnPheLeuGlyLysAlaSerGlyIleAspTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS680580" }, { "@id": "http://reg.genome.network/allele/PA2825697536", "coordinates": [ { "allele": "T", "end": 1349, "referenceAllele": "C", "start": 1348 } ], "gene": "http://reg.genome.network/gene/GN004685", "geneNCBI_id": 2982, "geneSymbol": "GUCY1A1", "hgvs": [ "NM_001130687.3:c.1045C>T" ], "proteinEffect": { "hgvs": "NP_001124159.1:p.Arg349Ter", "hgvsWellDefined": "NP_001124159.1:p.Arg349_Arg624delinsValArgArgTrpAspAsnSerValLysLysSerSerArgValMetAspLeuLysGlyGlnMetIleTyrIleValGluSerSerAlaIleLeuPheLeuGlySerProCysValAspArgLeuGluAspPheThrGlyArgGlyLeuTyrLeuSerAspIleProIleHisAsnAlaLeuArgAspValValLeuIleGlyGluGlnAlaArgAlaGlnAspGlyLeuLysLysArgLeuGlyLysLeuLysAlaThrLeuGluGlnAlaHisGlnAlaLeuGluGluGluLysLysLysThrValAspLeuLeuCysSerIlePheProCysGluValAlaGlnGlnLeuTrpGlnGlyGlnValValGlnAlaLysLysPheSerAsnValThrMetLeuPheSerAspIleValGlyPheThrAlaIleCysSerGlnCysSerProLeuGlnValIleThrMetLeuAsnAlaLeuTyrThrArgPheAspGlnGlnCysGlyGluLeuAspValTyrLysValGluThrIleGlyAspAlaTyrCysValAlaGlyGlyLeuHisLysGluSerAspThrHisAlaValGlnIleAlaLeuMetAlaLeuLysMetMetGluLeuSerAspGluValMetSerProHisGlyGluProIleLysMetArgIleGlyLeuHisSerGlySerValPheAlaGlyValValGlyValLysMetProArgTyrCysLeuPheGlyAsnAsnValThrLeuAlaAsnLysPheGluSerCysSerValProArgLysIleAsnValSerProThrThrTyrArgTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS712340" }, { "@id": "http://reg.genome.network/allele/PA2828879056", "coordinates": [ { "allele": "T", "end": 1299, "referenceAllele": "C", "start": 1298 } ], "gene": "http://reg.genome.network/gene/GN004685", "geneNCBI_id": 2982, "geneSymbol": "GUCY1A1", "hgvs": [ "NM_001379666.1:c.1045C>T" ], "proteinEffect": { "hgvs": "NP_001366595.1:p.Arg349Ter", "hgvsWellDefined": "NP_001366595.1:p.Arg349_Asp690delinsValArgArgTrpAspAsnSerValLysLysSerSerArgValMetAspLeuLysGlyGlnMetIleTyrIleValGluSerSerAlaIleLeuPheLeuGlySerProCysValAspArgLeuGluAspPheThrGlyArgGlyLeuTyrLeuSerAspIleProIleHisAsnAlaLeuArgAspValValLeuIleGlyGluGlnAlaArgAlaGlnAspGlyLeuLysLysArgLeuGlyLysLeuLysAlaThrLeuGluGlnAlaHisGlnAlaLeuGluGluGluLysLysLysThrValAspLeuLeuCysSerIlePheProCysGluValAlaGlnGlnLeuTrpGlnGlyGlnValValGlnAlaLysLysPheSerAsnValThrMetLeuPheSerAspIleValGlyPheThrAlaIleCysSerGlnCysSerProLeuGlnValIleThrMetLeuAsnAlaLeuTyrThrArgPheAspGlnGlnCysGlyGluLeuAspValTyrLysValGluThrIleGlyAspAlaTyrCysValAlaGlyGlyLeuHisLysGluSerAspThrHisAlaValGlnIleAlaLeuMetAlaLeuLysMetMetGluLeuSerAspGluValMetSerProHisGlyGluProIleLysMetArgIleGlyLeuHisSerGlySerValPheAlaGlyValValGlyValLysMetProArgTyrCysLeuPheGlyAsnAsnValThrLeuAlaAsnLysPheGluSerCysSerValProArgLysIleAsnValSerProThrThrTyrArgLeuLeuLysAspCysProGlyPheValPheThrProArgSerArgGluGluLeuProProAsnPheProSerGluIleProGlyIleCysHisPheLeuAspAlaTyrGlnGlnGlyThrAsnSerLysProCysPheGlnLysLysAspValGluAspGlyAsnAlaAsnPheLeuGlyLysAlaSerGlyIleAspTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS722068" }, { "@id": "http://reg.genome.network/allele/PA2828879129", "coordinates": [ { "allele": "T", "end": 1554, "referenceAllele": "C", "start": 1553 } ], "gene": "http://reg.genome.network/gene/GN004685", "geneNCBI_id": 2982, "geneSymbol": "GUCY1A1", "hgvs": [ "NM_001379667.1:c.1045C>T" ], "proteinEffect": { "hgvs": "NP_001366596.1:p.Arg349Ter", "hgvsWellDefined": "NP_001366596.1:p.Arg349_Asp690delinsValArgArgTrpAspAsnSerValLysLysSerSerArgValMetAspLeuLysGlyGlnMetIleTyrIleValGluSerSerAlaIleLeuPheLeuGlySerProCysValAspArgLeuGluAspPheThrGlyArgGlyLeuTyrLeuSerAspIleProIleHisAsnAlaLeuArgAspValValLeuIleGlyGluGlnAlaArgAlaGlnAspGlyLeuLysLysArgLeuGlyLysLeuLysAlaThrLeuGluGlnAlaHisGlnAlaLeuGluGluGluLysLysLysThrValAspLeuLeuCysSerIlePheProCysGluValAlaGlnGlnLeuTrpGlnGlyGlnValValGlnAlaLysLysPheSerAsnValThrMetLeuPheSerAspIleValGlyPheThrAlaIleCysSerGlnCysSerProLeuGlnValIleThrMetLeuAsnAlaLeuTyrThrArgPheAspGlnGlnCysGlyGluLeuAspValTyrLysValGluThrIleGlyAspAlaTyrCysValAlaGlyGlyLeuHisLysGluSerAspThrHisAlaValGlnIleAlaLeuMetAlaLeuLysMetMetGluLeuSerAspGluValMetSerProHisGlyGluProIleLysMetArgIleGlyLeuHisSerGlySerValPheAlaGlyValValGlyValLysMetProArgTyrCysLeuPheGlyAsnAsnValThrLeuAlaAsnLysPheGluSerCysSerValProArgLysIleAsnValSerProThrThrTyrArgLeuLeuLysAspCysProGlyPheValPheThrProArgSerArgGluGluLeuProProAsnPheProSerGluIleProGlyIleCysHisPheLeuAspAlaTyrGlnGlnGlyThrAsnSerLysProCysPheGlnLysLysAspValGluAspGlyAsnAlaAsnPheLeuGlyLysAlaSerGlyIleAspTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS722069" }, { "@id": "http://reg.genome.network/allele/PA2828879202", "coordinates": [ { "allele": "T", "end": 1583, "referenceAllele": "C", "start": 1582 } ], "gene": "http://reg.genome.network/gene/GN004685", "geneNCBI_id": 2982, "geneSymbol": "GUCY1A1", "hgvs": [ "NM_001379668.1:c.1045C>T" ], "proteinEffect": { "hgvs": "NP_001366597.1:p.Arg349Ter", "hgvsWellDefined": "NP_001366597.1:p.Arg349_Asp690delinsValArgArgTrpAspAsnSerValLysLysSerSerArgValMetAspLeuLysGlyGlnMetIleTyrIleValGluSerSerAlaIleLeuPheLeuGlySerProCysValAspArgLeuGluAspPheThrGlyArgGlyLeuTyrLeuSerAspIleProIleHisAsnAlaLeuArgAspValValLeuIleGlyGluGlnAlaArgAlaGlnAspGlyLeuLysLysArgLeuGlyLysLeuLysAlaThrLeuGluGlnAlaHisGlnAlaLeuGluGluGluLysLysLysThrValAspLeuLeuCysSerIlePheProCysGluValAlaGlnGlnLeuTrpGlnGlyGlnValValGlnAlaLysLysPheSerAsnValThrMetLeuPheSerAspIleValGlyPheThrAlaIleCysSerGlnCysSerProLeuGlnValIleThrMetLeuAsnAlaLeuTyrThrArgPheAspGlnGlnCysGlyGluLeuAspValTyrLysValGluThrIleGlyAspAlaTyrCysValAlaGlyGlyLeuHisLysGluSerAspThrHisAlaValGlnIleAlaLeuMetAlaLeuLysMetMetGluLeuSerAspGluValMetSerProHisGlyGluProIleLysMetArgIleGlyLeuHisSerGlySerValPheAlaGlyValValGlyValLysMetProArgTyrCysLeuPheGlyAsnAsnValThrLeuAlaAsnLysPheGluSerCysSerValProArgLysIleAsnValSerProThrThrTyrArgLeuLeuLysAspCysProGlyPheValPheThrProArgSerArgGluGluLeuProProAsnPheProSerGluIleProGlyIleCysHisPheLeuAspAlaTyrGlnGlnGlyThrAsnSerLysProCysPheGlnLysLysAspValGluAspGlyAsnAlaAsnPheLeuGlyLysAlaSerGlyIleAspTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS722070" }, { "@id": "http://reg.genome.network/allele/PA2828879275", "coordinates": [ { "allele": "T", "end": 2104, "referenceAllele": "C", "start": 2103 } ], "gene": "http://reg.genome.network/gene/GN004685", "geneNCBI_id": 2982, "geneSymbol": "GUCY1A1", "hgvs": [ "NM_001379669.1:c.1045C>T" ], "proteinEffect": { "hgvs": "NP_001366598.1:p.Arg349Ter", "hgvsWellDefined": "NP_001366598.1:p.Arg349_Asp690delinsValArgArgTrpAspAsnSerValLysLysSerSerArgValMetAspLeuLysGlyGlnMetIleTyrIleValGluSerSerAlaIleLeuPheLeuGlySerProCysValAspArgLeuGluAspPheThrGlyArgGlyLeuTyrLeuSerAspIleProIleHisAsnAlaLeuArgAspValValLeuIleGlyGluGlnAlaArgAlaGlnAspGlyLeuLysLysArgLeuGlyLysLeuLysAlaThrLeuGluGlnAlaHisGlnAlaLeuGluGluGluLysLysLysThrValAspLeuLeuCysSerIlePheProCysGluValAlaGlnGlnLeuTrpGlnGlyGlnValValGlnAlaLysLysPheSerAsnValThrMetLeuPheSerAspIleValGlyPheThrAlaIleCysSerGlnCysSerProLeuGlnValIleThrMetLeuAsnAlaLeuTyrThrArgPheAspGlnGlnCysGlyGluLeuAspValTyrLysValGluThrIleGlyAspAlaTyrCysValAlaGlyGlyLeuHisLysGluSerAspThrHisAlaValGlnIleAlaLeuMetAlaLeuLysMetMetGluLeuSerAspGluValMetSerProHisGlyGluProIleLysMetArgIleGlyLeuHisSerGlySerValPheAlaGlyValValGlyValLysMetProArgTyrCysLeuPheGlyAsnAsnValThrLeuAlaAsnLysPheGluSerCysSerValProArgLysIleAsnValSerProThrThrTyrArgLeuLeuLysAspCysProGlyPheValPheThrProArgSerArgGluGluLeuProProAsnPheProSerGluIleProGlyIleCysHisPheLeuAspAlaTyrGlnGlnGlyThrAsnSerLysProCysPheGlnLysLysAspValGluAspGlyAsnAlaAsnPheLeuGlyLysAlaSerGlyIleAspTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS722071" }, { "@id": "http://reg.genome.network/allele/PA2828879348", "coordinates": [ { "allele": "T", "end": 1324, "referenceAllele": "C", "start": 1323 } ], "gene": "http://reg.genome.network/gene/GN004685", "geneNCBI_id": 2982, "geneSymbol": "GUCY1A1", "hgvs": [ "NM_001379670.1:c.1045C>T" ], "proteinEffect": { "hgvs": "NP_001366599.1:p.Arg349Ter", "hgvsWellDefined": "NP_001366599.1:p.Arg349_Asp690delinsValArgArgTrpAspAsnSerValLysLysSerSerArgValMetAspLeuLysGlyGlnMetIleTyrIleValGluSerSerAlaIleLeuPheLeuGlySerProCysValAspArgLeuGluAspPheThrGlyArgGlyLeuTyrLeuSerAspIleProIleHisAsnAlaLeuArgAspValValLeuIleGlyGluGlnAlaArgAlaGlnAspGlyLeuLysLysArgLeuGlyLysLeuLysAlaThrLeuGluGlnAlaHisGlnAlaLeuGluGluGluLysLysLysThrValAspLeuLeuCysSerIlePheProCysGluValAlaGlnGlnLeuTrpGlnGlyGlnValValGlnAlaLysLysPheSerAsnValThrMetLeuPheSerAspIleValGlyPheThrAlaIleCysSerGlnCysSerProLeuGlnValIleThrMetLeuAsnAlaLeuTyrThrArgPheAspGlnGlnCysGlyGluLeuAspValTyrLysValGluThrIleGlyAspAlaTyrCysValAlaGlyGlyLeuHisLysGluSerAspThrHisAlaValGlnIleAlaLeuMetAlaLeuLysMetMetGluLeuSerAspGluValMetSerProHisGlyGluProIleLysMetArgIleGlyLeuHisSerGlySerValPheAlaGlyValValGlyValLysMetProArgTyrCysLeuPheGlyAsnAsnValThrLeuAlaAsnLysPheGluSerCysSerValProArgLysIleAsnValSerProThrThrTyrArgLeuLeuLysAspCysProGlyPheValPheThrProArgSerArgGluGluLeuProProAsnPheProSerGluIleProGlyIleCysHisPheLeuAspAlaTyrGlnGlnGlyThrAsnSerLysProCysPheGlnLysLysAspValGluAspGlyAsnAlaAsnPheLeuGlyLysAlaSerGlyIleAspTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS722072" }, { "@id": "http://reg.genome.network/allele/PA2828879421", "coordinates": [ { "allele": "T", "end": 1849, "referenceAllele": "C", "start": 1848 } ], "gene": "http://reg.genome.network/gene/GN004685", "geneNCBI_id": 2982, "geneSymbol": "GUCY1A1", "hgvs": [ "NM_001379671.1:c.1045C>T" ], "proteinEffect": { "hgvs": "NP_001366600.1:p.Arg349Ter", "hgvsWellDefined": "NP_001366600.1:p.Arg349_Asp690delinsValArgArgTrpAspAsnSerValLysLysSerSerArgValMetAspLeuLysGlyGlnMetIleTyrIleValGluSerSerAlaIleLeuPheLeuGlySerProCysValAspArgLeuGluAspPheThrGlyArgGlyLeuTyrLeuSerAspIleProIleHisAsnAlaLeuArgAspValValLeuIleGlyGluGlnAlaArgAlaGlnAspGlyLeuLysLysArgLeuGlyLysLeuLysAlaThrLeuGluGlnAlaHisGlnAlaLeuGluGluGluLysLysLysThrValAspLeuLeuCysSerIlePheProCysGluValAlaGlnGlnLeuTrpGlnGlyGlnValValGlnAlaLysLysPheSerAsnValThrMetLeuPheSerAspIleValGlyPheThrAlaIleCysSerGlnCysSerProLeuGlnValIleThrMetLeuAsnAlaLeuTyrThrArgPheAspGlnGlnCysGlyGluLeuAspValTyrLysValGluThrIleGlyAspAlaTyrCysValAlaGlyGlyLeuHisLysGluSerAspThrHisAlaValGlnIleAlaLeuMetAlaLeuLysMetMetGluLeuSerAspGluValMetSerProHisGlyGluProIleLysMetArgIleGlyLeuHisSerGlySerValPheAlaGlyValValGlyValLysMetProArgTyrCysLeuPheGlyAsnAsnValThrLeuAlaAsnLysPheGluSerCysSerValProArgLysIleAsnValSerProThrThrTyrArgLeuLeuLysAspCysProGlyPheValPheThrProArgSerArgGluGluLeuProProAsnPheProSerGluIleProGlyIleCysHisPheLeuAspAlaTyrGlnGlnGlyThrAsnSerLysProCysPheGlnLysLysAspValGluAspGlyAsnAlaAsnPheLeuGlyLysAlaSerGlyIleAspTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS722073" }, { "@id": "http://reg.genome.network/allele/PA2828879494", "coordinates": [ { "allele": "T", "end": 1518, "referenceAllele": "C", "start": 1517 } ], "gene": "http://reg.genome.network/gene/GN004685", "geneNCBI_id": 2982, "geneSymbol": "GUCY1A1", "hgvs": [ "NM_001379672.1:c.1045C>T" ], "proteinEffect": { "hgvs": "NP_001366601.1:p.Arg349Ter", "hgvsWellDefined": "NP_001366601.1:p.Arg349_Asp690delinsValArgArgTrpAspAsnSerValLysLysSerSerArgValMetAspLeuLysGlyGlnMetIleTyrIleValGluSerSerAlaIleLeuPheLeuGlySerProCysValAspArgLeuGluAspPheThrGlyArgGlyLeuTyrLeuSerAspIleProIleHisAsnAlaLeuArgAspValValLeuIleGlyGluGlnAlaArgAlaGlnAspGlyLeuLysLysArgLeuGlyLysLeuLysAlaThrLeuGluGlnAlaHisGlnAlaLeuGluGluGluLysLysLysThrValAspLeuLeuCysSerIlePheProCysGluValAlaGlnGlnLeuTrpGlnGlyGlnValValGlnAlaLysLysPheSerAsnValThrMetLeuPheSerAspIleValGlyPheThrAlaIleCysSerGlnCysSerProLeuGlnValIleThrMetLeuAsnAlaLeuTyrThrArgPheAspGlnGlnCysGlyGluLeuAspValTyrLysValGluThrIleGlyAspAlaTyrCysValAlaGlyGlyLeuHisLysGluSerAspThrHisAlaValGlnIleAlaLeuMetAlaLeuLysMetMetGluLeuSerAspGluValMetSerProHisGlyGluProIleLysMetArgIleGlyLeuHisSerGlySerValPheAlaGlyValValGlyValLysMetProArgTyrCysLeuPheGlyAsnAsnValThrLeuAlaAsnLysPheGluSerCysSerValProArgLysIleAsnValSerProThrThrTyrArgLeuLeuLysAspCysProGlyPheValPheThrProArgSerArgGluGluLeuProProAsnPheProSerGluIleProGlyIleCysHisPheLeuAspAlaTyrGlnGlnGlyThrAsnSerLysProCysPheGlnLysLysAspValGluAspGlyAsnAlaAsnPheLeuGlyLysAlaSerGlyIleAspTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS722074" }, { "@id": "http://reg.genome.network/allele/PA2828879567", "coordinates": [ { "allele": "T", "end": 1677, "referenceAllele": "C", "start": 1676 } ], "gene": "http://reg.genome.network/gene/GN004685", "geneNCBI_id": 2982, "geneSymbol": "GUCY1A1", "hgvs": [ "NM_001379673.1:c.1045C>T" ], "proteinEffect": { "hgvs": "NP_001366602.1:p.Arg349Ter", "hgvsWellDefined": "NP_001366602.1:p.Arg349_Asp690delinsValArgArgTrpAspAsnSerValLysLysSerSerArgValMetAspLeuLysGlyGlnMetIleTyrIleValGluSerSerAlaIleLeuPheLeuGlySerProCysValAspArgLeuGluAspPheThrGlyArgGlyLeuTyrLeuSerAspIleProIleHisAsnAlaLeuArgAspValValLeuIleGlyGluGlnAlaArgAlaGlnAspGlyLeuLysLysArgLeuGlyLysLeuLysAlaThrLeuGluGlnAlaHisGlnAlaLeuGluGluGluLysLysLysThrValAspLeuLeuCysSerIlePheProCysGluValAlaGlnGlnLeuTrpGlnGlyGlnValValGlnAlaLysLysPheSerAsnValThrMetLeuPheSerAspIleValGlyPheThrAlaIleCysSerGlnCysSerProLeuGlnValIleThrMetLeuAsnAlaLeuTyrThrArgPheAspGlnGlnCysGlyGluLeuAspValTyrLysValGluThrIleGlyAspAlaTyrCysValAlaGlyGlyLeuHisLysGluSerAspThrHisAlaValGlnIleAlaLeuMetAlaLeuLysMetMetGluLeuSerAspGluValMetSerProHisGlyGluProIleLysMetArgIleGlyLeuHisSerGlySerValPheAlaGlyValValGlyValLysMetProArgTyrCysLeuPheGlyAsnAsnValThrLeuAlaAsnLysPheGluSerCysSerValProArgLysIleAsnValSerProThrThrTyrArgLeuLeuLysAspCysProGlyPheValPheThrProArgSerArgGluGluLeuProProAsnPheProSerGluIleProGlyIleCysHisPheLeuAspAlaTyrGlnGlnGlyThrAsnSerLysProCysPheGlnLysLysAspValGluAspGlyAsnAlaAsnPheLeuGlyLysAlaSerGlyIleAspTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS722075" }, { "@id": "http://reg.genome.network/allele/PA2828879640", "coordinates": [ { "allele": "T", "end": 1378, "referenceAllele": "C", "start": 1377 } ], "gene": "http://reg.genome.network/gene/GN004685", "geneNCBI_id": 2982, "geneSymbol": "GUCY1A1", "hgvs": [ "NM_001379674.1:c.1045C>T" ], "proteinEffect": { "hgvs": "NP_001366603.1:p.Arg349Ter", "hgvsWellDefined": "NP_001366603.1:p.Arg349_Asp690delinsValArgArgTrpAspAsnSerValLysLysSerSerArgValMetAspLeuLysGlyGlnMetIleTyrIleValGluSerSerAlaIleLeuPheLeuGlySerProCysValAspArgLeuGluAspPheThrGlyArgGlyLeuTyrLeuSerAspIleProIleHisAsnAlaLeuArgAspValValLeuIleGlyGluGlnAlaArgAlaGlnAspGlyLeuLysLysArgLeuGlyLysLeuLysAlaThrLeuGluGlnAlaHisGlnAlaLeuGluGluGluLysLysLysThrValAspLeuLeuCysSerIlePheProCysGluValAlaGlnGlnLeuTrpGlnGlyGlnValValGlnAlaLysLysPheSerAsnValThrMetLeuPheSerAspIleValGlyPheThrAlaIleCysSerGlnCysSerProLeuGlnValIleThrMetLeuAsnAlaLeuTyrThrArgPheAspGlnGlnCysGlyGluLeuAspValTyrLysValGluThrIleGlyAspAlaTyrCysValAlaGlyGlyLeuHisLysGluSerAspThrHisAlaValGlnIleAlaLeuMetAlaLeuLysMetMetGluLeuSerAspGluValMetSerProHisGlyGluProIleLysMetArgIleGlyLeuHisSerGlySerValPheAlaGlyValValGlyValLysMetProArgTyrCysLeuPheGlyAsnAsnValThrLeuAlaAsnLysPheGluSerCysSerValProArgLysIleAsnValSerProThrThrTyrArgLeuLeuLysAspCysProGlyPheValPheThrProArgSerArgGluGluLeuProProAsnPheProSerGluIleProGlyIleCysHisPheLeuAspAlaTyrGlnGlnGlyThrAsnSerLysProCysPheGlnLysLysAspValGluAspGlyAsnAlaAsnPheLeuGlyLysAlaSerGlyIleAspTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS722076" }, { "@id": "http://reg.genome.network/allele/PA2573076759", "coordinates": [ { "allele": "T", "end": 1428, "referenceAllele": "C", "start": 1427 } ], "gene": "http://reg.genome.network/gene/GN004685", "geneNCBI_id": 2982, "geneSymbol": "GUCY1A1", "hgvs": [ "NM_001379675.1:c.1045C>T" ], "proteinEffect": { "hgvs": "NP_001366604.1:p.Arg349Ter", "hgvsWellDefined": "NP_001366604.1:p.Arg349_Pro595delinsValArgArgTrpAspAsnSerValLysLysSerSerArgValMetAspLeuLysGlyGlnMetIleTyrIleValGluSerSerAlaIleLeuPheLeuGlySerProCysValAspArgLeuGluAspPheThrGlyArgGlyLeuTyrLeuSerAspIleProIleHisAsnAlaLeuArgAspValValLeuIleGlyGluGlnAlaArgAlaGlnAspGlyLeuLysLysArgLeuGlyLysLeuLysAlaThrLeuGluGlnAlaHisGlnAlaLeuGluGluGluLysLysLysThrValAspLeuLeuCysSerIlePheProCysGluValAlaGlnGlnLeuTrpGlnGlyGlnValValGlnAlaLysLysPheSerAsnValThrMetLeuPheSerAspIleValGlyPheThrAlaIleCysSerGlnCysSerProLeuGlnValIleThrMetLeuAsnAlaLeuTyrThrArgPheAspGlnGlnCysGlyGluLeuAspValTyrLysValGluThrIleGlyAspAlaTyrCysValAlaGlyGlyLeuHisLysGluSerAspThrHisAlaValGlnIleAlaLeuMetAlaLeuLysMetMetGluLeuSerAspGluValMetSerProHisGlyGluProIleLysIleThrGlnArgLeuSerTrpPheArgValTyrProSerIleLysGlyGlyThrSerThrLysLeuProTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS722077" }, { "@id": "http://reg.genome.network/allele/PA2828879728", "coordinates": [ { "allele": "T", "end": 842, "referenceAllele": "C", "start": 841 } ], "gene": "http://reg.genome.network/gene/GN004685", "geneNCBI_id": 2982, "geneSymbol": "GUCY1A1", "hgvs": [ "NM_001379676.1:c.538C>T" ], "proteinEffect": { "hgvs": "NP_001366605.1:p.Arg180Ter", "hgvsWellDefined": "NP_001366605.1:p.Arg180_Asp521delinsValArgArgTrpAspAsnSerValLysLysSerSerArgValMetAspLeuLysGlyGlnMetIleTyrIleValGluSerSerAlaIleLeuPheLeuGlySerProCysValAspArgLeuGluAspPheThrGlyArgGlyLeuTyrLeuSerAspIleProIleHisAsnAlaLeuArgAspValValLeuIleGlyGluGlnAlaArgAlaGlnAspGlyLeuLysLysArgLeuGlyLysLeuLysAlaThrLeuGluGlnAlaHisGlnAlaLeuGluGluGluLysLysLysThrValAspLeuLeuCysSerIlePheProCysGluValAlaGlnGlnLeuTrpGlnGlyGlnValValGlnAlaLysLysPheSerAsnValThrMetLeuPheSerAspIleValGlyPheThrAlaIleCysSerGlnCysSerProLeuGlnValIleThrMetLeuAsnAlaLeuTyrThrArgPheAspGlnGlnCysGlyGluLeuAspValTyrLysValGluThrIleGlyAspAlaTyrCysValAlaGlyGlyLeuHisLysGluSerAspThrHisAlaValGlnIleAlaLeuMetAlaLeuLysMetMetGluLeuSerAspGluValMetSerProHisGlyGluProIleLysMetArgIleGlyLeuHisSerGlySerValPheAlaGlyValValGlyValLysMetProArgTyrCysLeuPheGlyAsnAsnValThrLeuAlaAsnLysPheGluSerCysSerValProArgLysIleAsnValSerProThrThrTyrArgLeuLeuLysAspCysProGlyPheValPheThrProArgSerArgGluGluLeuProProAsnPheProSerGluIleProGlyIleCysHisPheLeuAspAlaTyrGlnGlnGlyThrAsnSerLysProCysPheGlnLysLysAspValGluAspGlyAsnAlaAsnPheLeuGlyLysAlaSerGlyIleAspTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS722078" } ], "type": "nucleotide" }