{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA365825397", "communityStandardTitle": [ "NM_198569.3(ADGRG6):c.2219T>A (p.Leu740Ter)" ], "externalRecords": { "ClinVarAlleles": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=1334279[alleleid]", "alleleId": 1334279, "preferredName": "NM_198569.3(ADGRG6):c.2219T>A (p.Leu740Ter)" } ], "ClinVarVariations": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/1342704", "RCV": [ "RCV001839465" ], "variationId": 1342704 } ], "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chr6:g.142726916T>A?assembly=hg19", "id": "chr6:g.142726916T>A" } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chr6:g.142405779T>A?assembly=hg38", "id": "chr6:g.142405779T>A" } ], "dbSNP": [ { "@id": "http://www.ncbi.nlm.nih.gov/snp/2115031969", "rs": 2115031969 } ] }, "genomicAlleles": [ { "chromosome": "6", "coordinates": [ { "allele": "A", "end": 142405779, "referenceAllele": "T", "start": 142405778 } ], "hgvs": [ "NC_000006.12:g.142405779T>A", "CM000668.2:g.142405779T>A" ], "referenceGenome": "GRCh38", "referenceSequence": "http://reg.genome.network/refseq/RS000054" }, { "chromosome": "6", "coordinates": [ { "allele": "A", "end": 142726916, "referenceAllele": "T", "start": 142726915 } ], "hgvs": [ "NC_000006.11:g.142726916T>A", "CM000668.1:g.142726916T>A" ], "referenceGenome": "GRCh37", "referenceSequence": "http://reg.genome.network/refseq/RS000030" }, { "chromosome": "6", "coordinates": [ { "allele": "A", "end": 142768609, "referenceAllele": "T", "start": 142768608 } ], "hgvs": [ "NC_000006.10:g.142768609T>A" ], "referenceGenome": "NCBI36", "referenceSequence": "http://reg.genome.network/refseq/RS000006" }, { "coordinates": [ { "allele": "A", "end": 108861, "referenceAllele": "T", "start": 108860 } ], "hgvs": [ "NG_011839.1:g.108861T>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS002019" } ], "transcriptAlleles": [ { "coordinates": [ { "allele": "A", "end": 2458, "referenceAllele": "T", "start": 2457 } ], "gene": "http://reg.genome.network/gene/GN013841", "geneNCBI_id": 57211, "geneSymbol": "ADGRG6", "hgvs": [ "ENST00000296932.13:c.2135T>A" ], "proteinEffect": { "hgvs": "ENSP00000296932.8:p.Leu712Ter", "hgvsWellDefined": "ENSP00000296932.8:p.Leu712_Cys1193delinsValArgArgAlaGlnPheThrPhePheAsnLysThrGlyLeuPheGlnAspValGlyProGlnArgLysThrLeuValSerTyrValMetAlaCysSerIleGlyAsnIleThrIleGlnAsnLeuLysAspProValGlnIleLysIleLysHisThrArgThrGlnGluValHisHisProIleCysAlaPheTrpAspLeuAsnLysAsnLysSerPheGlyGlyTrpAsnThrSerGlyCysValAlaHisArgAspSerAspAlaSerGluThrValCysLeuCysAsnHisPheThrHisPheGlyValLeuMetAspLeuProArgSerAlaSerGlnLeuAspAlaArgAsnThrLysValLeuThrPheIleSerTyrIleGlyCysGlyIleSerAlaIlePheSerAlaAlaThrLeuLeuThrTyrValAlaPheGluLysLeuArgArgAspTyrProSerLysIleLeuMetAsnLeuSerThrAlaLeuLeuPheLeuAsnLeuLeuPheLeuLeuAspGlyTrpIleThrSerPheAsnValAspGlyLeuCysIleAlaValAlaValLeuLeuHisPhePheLeuLeuAlaThrPheThrTrpMetGlyLeuGluAlaIleHisMetTyrIleAlaLeuValLysValPheAsnThrTyrIleArgArgTyrIleLeuLysPheCysIleIleGlyTrpGlyLeuProAlaLeuValValSerValValLeuAlaSerArgAsnAsnAsnGluValTyrGlyLysGluSerTyrGlyLysGluLysGlyAspGluPheCysTrpIleGlnAspProValIlePheTyrValThrCysAlaGlyTyrPheGlyValMetPhePheLeuAsnIleAlaMetPheIleValValMetValGlnIleCysGlyArgAsnGlyLysArgSerAsnArgThrLeuArgGluGluValLeuArgAsnLeuArgSerValValSerLeuThrPheLeuLeuGlyMetThrTrpGlyPheAlaPhePheAlaTrpGlyProLeuAsnIleProPheMetTyrLeuPheSerIlePheAsnSerLeuGlnGlyLeuPheIlePheIlePheHisCysAlaMetLysGluAsnValGlnLysGlnTrpArgGlnHisLeuCysCysGlyArgPheArgLeuAlaAspAsnSerAspTrpSerLysThrAlaThrAsnIleIleLysLysSerSerAspAsnLeuGlyLysSerLeuSerSerSerSerIleGlySerAsnSerThrTyrLeuThrSerLysSerLysSerSerSerThrThrTyrPheLysArgAsnSerHisThrAspAsnValSerTyrGluHisSerPheAsnLysSerGlySerLeuArgGlnCysPheHisGlyGlnValLeuValLysThrGlyProCysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS744485" }, { "coordinates": [ { "allele": "A", "end": 2542, "referenceAllele": "T", "start": 2541 } ], "gene": "http://reg.genome.network/gene/GN013841", "geneNCBI_id": 57211, "geneSymbol": "ADGRG6", "hgvs": [ "ENST00000367609.8:c.2219T>A" ], "proteinEffect": { "hgvs": "ENSP00000356581.3:p.Leu740Ter", "hgvsWellDefined": "ENSP00000356581.3:p.Leu740_Phe1250delinsValArgArgAlaGlnPheThrPhePheAsnLysThrGlyLeuPheGlnAspValGlyProGlnArgLysThrLeuValSerTyrValMetAlaCysSerIleGlyAsnIleThrIleGlnAsnLeuLysAspProValGlnIleLysIleLysHisThrArgThrGlnGluValHisHisProIleCysAlaPheTrpAspLeuAsnLysAsnLysSerPheGlyGlyTrpAsnThrSerGlyCysValAlaHisArgAspSerAspAlaSerGluThrValCysLeuCysAsnHisPheThrHisPheGlyValLeuMetAspLeuProArgSerAlaSerGlnLeuAspAlaArgAsnThrLysValLeuThrPheIleSerTyrIleGlyCysGlyIleSerAlaIlePheSerAlaAlaThrLeuLeuThrTyrValAlaPheGluLysLeuArgArgAspTyrProSerLysIleLeuMetAsnLeuSerThrAlaLeuLeuPheLeuAsnLeuLeuPheLeuLeuAspGlyTrpIleThrSerPheAsnValAspGlyLeuCysIleAlaValAlaValLeuLeuHisPhePheLeuLeuAlaThrPheThrTrpMetGlyLeuGluAlaIleHisMetTyrIleAlaLeuValLysValPheAsnThrTyrIleArgArgTyrIleLeuLysPheCysIleIleGlyTrpGlyLeuProAlaLeuValValSerValValLeuAlaSerArgAsnAsnAsnGluValTyrGlyLysGluSerTyrGlyLysGluLysGlyAspGluPheCysTrpIleGlnAspProValIlePheTyrValThrCysAlaGlyTyrPheGlyValMetPhePheLeuAsnIleAlaMetPheIleValValMetValGlnIleCysGlyArgAsnGlyLysArgSerAsnArgThrLeuArgGluGluValLeuArgAsnLeuArgSerValValSerLeuThrPheLeuLeuGlyMetThrTrpGlyPheAlaPhePheAlaTrpGlyProLeuAsnIleProPheMetTyrLeuPheSerIlePheAsnSerLeuGlnGlyLeuPheIlePheIlePheHisCysAlaMetLysGluAsnValGlnLysGlnTrpArgGlnHisLeuCysCysGlyArgPheArgLeuAlaAspAsnSerAspTrpSerLysThrAlaThrAsnIleIleLysLysSerSerAspAsnLeuGlyLysSerLeuSerSerSerSerIleGlySerAsnSerThrTyrLeuThrSerLysSerLysSerSerSerThrThrTyrPheLysArgAsnSerHisThrAspSerAlaSerMetAspLysSerLeuSerLysLeuAlaHisAlaAspGlyAspGlnThrSerIleIleProValHisGlnValIleAspLysValLysGlyTyrCysAsnAlaHisSerAspAsnPheTyrLysAsnIleIleMetSerAspThrPheSerHisSerThrLysPheTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS750051", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000367609.8:c.2219T>A" }, "RefSeq": { "hgvs": "NM_198569.3:c.2219T>A" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000356581.3:p.Leu740Ter" }, "RefSeq": { "hgvs": "NP_940971.2:p.Leu740Ter" } } } }, { "coordinates": [ { "allele": "A", "end": 2695, "referenceAllele": "T", "start": 2694 } ], "gene": "http://reg.genome.network/gene/GN013841", "geneNCBI_id": 57211, "geneSymbol": "ADGRG6", "hgvs": [ "ENST00000230173.10:c.2219T>A" ], "proteinEffect": { "hgvs": "ENSP00000230173.6:p.Leu740Ter", "hgvsWellDefined": "ENSP00000230173.6:p.Leu740_Cys1221delinsValArgArgAlaGlnPheThrPhePheAsnLysThrGlyLeuPheGlnAspValGlyProGlnArgLysThrLeuValSerTyrValMetAlaCysSerIleGlyAsnIleThrIleGlnAsnLeuLysAspProValGlnIleLysIleLysHisThrArgThrGlnGluValHisHisProIleCysAlaPheTrpAspLeuAsnLysAsnLysSerPheGlyGlyTrpAsnThrSerGlyCysValAlaHisArgAspSerAspAlaSerGluThrValCysLeuCysAsnHisPheThrHisPheGlyValLeuMetAspLeuProArgSerAlaSerGlnLeuAspAlaArgAsnThrLysValLeuThrPheIleSerTyrIleGlyCysGlyIleSerAlaIlePheSerAlaAlaThrLeuLeuThrTyrValAlaPheGluLysLeuArgArgAspTyrProSerLysIleLeuMetAsnLeuSerThrAlaLeuLeuPheLeuAsnLeuLeuPheLeuLeuAspGlyTrpIleThrSerPheAsnValAspGlyLeuCysIleAlaValAlaValLeuLeuHisPhePheLeuLeuAlaThrPheThrTrpMetGlyLeuGluAlaIleHisMetTyrIleAlaLeuValLysValPheAsnThrTyrIleArgArgTyrIleLeuLysPheCysIleIleGlyTrpGlyLeuProAlaLeuValValSerValValLeuAlaSerArgAsnAsnAsnGluValTyrGlyLysGluSerTyrGlyLysGluLysGlyAspGluPheCysTrpIleGlnAspProValIlePheTyrValThrCysAlaGlyTyrPheGlyValMetPhePheLeuAsnIleAlaMetPheIleValValMetValGlnIleCysGlyArgAsnGlyLysArgSerAsnArgThrLeuArgGluGluValLeuArgAsnLeuArgSerValValSerLeuThrPheLeuLeuGlyMetThrTrpGlyPheAlaPhePheAlaTrpGlyProLeuAsnIleProPheMetTyrLeuPheSerIlePheAsnSerLeuGlnGlyLeuPheIlePheIlePheHisCysAlaMetLysGluAsnValGlnLysGlnTrpArgGlnHisLeuCysCysGlyArgPheArgLeuAlaAspAsnSerAspTrpSerLysThrAlaThrAsnIleIleLysLysSerSerAspAsnLeuGlyLysSerLeuSerSerSerSerIleGlySerAsnSerThrTyrLeuThrSerLysSerLysSerSerSerThrThrTyrPheLysArgAsnSerHisThrAspAsnValSerTyrGluHisSerPheAsnLysSerGlySerLeuArgGlnCysPheHisGlyGlnValLeuValLysThrGlyProCysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS248734" }, { "coordinates": [ { "allele": "A", "end": 2536, "referenceAllele": "T", "start": 2535 } ], "gene": "http://reg.genome.network/gene/GN013841", "geneNCBI_id": 57211, "geneSymbol": "ADGRG6", "hgvs": [ "ENST00000296932.12:c.2135T>A" ], "proteinEffect": { "hgvs": "ENSP00000296932.8:p.Leu712Ter", "hgvsWellDefined": "ENSP00000296932.8:p.Leu712_Cys1193delinsValArgArgAlaGlnPheThrPhePheAsnLysThrGlyLeuPheGlnAspValGlyProGlnArgLysThrLeuValSerTyrValMetAlaCysSerIleGlyAsnIleThrIleGlnAsnLeuLysAspProValGlnIleLysIleLysHisThrArgThrGlnGluValHisHisProIleCysAlaPheTrpAspLeuAsnLysAsnLysSerPheGlyGlyTrpAsnThrSerGlyCysValAlaHisArgAspSerAspAlaSerGluThrValCysLeuCysAsnHisPheThrHisPheGlyValLeuMetAspLeuProArgSerAlaSerGlnLeuAspAlaArgAsnThrLysValLeuThrPheIleSerTyrIleGlyCysGlyIleSerAlaIlePheSerAlaAlaThrLeuLeuThrTyrValAlaPheGluLysLeuArgArgAspTyrProSerLysIleLeuMetAsnLeuSerThrAlaLeuLeuPheLeuAsnLeuLeuPheLeuLeuAspGlyTrpIleThrSerPheAsnValAspGlyLeuCysIleAlaValAlaValLeuLeuHisPhePheLeuLeuAlaThrPheThrTrpMetGlyLeuGluAlaIleHisMetTyrIleAlaLeuValLysValPheAsnThrTyrIleArgArgTyrIleLeuLysPheCysIleIleGlyTrpGlyLeuProAlaLeuValValSerValValLeuAlaSerArgAsnAsnAsnGluValTyrGlyLysGluSerTyrGlyLysGluLysGlyAspGluPheCysTrpIleGlnAspProValIlePheTyrValThrCysAlaGlyTyrPheGlyValMetPhePheLeuAsnIleAlaMetPheIleValValMetValGlnIleCysGlyArgAsnGlyLysArgSerAsnArgThrLeuArgGluGluValLeuArgAsnLeuArgSerValValSerLeuThrPheLeuLeuGlyMetThrTrpGlyPheAlaPhePheAlaTrpGlyProLeuAsnIleProPheMetTyrLeuPheSerIlePheAsnSerLeuGlnGlyLeuPheIlePheIlePheHisCysAlaMetLysGluAsnValGlnLysGlnTrpArgGlnHisLeuCysCysGlyArgPheArgLeuAlaAspAsnSerAspTrpSerLysThrAlaThrAsnIleIleLysLysSerSerAspAsnLeuGlyLysSerLeuSerSerSerSerIleGlySerAsnSerThrTyrLeuThrSerLysSerLysSerSerSerThrThrTyrPheLysArgAsnSerHisThrAspAsnValSerTyrGluHisSerPheAsnLysSerGlySerLeuArgGlnCysPheHisGlyGlnValLeuValLysThrGlyProCysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS254407" }, { "coordinates": [ { "allele": "A", "end": 2606, "referenceAllele": "T", "start": 2605 } ], "gene": "http://reg.genome.network/gene/GN013841", "geneNCBI_id": 57211, "geneSymbol": "ADGRG6", "hgvs": [ "ENST00000367608.6:c.2135T>A" ], "proteinEffect": { "hgvs": "ENSP00000356580.2:p.Leu712Ter", "hgvsWellDefined": "ENSP00000356580.2:p.Leu712_Phe1222delinsValArgArgAlaGlnPheThrPhePheAsnLysThrGlyLeuPheGlnAspValGlyProGlnArgLysThrLeuValSerTyrValMetAlaCysSerIleGlyAsnIleThrIleGlnAsnLeuLysAspProValGlnIleLysIleLysHisThrArgThrGlnGluValHisHisProIleCysAlaPheTrpAspLeuAsnLysAsnLysSerPheGlyGlyTrpAsnThrSerGlyCysValAlaHisArgAspSerAspAlaSerGluThrValCysLeuCysAsnHisPheThrHisPheGlyValLeuMetAspLeuProArgSerAlaSerGlnLeuAspAlaArgAsnThrLysValLeuThrPheIleSerTyrIleGlyCysGlyIleSerAlaIlePheSerAlaAlaThrLeuLeuThrTyrValAlaPheGluLysLeuArgArgAspTyrProSerLysIleLeuMetAsnLeuSerThrAlaLeuLeuPheLeuAsnLeuLeuPheLeuLeuAspGlyTrpIleThrSerPheAsnValAspGlyLeuCysIleAlaValAlaValLeuLeuHisPhePheLeuLeuAlaThrPheThrTrpMetGlyLeuGluAlaIleHisMetTyrIleAlaLeuValLysValPheAsnThrTyrIleArgArgTyrIleLeuLysPheCysIleIleGlyTrpGlyLeuProAlaLeuValValSerValValLeuAlaSerArgAsnAsnAsnGluValTyrGlyLysGluSerTyrGlyLysGluLysGlyAspGluPheCysTrpIleGlnAspProValIlePheTyrValThrCysAlaGlyTyrPheGlyValMetPhePheLeuAsnIleAlaMetPheIleValValMetValGlnIleCysGlyArgAsnGlyLysArgSerAsnArgThrLeuArgGluGluValLeuArgAsnLeuArgSerValValSerLeuThrPheLeuLeuGlyMetThrTrpGlyPheAlaPhePheAlaTrpGlyProLeuAsnIleProPheMetTyrLeuPheSerIlePheAsnSerLeuGlnGlyLeuPheIlePheIlePheHisCysAlaMetLysGluAsnValGlnLysGlnTrpArgGlnHisLeuCysCysGlyArgPheArgLeuAlaAspAsnSerAspTrpSerLysThrAlaThrAsnIleIleLysLysSerSerAspAsnLeuGlyLysSerLeuSerSerSerSerIleGlySerAsnSerThrTyrLeuThrSerLysSerLysSerSerSerThrThrTyrPheLysArgAsnSerHisThrAspSerAlaSerMetAspLysSerLeuSerLysLeuAlaHisAlaAspGlyAspGlnThrSerIleIleProValHisGlnValIleAspLysValLysGlyTyrCysAsnAlaHisSerAspAsnPheTyrLysAsnIleIleMetSerAspThrPheSerHisSerThrLysPheTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS266489" }, { "coordinates": [ { "allele": "A", "end": 2620, "referenceAllele": "T", "start": 2619 } ], "gene": "http://reg.genome.network/gene/GN013841", "geneNCBI_id": 57211, "geneSymbol": "ADGRG6", "hgvs": [ "ENST00000367609.7:c.2219T>A" ], "proteinEffect": { "hgvs": "ENSP00000356581.3:p.Leu740Ter", "hgvsWellDefined": "ENSP00000356581.3:p.Leu740_Phe1250delinsValArgArgAlaGlnPheThrPhePheAsnLysThrGlyLeuPheGlnAspValGlyProGlnArgLysThrLeuValSerTyrValMetAlaCysSerIleGlyAsnIleThrIleGlnAsnLeuLysAspProValGlnIleLysIleLysHisThrArgThrGlnGluValHisHisProIleCysAlaPheTrpAspLeuAsnLysAsnLysSerPheGlyGlyTrpAsnThrSerGlyCysValAlaHisArgAspSerAspAlaSerGluThrValCysLeuCysAsnHisPheThrHisPheGlyValLeuMetAspLeuProArgSerAlaSerGlnLeuAspAlaArgAsnThrLysValLeuThrPheIleSerTyrIleGlyCysGlyIleSerAlaIlePheSerAlaAlaThrLeuLeuThrTyrValAlaPheGluLysLeuArgArgAspTyrProSerLysIleLeuMetAsnLeuSerThrAlaLeuLeuPheLeuAsnLeuLeuPheLeuLeuAspGlyTrpIleThrSerPheAsnValAspGlyLeuCysIleAlaValAlaValLeuLeuHisPhePheLeuLeuAlaThrPheThrTrpMetGlyLeuGluAlaIleHisMetTyrIleAlaLeuValLysValPheAsnThrTyrIleArgArgTyrIleLeuLysPheCysIleIleGlyTrpGlyLeuProAlaLeuValValSerValValLeuAlaSerArgAsnAsnAsnGluValTyrGlyLysGluSerTyrGlyLysGluLysGlyAspGluPheCysTrpIleGlnAspProValIlePheTyrValThrCysAlaGlyTyrPheGlyValMetPhePheLeuAsnIleAlaMetPheIleValValMetValGlnIleCysGlyArgAsnGlyLysArgSerAsnArgThrLeuArgGluGluValLeuArgAsnLeuArgSerValValSerLeuThrPheLeuLeuGlyMetThrTrpGlyPheAlaPhePheAlaTrpGlyProLeuAsnIleProPheMetTyrLeuPheSerIlePheAsnSerLeuGlnGlyLeuPheIlePheIlePheHisCysAlaMetLysGluAsnValGlnLysGlnTrpArgGlnHisLeuCysCysGlyArgPheArgLeuAlaAspAsnSerAspTrpSerLysThrAlaThrAsnIleIleLysLysSerSerAspAsnLeuGlyLysSerLeuSerSerSerSerIleGlySerAsnSerThrTyrLeuThrSerLysSerLysSerSerSerThrThrTyrPheLysArgAsnSerHisThrAspSerAlaSerMetAspLysSerLeuSerLysLeuAlaHisAlaAspGlyAspGlnThrSerIleIleProValHisGlnValIleAspLysValLysGlyTyrCysAsnAlaHisSerAspAsnPheTyrLysAsnIleIleMetSerAspThrPheSerHisSerThrLysPheTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS266490" }, { "coordinates": [ { "allele": "A", "end": 471, "referenceAllele": "T", "start": 470 } ], "gene": "http://reg.genome.network/gene/GN013841", "geneNCBI_id": 57211, "geneSymbol": "ADGRG6", "hgvs": [ "ENST00000538281.1:n.471T>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS361236" }, { "coordinates": [ { "allele": "A", "end": 392, "referenceAllele": "T", "start": 391 } ], "gene": "http://reg.genome.network/gene/GN013841", "geneNCBI_id": 57211, "geneSymbol": "ADGRG6", "hgvs": [ "ENST00000540208.1:c.392T>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS362275" }, { "coordinates": [ { "allele": "A", "end": 2546, "referenceAllele": "T", "start": 2545 } ], "gene": "http://reg.genome.network/gene/GN013841", "geneNCBI_id": 57211, "geneSymbol": "ADGRG6", "hgvs": [ "NM_001032394.2:c.2135T>A" ], "proteinEffect": { "hgvs": "NP_001027566.1:p.Leu712Ter", "hgvsWellDefined": "NP_001027566.1:p.Leu712_Cys1193delinsValArgArgAlaGlnPheThrPhePheAsnLysThrGlyLeuPheGlnAspValGlyProGlnArgLysThrLeuValSerTyrValMetAlaCysSerIleGlyAsnIleThrIleGlnAsnLeuLysAspProValGlnIleLysIleLysHisThrArgThrGlnGluValHisHisProIleCysAlaPheTrpAspLeuAsnLysAsnLysSerPheGlyGlyTrpAsnThrSerGlyCysValAlaHisArgAspSerAspAlaSerGluThrValCysLeuCysAsnHisPheThrHisPheGlyValLeuMetAspLeuProArgSerAlaSerGlnLeuAspAlaArgAsnThrLysValLeuThrPheIleSerTyrIleGlyCysGlyIleSerAlaIlePheSerAlaAlaThrLeuLeuThrTyrValAlaPheGluLysLeuArgArgAspTyrProSerLysIleLeuMetAsnLeuSerThrAlaLeuLeuPheLeuAsnLeuLeuPheLeuLeuAspGlyTrpIleThrSerPheAsnValAspGlyLeuCysIleAlaValAlaValLeuLeuHisPhePheLeuLeuAlaThrPheThrTrpMetGlyLeuGluAlaIleHisMetTyrIleAlaLeuValLysValPheAsnThrTyrIleArgArgTyrIleLeuLysPheCysIleIleGlyTrpGlyLeuProAlaLeuValValSerValValLeuAlaSerArgAsnAsnAsnGluValTyrGlyLysGluSerTyrGlyLysGluLysGlyAspGluPheCysTrpIleGlnAspProValIlePheTyrValThrCysAlaGlyTyrPheGlyValMetPhePheLeuAsnIleAlaMetPheIleValValMetValGlnIleCysGlyArgAsnGlyLysArgSerAsnArgThrLeuArgGluGluValLeuArgAsnLeuArgSerValValSerLeuThrPheLeuLeuGlyMetThrTrpGlyPheAlaPhePheAlaTrpGlyProLeuAsnIleProPheMetTyrLeuPheSerIlePheAsnSerLeuGlnGlyLeuPheIlePheIlePheHisCysAlaMetLysGluAsnValGlnLysGlnTrpArgArgHisLeuCysCysGlyArgPheArgLeuAlaAspAsnSerAspTrpSerLysThrAlaThrAsnIleIleLysLysSerSerAspAsnLeuGlyLysSerLeuSerSerSerSerIleGlySerAsnSerThrTyrLeuThrSerLysSerLysSerSerSerThrThrTyrPheLysArgAsnSerHisThrAspAsnValSerTyrGluHisSerPheAsnLysSerGlySerLeuArgGlnCysPheHisGlyGlnValLeuValLysThrGlyProCysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS009082" }, { "coordinates": [ { "allele": "A", "end": 2546, "referenceAllele": "T", "start": 2545 } ], "gene": "http://reg.genome.network/gene/GN013841", "geneNCBI_id": 57211, "geneSymbol": "ADGRG6", "hgvs": [ "NM_001032395.2:c.2135T>A" ], "proteinEffect": { "hgvs": "NP_001027567.1:p.Leu712Ter", "hgvsWellDefined": "NP_001027567.1:p.Leu712_Phe1222delinsValArgArgAlaGlnPheThrPhePheAsnLysThrGlyLeuPheGlnAspValGlyProGlnArgLysThrLeuValSerTyrValMetAlaCysSerIleGlyAsnIleThrIleGlnAsnLeuLysAspProValGlnIleLysIleLysHisThrArgThrGlnGluValHisHisProIleCysAlaPheTrpAspLeuAsnLysAsnLysSerPheGlyGlyTrpAsnThrSerGlyCysValAlaHisArgAspSerAspAlaSerGluThrValCysLeuCysAsnHisPheThrHisPheGlyValLeuMetAspLeuProArgSerAlaSerGlnLeuAspAlaArgAsnThrLysValLeuThrPheIleSerTyrIleGlyCysGlyIleSerAlaIlePheSerAlaAlaThrLeuLeuThrTyrValAlaPheGluLysLeuArgArgAspTyrProSerLysIleLeuMetAsnLeuSerThrAlaLeuLeuPheLeuAsnLeuLeuPheLeuLeuAspGlyTrpIleThrSerPheAsnValAspGlyLeuCysIleAlaValAlaValLeuLeuHisPhePheLeuLeuAlaThrPheThrTrpMetGlyLeuGluAlaIleHisMetTyrIleAlaLeuValLysValPheAsnThrTyrIleArgArgTyrIleLeuLysPheCysIleIleGlyTrpGlyLeuProAlaLeuValValSerValValLeuAlaSerArgAsnAsnAsnGluValTyrGlyLysGluSerTyrGlyLysGluLysGlyAspGluPheCysTrpIleGlnAspProValIlePheTyrValThrCysAlaGlyTyrPheGlyValMetPhePheLeuAsnIleAlaMetPheIleValValMetValGlnIleCysGlyArgAsnGlyLysArgSerAsnArgThrLeuArgGluGluValLeuArgAsnLeuArgSerValValSerLeuThrPheLeuLeuGlyMetThrTrpGlyPheAlaPhePheAlaTrpGlyProLeuAsnIleProPheMetTyrLeuPheSerIlePheAsnSerLeuGlnGlyLeuPheIlePheIlePheHisCysAlaMetLysGluAsnValGlnLysGlnTrpArgArgHisLeuCysCysGlyArgPheArgLeuAlaAspAsnSerAspTrpSerLysThrAlaThrAsnIleIleLysLysSerSerAspAsnLeuGlyLysSerLeuSerSerSerSerIleGlySerAsnSerThrTyrLeuThrSerLysSerLysSerSerSerThrThrTyrPheLysArgAsnSerHisThrAspSerAlaSerMetAspLysSerLeuSerLysLeuAlaHisAlaAspGlyAspGlnThrSerIleIleProValHisGlnValIleAspLysValLysGlyTyrCysAsnAlaHisSerAspAsnPheTyrLysAsnIleIleMetSerAspThrPheSerHisSerThrLysPheTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS009083" }, { "coordinates": [ { "allele": "A", "end": 2630, "referenceAllele": "T", "start": 2629 } ], "gene": "http://reg.genome.network/gene/GN013841", "geneNCBI_id": 57211, "geneSymbol": "ADGRG6", "hgvs": [ "NM_020455.5:c.2219T>A" ], "proteinEffect": { "hgvs": "NP_065188.4:p.Leu740Ter", "hgvsWellDefined": "NP_065188.4:p.Leu740_Cys1221delinsValArgArgAlaGlnPheThrPhePheAsnLysThrGlyLeuPheGlnAspValGlyProGlnArgLysThrLeuValSerTyrValMetAlaCysSerIleGlyAsnIleThrIleGlnAsnLeuLysAspProValGlnIleLysIleLysHisThrArgThrGlnGluValHisHisProIleCysAlaPheTrpAspLeuAsnLysAsnLysSerPheGlyGlyTrpAsnThrSerGlyCysValAlaHisArgAspSerAspAlaSerGluThrValCysLeuCysAsnHisPheThrHisPheGlyValLeuMetAspLeuProArgSerAlaSerGlnLeuAspAlaArgAsnThrLysValLeuThrPheIleSerTyrIleGlyCysGlyIleSerAlaIlePheSerAlaAlaThrLeuLeuThrTyrValAlaPheGluLysLeuArgArgAspTyrProSerLysIleLeuMetAsnLeuSerThrAlaLeuLeuPheLeuAsnLeuLeuPheLeuLeuAspGlyTrpIleThrSerPheAsnValAspGlyLeuCysIleAlaValAlaValLeuLeuHisPhePheLeuLeuAlaThrPheThrTrpMetGlyLeuGluAlaIleHisMetTyrIleAlaLeuValLysValPheAsnThrTyrIleArgArgTyrIleLeuLysPheCysIleIleGlyTrpGlyLeuProAlaLeuValValSerValValLeuAlaSerArgAsnAsnAsnGluValTyrGlyLysGluSerTyrGlyLysGluLysGlyAspGluPheCysTrpIleGlnAspProValIlePheTyrValThrCysAlaGlyTyrPheGlyValMetPhePheLeuAsnIleAlaMetPheIleValValMetValGlnIleCysGlyArgAsnGlyLysArgSerAsnArgThrLeuArgGluGluValLeuArgAsnLeuArgSerValValSerLeuThrPheLeuLeuGlyMetThrTrpGlyPheAlaPhePheAlaTrpGlyProLeuAsnIleProPheMetTyrLeuPheSerIlePheAsnSerLeuGlnGlyLeuPheIlePheIlePheHisCysAlaMetLysGluAsnValGlnLysGlnTrpArgArgHisLeuCysCysGlyArgPheArgLeuAlaAspAsnSerAspTrpSerLysThrAlaThrAsnIleIleLysLysSerSerAspAsnLeuGlyLysSerLeuSerSerSerSerIleGlySerAsnSerThrTyrLeuThrSerLysSerLysSerSerSerThrThrTyrPheLysArgAsnSerHisThrAspAsnValSerTyrGluHisSerPheAsnLysSerGlySerLeuArgGlnCysPheHisGlyGlnValLeuValLysThrGlyProCysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS036419" }, { "coordinates": [ { "allele": "A", "end": 2630, "referenceAllele": "T", "start": 2629 } ], "gene": "http://reg.genome.network/gene/GN013841", "geneNCBI_id": 57211, "geneSymbol": "ADGRG6", "hgvs": [ "NM_198569.2:c.2219T>A" ], "proteinEffect": { "hgvs": "NP_940971.1:p.Leu740Ter", "hgvsWellDefined": "NP_940971.1:p.Leu740_Phe1250delinsValArgArgAlaGlnPheThrPhePheAsnLysThrGlyLeuPheGlnAspValGlyProGlnArgLysThrLeuValSerTyrValMetAlaCysSerIleGlyAsnIleThrIleGlnAsnLeuLysAspProValGlnIleLysIleLysHisThrArgThrGlnGluValHisHisProIleCysAlaPheTrpAspLeuAsnLysAsnLysSerPheGlyGlyTrpAsnThrSerGlyCysValAlaHisArgAspSerAspAlaSerGluThrValCysLeuCysAsnHisPheThrHisPheGlyValLeuMetAspLeuProArgSerAlaSerGlnLeuAspAlaArgAsnThrLysValLeuThrPheIleSerTyrIleGlyCysGlyIleSerAlaIlePheSerAlaAlaThrLeuLeuThrTyrValAlaPheGluLysLeuArgArgAspTyrProSerLysIleLeuMetAsnLeuSerThrAlaLeuLeuPheLeuAsnLeuLeuPheLeuLeuAspGlyTrpIleThrSerPheAsnValAspGlyLeuCysIleAlaValAlaValLeuLeuHisPhePheLeuLeuAlaThrPheThrTrpMetGlyLeuGluAlaIleHisMetTyrIleAlaLeuValLysValPheAsnThrTyrIleArgArgTyrIleLeuLysPheCysIleIleGlyTrpGlyLeuProAlaLeuValValSerValValLeuAlaSerArgAsnAsnAsnGluValTyrGlyLysGluSerTyrGlyLysGluLysGlyAspGluPheCysTrpIleGlnAspProValIlePheTyrValThrCysAlaGlyTyrPheGlyValMetPhePheLeuAsnIleAlaMetPheIleValValMetValGlnIleCysGlyArgAsnGlyLysArgSerAsnArgThrLeuArgGluGluValLeuArgAsnLeuArgSerValValSerLeuThrPheLeuLeuGlyMetThrTrpGlyPheAlaPhePheAlaTrpGlyProLeuAsnIleProPheMetTyrLeuPheSerIlePheAsnSerLeuGlnGlyLeuPheIlePheIlePheHisCysAlaMetLysGluAsnValGlnLysGlnTrpArgArgHisLeuCysCysGlyArgPheArgLeuAlaAspAsnSerAspTrpSerLysThrAlaThrAsnIleIleLysLysSerSerAspAsnLeuGlyLysSerLeuSerSerSerSerIleGlySerAsnSerThrTyrLeuThrSerLysSerLysSerSerSerThrThrTyrPheLysArgAsnSerHisThrAspSerAlaSerMetAspLysSerLeuSerLysLeuAlaHisAlaAspGlyAspGlnThrSerIleIleProValHisGlnValIleAspLysValLysGlyTyrCysAsnAlaHisSerAspAsnPheTyrLysAsnIleIleMetSerAspThrPheSerHisSerThrLysPheTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS044665" }, { "coordinates": [ { "allele": "A", "end": 2531, "referenceAllele": "T", "start": 2530 } ], "gene": "http://reg.genome.network/gene/GN013841", "geneNCBI_id": 57211, "geneSymbol": "ADGRG6", "hgvs": [ "XM_005267061.2:c.2222T>A" ], "proteinEffect": { "hgvs": "XP_005267118.1:p.Leu741Ter", "hgvsWellDefined": "XP_005267118.1:p.Leu741_Cys1222delinsValArgArgAlaGlnPheThrPhePheAsnLysThrGlyLeuPheGlnAspValGlyProGlnArgLysThrLeuValSerTyrValMetAlaCysSerIleGlyAsnIleThrIleGlnAsnLeuLysAspProValGlnIleLysIleLysHisThrArgThrGlnGluValHisHisProIleCysAlaPheTrpAspLeuAsnLysAsnLysSerPheGlyGlyTrpAsnThrSerGlyCysValAlaHisArgAspSerAspAlaSerGluThrValCysLeuCysAsnHisPheThrHisPheGlyValLeuMetAspLeuProArgSerAlaSerGlnLeuAspAlaArgAsnThrLysValLeuThrPheIleSerTyrIleGlyCysGlyIleSerAlaIlePheSerAlaAlaThrLeuLeuThrTyrValAlaPheGluLysLeuArgArgAspTyrProSerLysIleLeuMetAsnLeuSerThrAlaLeuLeuPheLeuAsnLeuLeuPheLeuLeuAspGlyTrpIleThrSerPheAsnValAspGlyLeuCysIleAlaValAlaValLeuLeuHisPhePheLeuLeuAlaThrPheThrTrpMetGlyLeuGluAlaIleHisMetTyrIleAlaLeuValLysValPheAsnThrTyrIleArgArgTyrIleLeuLysPheCysIleIleGlyTrpGlyLeuProAlaLeuValValSerValValLeuAlaSerArgAsnAsnAsnGluValTyrGlyLysGluSerTyrGlyLysGluLysGlyAspGluPheCysTrpIleGlnAspProValIlePheTyrValThrCysAlaGlyTyrPheGlyValMetPhePheLeuAsnIleAlaMetPheIleValValMetValGlnIleCysGlyArgAsnGlyLysArgSerAsnArgThrLeuArgGluGluValLeuArgAsnLeuArgSerValValSerLeuThrPheLeuLeuGlyMetThrTrpGlyPheAlaPhePheAlaTrpGlyProLeuAsnIleProPheMetTyrLeuPheSerIlePheAsnSerLeuGlnGlyLeuPheIlePheIlePheHisCysAlaMetLysGluAsnValGlnLysGlnTrpArgGlnHisLeuCysCysGlyArgPheArgLeuAlaAspAsnSerAspTrpSerLysThrAlaThrAsnIleIleLysLysSerSerAspAsnLeuGlyLysSerLeuSerSerSerSerIleGlySerAsnSerThrTyrLeuThrSerLysSerLysSerSerSerThrThrTyrPheLysArgAsnSerHisThrAspAsnValSerTyrGluHisSerPheAsnLysSerGlySerLeuArgGlnCysPheHisGlyGlnValLeuValLysThrGlyProCysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS065278" }, { "coordinates": [ { "allele": "A", "end": 2531, "referenceAllele": "T", "start": 2530 } ], "gene": "http://reg.genome.network/gene/GN013841", "geneNCBI_id": 57211, "geneSymbol": "ADGRG6", "hgvs": [ "XM_006715516.2:c.2222T>A" ], "proteinEffect": { "hgvs": "XP_006715579.1:p.Leu741Ter", "hgvsWellDefined": "XP_006715579.1:p.Leu741_Phe1251delinsValArgArgAlaGlnPheThrPhePheAsnLysThrGlyLeuPheGlnAspValGlyProGlnArgLysThrLeuValSerTyrValMetAlaCysSerIleGlyAsnIleThrIleGlnAsnLeuLysAspProValGlnIleLysIleLysHisThrArgThrGlnGluValHisHisProIleCysAlaPheTrpAspLeuAsnLysAsnLysSerPheGlyGlyTrpAsnThrSerGlyCysValAlaHisArgAspSerAspAlaSerGluThrValCysLeuCysAsnHisPheThrHisPheGlyValLeuMetAspLeuProArgSerAlaSerGlnLeuAspAlaArgAsnThrLysValLeuThrPheIleSerTyrIleGlyCysGlyIleSerAlaIlePheSerAlaAlaThrLeuLeuThrTyrValAlaPheGluLysLeuArgArgAspTyrProSerLysIleLeuMetAsnLeuSerThrAlaLeuLeuPheLeuAsnLeuLeuPheLeuLeuAspGlyTrpIleThrSerPheAsnValAspGlyLeuCysIleAlaValAlaValLeuLeuHisPhePheLeuLeuAlaThrPheThrTrpMetGlyLeuGluAlaIleHisMetTyrIleAlaLeuValLysValPheAsnThrTyrIleArgArgTyrIleLeuLysPheCysIleIleGlyTrpGlyLeuProAlaLeuValValSerValValLeuAlaSerArgAsnAsnAsnGluValTyrGlyLysGluSerTyrGlyLysGluLysGlyAspGluPheCysTrpIleGlnAspProValIlePheTyrValThrCysAlaGlyTyrPheGlyValMetPhePheLeuAsnIleAlaMetPheIleValValMetValGlnIleCysGlyArgAsnGlyLysArgSerAsnArgThrLeuArgGluGluValLeuArgAsnLeuArgSerValValSerLeuThrPheLeuLeuGlyMetThrTrpGlyPheAlaPhePheAlaTrpGlyProLeuAsnIleProPheMetTyrLeuPheSerIlePheAsnSerLeuGlnGlyLeuPheIlePheIlePheHisCysAlaMetLysGluAsnValGlnLysGlnTrpArgGlnHisLeuCysCysGlyArgPheArgLeuAlaAspAsnSerAspTrpSerLysThrAlaThrAsnIleIleLysLysSerSerAspAsnLeuGlyLysSerLeuSerSerSerSerIleGlySerAsnSerThrTyrLeuThrSerLysSerLysSerSerSerThrThrTyrPheLysArgAsnSerHisThrAspSerAlaSerMetAspLysSerLeuSerLysLeuAlaHisAlaAspGlyAspGlnThrSerIleIleProValHisGlnValIleAspLysValLysGlyTyrCysAsnAlaHisSerAspAsnPheTyrLysAsnIleIleMetSerAspThrPheSerHisSerThrLysPheTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS071198" }, { "coordinates": [ { "allele": "A", "end": 2331, "referenceAllele": "T", "start": 2330 } ], "gene": "http://reg.genome.network/gene/GN013841", "geneNCBI_id": 57211, "geneSymbol": "ADGRG6", "hgvs": [ "XM_006715517.2:c.2216T>A" ], "proteinEffect": { "hgvs": "XP_006715580.1:p.Leu739Ter", "hgvsWellDefined": "XP_006715580.1:p.Leu739_Phe1249delinsValArgArgAlaGlnPheThrPhePheAsnLysThrGlyLeuPheGlnAspValGlyProGlnArgLysThrLeuValSerTyrValMetAlaCysSerIleGlyAsnIleThrIleGlnAsnLeuLysAspProValGlnIleLysIleLysHisThrArgThrGlnGluValHisHisProIleCysAlaPheTrpAspLeuAsnLysAsnLysSerPheGlyGlyTrpAsnThrSerGlyCysValAlaHisArgAspSerAspAlaSerGluThrValCysLeuCysAsnHisPheThrHisPheGlyValLeuMetAspLeuProArgSerAlaSerGlnLeuAspAlaArgAsnThrLysValLeuThrPheIleSerTyrIleGlyCysGlyIleSerAlaIlePheSerAlaAlaThrLeuLeuThrTyrValAlaPheGluLysLeuArgArgAspTyrProSerLysIleLeuMetAsnLeuSerThrAlaLeuLeuPheLeuAsnLeuLeuPheLeuLeuAspGlyTrpIleThrSerPheAsnValAspGlyLeuCysIleAlaValAlaValLeuLeuHisPhePheLeuLeuAlaThrPheThrTrpMetGlyLeuGluAlaIleHisMetTyrIleAlaLeuValLysValPheAsnThrTyrIleArgArgTyrIleLeuLysPheCysIleIleGlyTrpGlyLeuProAlaLeuValValSerValValLeuAlaSerArgAsnAsnAsnGluValTyrGlyLysGluSerTyrGlyLysGluLysGlyAspGluPheCysTrpIleGlnAspProValIlePheTyrValThrCysAlaGlyTyrPheGlyValMetPhePheLeuAsnIleAlaMetPheIleValValMetValGlnIleCysGlyArgAsnGlyLysArgSerAsnArgThrLeuArgGluGluValLeuArgAsnLeuArgSerValValSerLeuThrPheLeuLeuGlyMetThrTrpGlyPheAlaPhePheAlaTrpGlyProLeuAsnIleProPheMetTyrLeuPheSerIlePheAsnSerLeuGlnGlyLeuPheIlePheIlePheHisCysAlaMetLysGluAsnValGlnLysGlnTrpArgGlnHisLeuCysCysGlyArgPheArgLeuAlaAspAsnSerAspTrpSerLysThrAlaThrAsnIleIleLysLysSerSerAspAsnLeuGlyLysSerLeuSerSerSerSerIleGlySerAsnSerThrTyrLeuThrSerLysSerLysSerSerSerThrThrTyrPheLysArgAsnSerHisThrAspSerAlaSerMetAspLysSerLeuSerLysLeuAlaHisAlaAspGlyAspGlnThrSerIleIleProValHisGlnValIleAspLysValLysGlyTyrCysAsnAlaHisSerAspAsnPheTyrLysAsnIleIleMetSerAspThrPheSerHisSerThrLysPheTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS071199" }, { "coordinates": [ { "allele": "A", "end": 2447, "referenceAllele": "T", "start": 2446 } ], "gene": "http://reg.genome.network/gene/GN013841", "geneNCBI_id": 57211, "geneSymbol": "ADGRG6", "hgvs": [ "XM_006715518.2:c.2138T>A" ], "proteinEffect": { "hgvs": "XP_006715581.1:p.Leu713Ter", "hgvsWellDefined": "XP_006715581.1:p.Leu713_Phe1223delinsValArgArgAlaGlnPheThrPhePheAsnLysThrGlyLeuPheGlnAspValGlyProGlnArgLysThrLeuValSerTyrValMetAlaCysSerIleGlyAsnIleThrIleGlnAsnLeuLysAspProValGlnIleLysIleLysHisThrArgThrGlnGluValHisHisProIleCysAlaPheTrpAspLeuAsnLysAsnLysSerPheGlyGlyTrpAsnThrSerGlyCysValAlaHisArgAspSerAspAlaSerGluThrValCysLeuCysAsnHisPheThrHisPheGlyValLeuMetAspLeuProArgSerAlaSerGlnLeuAspAlaArgAsnThrLysValLeuThrPheIleSerTyrIleGlyCysGlyIleSerAlaIlePheSerAlaAlaThrLeuLeuThrTyrValAlaPheGluLysLeuArgArgAspTyrProSerLysIleLeuMetAsnLeuSerThrAlaLeuLeuPheLeuAsnLeuLeuPheLeuLeuAspGlyTrpIleThrSerPheAsnValAspGlyLeuCysIleAlaValAlaValLeuLeuHisPhePheLeuLeuAlaThrPheThrTrpMetGlyLeuGluAlaIleHisMetTyrIleAlaLeuValLysValPheAsnThrTyrIleArgArgTyrIleLeuLysPheCysIleIleGlyTrpGlyLeuProAlaLeuValValSerValValLeuAlaSerArgAsnAsnAsnGluValTyrGlyLysGluSerTyrGlyLysGluLysGlyAspGluPheCysTrpIleGlnAspProValIlePheTyrValThrCysAlaGlyTyrPheGlyValMetPhePheLeuAsnIleAlaMetPheIleValValMetValGlnIleCysGlyArgAsnGlyLysArgSerAsnArgThrLeuArgGluGluValLeuArgAsnLeuArgSerValValSerLeuThrPheLeuLeuGlyMetThrTrpGlyPheAlaPhePheAlaTrpGlyProLeuAsnIleProPheMetTyrLeuPheSerIlePheAsnSerLeuGlnGlyLeuPheIlePheIlePheHisCysAlaMetLysGluAsnValGlnLysGlnTrpArgGlnHisLeuCysCysGlyArgPheArgLeuAlaAspAsnSerAspTrpSerLysThrAlaThrAsnIleIleLysLysSerSerAspAsnLeuGlyLysSerLeuSerSerSerSerIleGlySerAsnSerThrTyrLeuThrSerLysSerLysSerSerSerThrThrTyrPheLysArgAsnSerHisThrAspSerAlaSerMetAspLysSerLeuSerLysLeuAlaHisAlaAspGlyAspGlnThrSerIleIleProValHisGlnValIleAspLysValLysGlyTyrCysAsnAlaHisSerAspAsnPheTyrLysAsnIleIleMetSerAspThrPheSerHisSerThrLysPheTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS071200" }, { "coordinates": [ { "allele": "A", "end": 2334, "referenceAllele": "T", "start": 2333 } ], "gene": "http://reg.genome.network/gene/GN013841", "geneNCBI_id": 57211, "geneSymbol": "ADGRG6", "hgvs": [ "XM_011535964.1:c.2219T>A" ], "proteinEffect": { "hgvs": "XP_011534266.1:p.Leu740Ter", "hgvsWellDefined": "XP_011534266.1:p.Leu740_Phe1250delinsValArgArgAlaGlnPheThrPhePheAsnLysThrGlyLeuPheGlnAspValGlyProGlnArgLysThrLeuValSerTyrValMetAlaCysSerIleGlyAsnIleThrIleGlnAsnLeuLysAspProValGlnIleLysIleLysHisThrArgThrGlnGluValHisHisProIleCysAlaPheTrpAspLeuAsnLysAsnLysSerPheGlyGlyTrpAsnThrSerGlyCysValAlaHisArgAspSerAspAlaSerGluThrValCysLeuCysAsnHisPheThrHisPheGlyValLeuMetAspLeuProArgSerAlaSerGlnLeuAspAlaArgAsnThrLysValLeuThrPheIleSerTyrIleGlyCysGlyIleSerAlaIlePheSerAlaAlaThrLeuLeuThrTyrValAlaPheGluLysLeuArgArgAspTyrProSerLysIleLeuMetAsnLeuSerThrAlaLeuLeuPheLeuAsnLeuLeuPheLeuLeuAspGlyTrpIleThrSerPheAsnValAspGlyLeuCysIleAlaValAlaValLeuLeuHisPhePheLeuLeuAlaThrPheThrTrpMetGlyLeuGluAlaIleHisMetTyrIleAlaLeuValLysValPheAsnThrTyrIleArgArgTyrIleLeuLysPheCysIleIleGlyTrpGlyLeuProAlaLeuValValSerValValLeuAlaSerArgAsnAsnAsnGluValTyrGlyLysGluSerTyrGlyLysGluLysGlyAspGluPheCysTrpIleGlnAspProValIlePheTyrValThrCysAlaGlyTyrPheGlyValMetPhePheLeuAsnIleAlaMetPheIleValValMetValGlnIleCysGlyArgAsnGlyLysArgSerAsnArgThrLeuArgGluGluValLeuArgAsnLeuArgSerValValSerLeuThrPheLeuLeuGlyMetThrTrpGlyPheAlaPhePheAlaTrpGlyProLeuAsnIleProPheMetTyrLeuPheSerIlePheAsnSerLeuGlnGlyLeuPheIlePheIlePheHisCysAlaMetLysGluAsnValGlnLysGlnTrpArgGlnHisLeuCysCysGlyArgPheArgLeuAlaAspAsnSerAspTrpSerLysThrAlaThrAsnIleIleLysLysSerSerAspAsnLeuGlyLysSerLeuSerSerSerSerIleGlySerAsnSerThrTyrLeuThrSerLysSerLysSerSerSerThrThrTyrPheLysArgAsnSerHisThrAspSerAlaSerMetAspLysSerLeuSerLysLeuAlaHisAlaAspGlyAspGlnThrSerIleIleProValHisGlnValIleAspLysValLysGlyTyrCysAsnAlaHisSerAspAsnPheTyrLysAsnIleIleMetSerAspThrPheSerHisSerThrLysPheTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS102966" }, { "coordinates": [ { "allele": "A", "end": 2531, "referenceAllele": "T", "start": 2530 } ], "gene": "http://reg.genome.network/gene/GN013841", "geneNCBI_id": 57211, "geneSymbol": "ADGRG6", "hgvs": [ "XM_005267061.3:c.2222T>A" ], "proteinEffect": { "hgvs": "XP_005267118.1:p.Leu741Ter", "hgvsWellDefined": "XP_005267118.1:p.Leu741_Cys1222delinsValArgArgAlaGlnPheThrPhePheAsnLysThrGlyLeuPheGlnAspValGlyProGlnArgLysThrLeuValSerTyrValMetAlaCysSerIleGlyAsnIleThrIleGlnAsnLeuLysAspProValGlnIleLysIleLysHisThrArgThrGlnGluValHisHisProIleCysAlaPheTrpAspLeuAsnLysAsnLysSerPheGlyGlyTrpAsnThrSerGlyCysValAlaHisArgAspSerAspAlaSerGluThrValCysLeuCysAsnHisPheThrHisPheGlyValLeuMetAspLeuProArgSerAlaSerGlnLeuAspAlaArgAsnThrLysValLeuThrPheIleSerTyrIleGlyCysGlyIleSerAlaIlePheSerAlaAlaThrLeuLeuThrTyrValAlaPheGluLysLeuArgArgAspTyrProSerLysIleLeuMetAsnLeuSerThrAlaLeuLeuPheLeuAsnLeuLeuPheLeuLeuAspGlyTrpIleThrSerPheAsnValAspGlyLeuCysIleAlaValAlaValLeuLeuHisPhePheLeuLeuAlaThrPheThrTrpMetGlyLeuGluAlaIleHisMetTyrIleAlaLeuValLysValPheAsnThrTyrIleArgArgTyrIleLeuLysPheCysIleIleGlyTrpGlyLeuProAlaLeuValValSerValValLeuAlaSerArgAsnAsnAsnGluValTyrGlyLysGluSerTyrGlyLysGluLysGlyAspGluPheCysTrpIleGlnAspProValIlePheTyrValThrCysAlaGlyTyrPheGlyValMetPhePheLeuAsnIleAlaMetPheIleValValMetValGlnIleCysGlyArgAsnGlyLysArgSerAsnArgThrLeuArgGluGluValLeuArgAsnLeuArgSerValValSerLeuThrPheLeuLeuGlyMetThrTrpGlyPheAlaPhePheAlaTrpGlyProLeuAsnIleProPheMetTyrLeuPheSerIlePheAsnSerLeuGlnGlyLeuPheIlePheIlePheHisCysAlaMetLysGluAsnValGlnLysGlnTrpArgGlnHisLeuCysCysGlyArgPheArgLeuAlaAspAsnSerAspTrpSerLysThrAlaThrAsnIleIleLysLysSerSerAspAsnLeuGlyLysSerLeuSerSerSerSerIleGlySerAsnSerThrTyrLeuThrSerLysSerLysSerSerSerThrThrTyrPheLysArgAsnSerHisThrAspAsnValSerTyrGluHisSerPheAsnLysSerGlySerLeuArgGlnCysPheHisGlyGlnValLeuValLysThrGlyProCysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS536349" }, { "coordinates": [ { "allele": "A", "end": 2531, "referenceAllele": "T", "start": 2530 } ], "gene": "http://reg.genome.network/gene/GN013841", "geneNCBI_id": 57211, "geneSymbol": "ADGRG6", "hgvs": [ "XM_017011085.1:c.2222T>A" ], "proteinEffect": { "hgvs": "XP_016866574.1:p.Leu741Ter", "hgvsWellDefined": "XP_016866574.1:p.Leu741_Cys1116delinsValArgArgAlaGlnPheThrPhePheAsnLysThrGlyLeuPheGlnAspValGlyProGlnArgLysThrLeuValSerTyrValMetAlaCysSerIleGlyAsnIleThrIleGlnAsnLeuLysAspProValGlnIleLysIleLysHisThrArgThrGlnGluValHisHisProIleCysAlaPheTrpAspLeuAsnLysAsnLysSerPheGlyGlyTrpAsnThrSerGlyCysValAlaHisArgAspSerAspAlaSerGluThrValCysLeuCysAsnHisPheThrHisPheGlyValLeuMetAspLeuProArgSerAlaSerGlnLeuAspAlaArgAsnThrLysValLeuThrPheIleSerTyrIleGlyCysGlyIleSerAlaIlePheSerAlaAlaThrLeuLeuThrTyrValAlaPheGluLysLeuArgArgAspTyrProSerLysIleLeuMetAsnLeuSerThrAlaLeuLeuPheLeuAsnLeuLeuPheLeuLeuAspGlyTrpIleThrSerPheAsnValAspGlyLeuCysIleAlaValAlaValLeuLeuHisPhePheLeuLeuAlaThrPheThrTrpMetGlyLeuGluAlaIleHisMetTyrIleAlaLeuValLysValPheAsnThrTyrIleArgArgTyrIleLeuLysPheCysIleIleGlyTrpGlyLeuProAlaLeuValValSerValValLeuAlaSerArgAsnAsnAsnGluValTyrGlyLysGluSerTyrGlyLysGluLysGlyAspGluPheCysTrpIleGlnAspProValIlePheTyrValThrCysAlaGlyTyrPheGlyValMetPhePheLeuAsnIleAlaMetPheIleValValMetValGlnIleCysGlyArgAsnGlyLysArgSerAsnArgThrLeuArgGluGluValLeuArgAsnLeuArgSerValValSerLeuThrPheLeuLeuGlyMetThrTrpGlyPheAlaPhePheAlaTrpGlyProLeuAsnIleProPheMetTyrLeuPheSerIlePheAsnSerLeuGlnValValAspValTrpGlyArgAsnCysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS565016" }, { "@id": "http://reg.genome.network/allele/PA2573101162", "coordinates": [ { "allele": "A", "end": 2542, "referenceAllele": "T", "start": 2541 } ], "gene": "http://reg.genome.network/gene/GN013841", "geneNCBI_id": 57211, "geneSymbol": "ADGRG6", "hgvs": [ "NM_198569.3:c.2219T>A" ], "proteinEffect": { "hgvs": "NP_940971.2:p.Leu740Ter", "hgvsWellDefined": "NP_940971.2:p.Leu740_Phe1250delinsValArgArgAlaGlnPheThrPhePheAsnLysThrGlyLeuPheGlnAspValGlyProGlnArgLysThrLeuValSerTyrValMetAlaCysSerIleGlyAsnIleThrIleGlnAsnLeuLysAspProValGlnIleLysIleLysHisThrArgThrGlnGluValHisHisProIleCysAlaPheTrpAspLeuAsnLysAsnLysSerPheGlyGlyTrpAsnThrSerGlyCysValAlaHisArgAspSerAspAlaSerGluThrValCysLeuCysAsnHisPheThrHisPheGlyValLeuMetAspLeuProArgSerAlaSerGlnLeuAspAlaArgAsnThrLysValLeuThrPheIleSerTyrIleGlyCysGlyIleSerAlaIlePheSerAlaAlaThrLeuLeuThrTyrValAlaPheGluLysLeuArgArgAspTyrProSerLysIleLeuMetAsnLeuSerThrAlaLeuLeuPheLeuAsnLeuLeuPheLeuLeuAspGlyTrpIleThrSerPheAsnValAspGlyLeuCysIleAlaValAlaValLeuLeuHisPhePheLeuLeuAlaThrPheThrTrpMetGlyLeuGluAlaIleHisMetTyrIleAlaLeuValLysValPheAsnThrTyrIleArgArgTyrIleLeuLysPheCysIleIleGlyTrpGlyLeuProAlaLeuValValSerValValLeuAlaSerArgAsnAsnAsnGluValTyrGlyLysGluSerTyrGlyLysGluLysGlyAspGluPheCysTrpIleGlnAspProValIlePheTyrValThrCysAlaGlyTyrPheGlyValMetPhePheLeuAsnIleAlaMetPheIleValValMetValGlnIleCysGlyArgAsnGlyLysArgSerAsnArgThrLeuArgGluGluValLeuArgAsnLeuArgSerValValSerLeuThrPheLeuLeuGlyMetThrTrpGlyPheAlaPhePheAlaTrpGlyProLeuAsnIleProPheMetTyrLeuPheSerIlePheAsnSerLeuGlnGlyLeuPheIlePheIlePheHisCysAlaMetLysGluAsnValGlnLysGlnTrpArgGlnHisLeuCysCysGlyArgPheArgLeuAlaAspAsnSerAspTrpSerLysThrAlaThrAsnIleIleLysLysSerSerAspAsnLeuGlyLysSerLeuSerSerSerSerIleGlySerAsnSerThrTyrLeuThrSerLysSerLysSerSerSerThrThrTyrPheLysArgAsnSerHisThrAspSerAlaSerMetAspLysSerLeuSerLysLeuAlaHisAlaAspGlyAspGlnThrSerIleIleProValHisGlnValIleAspLysValLysGlyTyrCysAsnAlaHisSerAspAsnPheTyrLysAsnIleIleMetSerAspThrPheSerHisSerThrLysPheTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS701372", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000367609.8:c.2219T>A" }, "RefSeq": { "hgvs": "NM_198569.3:c.2219T>A" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000356581.3:p.Leu740Ter" }, "RefSeq": { "hgvs": "NP_940971.2:p.Leu740Ter" } } } }, { "@id": "http://reg.genome.network/allele/PA2825365329", "coordinates": [ { "allele": "A", "end": 2458, "referenceAllele": "T", "start": 2457 } ], "gene": "http://reg.genome.network/gene/GN013841", "geneNCBI_id": 57211, "geneSymbol": "ADGRG6", "hgvs": [ "NM_001032394.3:c.2135T>A" ], "proteinEffect": { "hgvs": "NP_001027566.2:p.Leu712Ter", "hgvsWellDefined": "NP_001027566.2:p.Leu712_Cys1193delinsValArgArgAlaGlnPheThrPhePheAsnLysThrGlyLeuPheGlnAspValGlyProGlnArgLysThrLeuValSerTyrValMetAlaCysSerIleGlyAsnIleThrIleGlnAsnLeuLysAspProValGlnIleLysIleLysHisThrArgThrGlnGluValHisHisProIleCysAlaPheTrpAspLeuAsnLysAsnLysSerPheGlyGlyTrpAsnThrSerGlyCysValAlaHisArgAspSerAspAlaSerGluThrValCysLeuCysAsnHisPheThrHisPheGlyValLeuMetAspLeuProArgSerAlaSerGlnLeuAspAlaArgAsnThrLysValLeuThrPheIleSerTyrIleGlyCysGlyIleSerAlaIlePheSerAlaAlaThrLeuLeuThrTyrValAlaPheGluLysLeuArgArgAspTyrProSerLysIleLeuMetAsnLeuSerThrAlaLeuLeuPheLeuAsnLeuLeuPheLeuLeuAspGlyTrpIleThrSerPheAsnValAspGlyLeuCysIleAlaValAlaValLeuLeuHisPhePheLeuLeuAlaThrPheThrTrpMetGlyLeuGluAlaIleHisMetTyrIleAlaLeuValLysValPheAsnThrTyrIleArgArgTyrIleLeuLysPheCysIleIleGlyTrpGlyLeuProAlaLeuValValSerValValLeuAlaSerArgAsnAsnAsnGluValTyrGlyLysGluSerTyrGlyLysGluLysGlyAspGluPheCysTrpIleGlnAspProValIlePheTyrValThrCysAlaGlyTyrPheGlyValMetPhePheLeuAsnIleAlaMetPheIleValValMetValGlnIleCysGlyArgAsnGlyLysArgSerAsnArgThrLeuArgGluGluValLeuArgAsnLeuArgSerValValSerLeuThrPheLeuLeuGlyMetThrTrpGlyPheAlaPhePheAlaTrpGlyProLeuAsnIleProPheMetTyrLeuPheSerIlePheAsnSerLeuGlnGlyLeuPheIlePheIlePheHisCysAlaMetLysGluAsnValGlnLysGlnTrpArgGlnHisLeuCysCysGlyArgPheArgLeuAlaAspAsnSerAspTrpSerLysThrAlaThrAsnIleIleLysLysSerSerAspAsnLeuGlyLysSerLeuSerSerSerSerIleGlySerAsnSerThrTyrLeuThrSerLysSerLysSerSerSerThrThrTyrPheLysArgAsnSerHisThrAspAsnValSerTyrGluHisSerPheAsnLysSerGlySerLeuArgGlnCysPheHisGlyGlnValLeuValLysThrGlyProCysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS711511" }, { "@id": "http://reg.genome.network/allele/PA2825365482", "coordinates": [ { "allele": "A", "end": 2458, "referenceAllele": "T", "start": 2457 } ], "gene": "http://reg.genome.network/gene/GN013841", "geneNCBI_id": 57211, "geneSymbol": "ADGRG6", "hgvs": [ "NM_001032395.3:c.2135T>A" ], "proteinEffect": { "hgvs": "NP_001027567.2:p.Leu712Ter", "hgvsWellDefined": "NP_001027567.2:p.Leu712_Phe1222delinsValArgArgAlaGlnPheThrPhePheAsnLysThrGlyLeuPheGlnAspValGlyProGlnArgLysThrLeuValSerTyrValMetAlaCysSerIleGlyAsnIleThrIleGlnAsnLeuLysAspProValGlnIleLysIleLysHisThrArgThrGlnGluValHisHisProIleCysAlaPheTrpAspLeuAsnLysAsnLysSerPheGlyGlyTrpAsnThrSerGlyCysValAlaHisArgAspSerAspAlaSerGluThrValCysLeuCysAsnHisPheThrHisPheGlyValLeuMetAspLeuProArgSerAlaSerGlnLeuAspAlaArgAsnThrLysValLeuThrPheIleSerTyrIleGlyCysGlyIleSerAlaIlePheSerAlaAlaThrLeuLeuThrTyrValAlaPheGluLysLeuArgArgAspTyrProSerLysIleLeuMetAsnLeuSerThrAlaLeuLeuPheLeuAsnLeuLeuPheLeuLeuAspGlyTrpIleThrSerPheAsnValAspGlyLeuCysIleAlaValAlaValLeuLeuHisPhePheLeuLeuAlaThrPheThrTrpMetGlyLeuGluAlaIleHisMetTyrIleAlaLeuValLysValPheAsnThrTyrIleArgArgTyrIleLeuLysPheCysIleIleGlyTrpGlyLeuProAlaLeuValValSerValValLeuAlaSerArgAsnAsnAsnGluValTyrGlyLysGluSerTyrGlyLysGluLysGlyAspGluPheCysTrpIleGlnAspProValIlePheTyrValThrCysAlaGlyTyrPheGlyValMetPhePheLeuAsnIleAlaMetPheIleValValMetValGlnIleCysGlyArgAsnGlyLysArgSerAsnArgThrLeuArgGluGluValLeuArgAsnLeuArgSerValValSerLeuThrPheLeuLeuGlyMetThrTrpGlyPheAlaPhePheAlaTrpGlyProLeuAsnIleProPheMetTyrLeuPheSerIlePheAsnSerLeuGlnGlyLeuPheIlePheIlePheHisCysAlaMetLysGluAsnValGlnLysGlnTrpArgGlnHisLeuCysCysGlyArgPheArgLeuAlaAspAsnSerAspTrpSerLysThrAlaThrAsnIleIleLysLysSerSerAspAsnLeuGlyLysSerLeuSerSerSerSerIleGlySerAsnSerThrTyrLeuThrSerLysSerLysSerSerSerThrThrTyrPheLysArgAsnSerHisThrAspSerAlaSerMetAspLysSerLeuSerLysLeuAlaHisAlaAspGlyAspGlnThrSerIleIleProValHisGlnValIleAspLysValLysGlyTyrCysAsnAlaHisSerAspAsnPheTyrLysAsnIleIleMetSerAspThrPheSerHisSerThrLysPheTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS711512" }, { "@id": "http://reg.genome.network/allele/PA2829939725", "coordinates": [ { "allele": "A", "end": 2542, "referenceAllele": "T", "start": 2541 } ], "gene": "http://reg.genome.network/gene/GN013841", "geneNCBI_id": 57211, "geneSymbol": "ADGRG6", "hgvs": [ "NM_020455.6:c.2219T>A" ], "proteinEffect": { "hgvs": "NP_065188.5:p.Leu740Ter", "hgvsWellDefined": "NP_065188.5:p.Leu740_Cys1221delinsValArgArgAlaGlnPheThrPhePheAsnLysThrGlyLeuPheGlnAspValGlyProGlnArgLysThrLeuValSerTyrValMetAlaCysSerIleGlyAsnIleThrIleGlnAsnLeuLysAspProValGlnIleLysIleLysHisThrArgThrGlnGluValHisHisProIleCysAlaPheTrpAspLeuAsnLysAsnLysSerPheGlyGlyTrpAsnThrSerGlyCysValAlaHisArgAspSerAspAlaSerGluThrValCysLeuCysAsnHisPheThrHisPheGlyValLeuMetAspLeuProArgSerAlaSerGlnLeuAspAlaArgAsnThrLysValLeuThrPheIleSerTyrIleGlyCysGlyIleSerAlaIlePheSerAlaAlaThrLeuLeuThrTyrValAlaPheGluLysLeuArgArgAspTyrProSerLysIleLeuMetAsnLeuSerThrAlaLeuLeuPheLeuAsnLeuLeuPheLeuLeuAspGlyTrpIleThrSerPheAsnValAspGlyLeuCysIleAlaValAlaValLeuLeuHisPhePheLeuLeuAlaThrPheThrTrpMetGlyLeuGluAlaIleHisMetTyrIleAlaLeuValLysValPheAsnThrTyrIleArgArgTyrIleLeuLysPheCysIleIleGlyTrpGlyLeuProAlaLeuValValSerValValLeuAlaSerArgAsnAsnAsnGluValTyrGlyLysGluSerTyrGlyLysGluLysGlyAspGluPheCysTrpIleGlnAspProValIlePheTyrValThrCysAlaGlyTyrPheGlyValMetPhePheLeuAsnIleAlaMetPheIleValValMetValGlnIleCysGlyArgAsnGlyLysArgSerAsnArgThrLeuArgGluGluValLeuArgAsnLeuArgSerValValSerLeuThrPheLeuLeuGlyMetThrTrpGlyPheAlaPhePheAlaTrpGlyProLeuAsnIleProPheMetTyrLeuPheSerIlePheAsnSerLeuGlnGlyLeuPheIlePheIlePheHisCysAlaMetLysGluAsnValGlnLysGlnTrpArgGlnHisLeuCysCysGlyArgPheArgLeuAlaAspAsnSerAspTrpSerLysThrAlaThrAsnIleIleLysLysSerSerAspAsnLeuGlyLysSerLeuSerSerSerSerIleGlySerAsnSerThrTyrLeuThrSerLysSerLysSerSerSerThrThrTyrPheLysArgAsnSerHisThrAspAsnValSerTyrGluHisSerPheAsnLysSerGlySerLeuArgGlnCysPheHisGlyGlnValLeuValLysThrGlyProCysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS728437" } ], "type": "nucleotide" }