{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA353560319", "communityStandardTitle": [ "NM_001354604.2(MITF):c.387C>A (p.Tyr129Ter)" ], "externalRecords": { "ClinVarAlleles": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=1517475[alleleid]", "alleleId": 1517475, "preferredName": "NM_001354604.2(MITF):c.387C>A (p.Tyr129Ter)" } ], "ClinVarVariations": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/1526071", "RCV": [ "RCV002052091" ], "variationId": 1526071 } ], "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chr3:g.69987005C>A?assembly=hg19", "id": "chr3:g.69987005C>A" } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chr3:g.69937854C>A?assembly=hg38", "id": "chr3:g.69937854C>A" } ], "dbSNP": [ { "@id": "http://www.ncbi.nlm.nih.gov/snp/2107478777", "rs": 2107478777 } ] }, "genomicAlleles": [ { "chromosome": "3", "coordinates": [ { "allele": "A", "end": 69937854, 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"transcriptAlleles": [ { "coordinates": [ { "allele": "A", "end": 406, "referenceAllele": "C", "start": 405 } ], "gene": "http://reg.genome.network/gene/GN007105", "geneNCBI_id": 4286, "geneSymbol": "MITF", "hgvs": [ "ENST00000314589.11:c.339C>A" ], "proteinEffect": { "hgvs": "ENSP00000324443.5:p.Tyr113Ter", "hgvsWellDefined": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS904376" }, { "coordinates": [ { "allele": "A", "end": 658, "referenceAllele": "C", "start": 657 } ], "gene": "http://reg.genome.network/gene/GN007105", "geneNCBI_id": 4286, "geneSymbol": "MITF", "hgvs": [ "ENST00000687384.1:c.336C>A" ], "proteinEffect": { "hgvs": "ENSP00000510225.1:p.Tyr112Ter", "hgvsWellDefined": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS831059" }, { "coordinates": [ { "allele": "A", "end": 561, "referenceAllele": "C", "start": 560 } ], "gene": "http://reg.genome.network/gene/GN007105", "geneNCBI_id": 4286, "geneSymbol": "MITF", "hgvs": [ "ENST00000689390.1:n.561C>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS832144" }, { "coordinates": [ { "allele": "A", "end": 525, "referenceAllele": "C", "start": 524 } ], "gene": "http://reg.genome.network/gene/GN007105", "geneNCBI_id": 4286, "geneSymbol": "MITF", "hgvs": [ "ENST00000693031.1:c.387C>A" ], "proteinEffect": { "hgvs": "ENSP00000509845.1:p.Tyr129Ter", "hgvsWellDefined": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS834028" }, { "coordinates": [ { "allele": "A", "end": 363, "referenceAllele": "C", "start": 362 } ], "gene": "http://reg.genome.network/gene/GN007105", "geneNCBI_id": 4286, "geneSymbol": "MITF", "hgvs": [ "ENST00000693549.1:c.339C>A" ], "proteinEffect": { "hgvs": "ENSP00000509358.1:p.Tyr113Ter", "hgvsWellDefined": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS745938" }, { "coordinates": [ { "allele": "A", "end": 521, "referenceAllele": "C", "start": 520 } ], "gene": "http://reg.genome.network/gene/GN007105", "geneNCBI_id": 4286, "geneSymbol": "MITF", "hgvs": [ "ENST00000352241.9:c.387C>A" ], "proteinEffect": { "hgvs": "ENSP00000295600.8:p.Tyr129Ter", "hgvsWellDefined": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS748483", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000352241.9:c.387C>A" }, "RefSeq": { "hgvs": "NM_001354604.2:c.387C>A" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000295600.8:p.Tyr129Ter" }, "RefSeq": { "hgvs": "NP_001341533.1:p.Tyr129Ter" } } } }, { "coordinates": [ { "allele": "A", "end": 197, "referenceAllele": "C", "start": 196 } ], "gene": "http://reg.genome.network/gene/GN007105", "geneNCBI_id": 4286, "geneSymbol": "MITF", "hgvs": [ "ENST00000394351.9:c.66C>A" ], "proteinEffect": { "hgvs": "ENSP00000377880.3:p.Tyr22Ter", "hgvsWellDefined": "ENSP00000377880.3:p.Tyr22_Cys419delinsHisIleGlnGlnAlaGlnArgGlnGlnValLysGlnTyrLeuSerThrThrLeuAlaAsnLysHisAlaAsnGlnValLeuSerLeuProCysProAsnGlnProGlyAspHisValMetProProValProGlySerSerAlaProAsnSerProMetAlaMetLeuThrLeuAsnSerAsnCysGluLysGluGlyPheTyrLysPheGluGluGlnAsnArgAlaGluSerGluCysProGlyMetAsnThrHisSerArgAlaSerCysMetGlnMetAspAspValIleAspAspIleIleSerLeuGluSerSerTyrAsnGluGluIleLeuGlyLeuMetAspProAlaLeuGlnMetAlaAsnThrLeuProValSerGlyAsnLeuIleAspLeuTyrGlyAsnGlnGlyLeuProProProGlyLeuThrIleSerAsnSerCysProAlaAsnLeuProAsnIleLysArgGluLeuThrAlaCysIlePheProThrGluSerGluAlaArgAlaLeuAlaLysGluArgGlnLysLysAspAsnHisAsnLeuIleGluArgArgArgArgPheAsnIleAsnAspArgIleLysGluLeuGlyThrLeuIleProLysSerAsnAspProAspMetArgTrpAsnLysGlyThrIleLeuLysAlaSerValAspTyrIleArgLysLeuGlnArgGluGlnGlnArgAlaLysGluLeuGluAsnArgGlnLysLysLeuGluHisAlaAsnArgHisLeuLeuLeuArgIleGlnGluLeuGluMetGlnAlaArgAlaHisGlyLeuSerLeuIleProSerThrGlyLeuCysSerProAspLeuValAsnArgIleIleLysGlnGluProValLeuGluAsnCysSerGlnAspLeuLeuGlnHisHisAlaAspLeuThrCysThrThrThrLeuAspLeuThrAspGlyThrIleThrPheAsnAsnAsnLeuGlyThrGlyThrGluAlaAsnGlnAlaTyrSerValProThrLysMetGlySerLysLeuGluAspIleLeuMetAspAspThrLeuSerProValGlyValThrAspProLeuLeuSerSerValSerProGlyAlaSerLysThrSerSerArgArgSerSerMetSerMetGluGluThrGluHisThrCysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS753248", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Plus Clinical", "nucleotide": { "Ensembl": { "hgvs": "ENST00000394351.9:c.66C>A" }, "RefSeq": { "hgvs": "NM_000248.4:c.66C>A" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000377880.3:p.Tyr22Ter" }, "RefSeq": { "hgvs": "NP_000239.1:p.Tyr22Ter" } } } }, { "coordinates": [ { "allele": "A", "end": 415, "referenceAllele": "C", "start": 414 } ], "gene": "http://reg.genome.network/gene/GN007105", "geneNCBI_id": 4286, "geneSymbol": "MITF", "hgvs": [ "ENST00000448226.9:c.384C>A" ], "proteinEffect": { "hgvs": "ENSP00000391803.3:p.Tyr128Ter", "hgvsWellDefined": "ENSP00000391803.3:p.Tyr128_Cys519delinsHisIleGlnGlnAlaGlnArgGlnGlnValLysGlnTyrLeuSerThrThrLeuAlaAsnLysHisAlaAsnGlnValLeuSerLeuProCysProAsnGlnProGlyAspHisValMetProProValProGlySerSerAlaProAsnSerProMetAlaMetLeuThrLeuAsnSerAsnCysGluLysGluGlyPheTyrLysPheGluGluGlnAsnArgAlaGluSerGluCysProGlyMetAsnThrHisSerArgAlaSerCysMetGlnMetAspAspValIleAspAspIleIleSerLeuGluSerSerTyrAsnGluGluIleLeuGlyLeuMetAspProAlaLeuGlnMetAlaAsnThrLeuProValSerGlyAsnLeuIleAspLeuTyrGlyAsnGlnGlyLeuProProProGlyLeuThrIleSerAsnSerCysProAlaAsnLeuProAsnIleLysArgGluLeuThrGluSerGluAlaArgAlaLeuAlaLysGluArgGlnLysLysAspAsnHisAsnLeuIleGluArgArgArgArgPheAsnIleAsnAspArgIleLysGluLeuGlyThrLeuIleProLysSerAsnAspProAspMetArgTrpAsnLysGlyThrIleLeuLysAlaSerValAspTyrIleArgLysLeuGlnArgGluGlnGlnArgAlaLysGluLeuGluAsnArgGlnLysLysLeuGluHisAlaAsnArgHisLeuLeuLeuArgIleGlnGluLeuGluMetGlnAlaArgAlaHisGlyLeuSerLeuIleProSerThrGlyLeuCysSerProAspLeuValAsnArgIleIleLysGlnGluProValLeuGluAsnCysSerGlnAspLeuLeuGlnHisHisAlaAspLeuThrCysThrThrThrLeuAspLeuThrAspGlyThrIleThrPheAsnAsnAsnLeuGlyThrGlyThrGluAlaAsnGlnAlaTyrSerValProThrLysMetGlySerLysLeuGluAspIleLeuMetAspAspThrLeuSerProValGlyValThrAspProLeuLeuSerSerValSerProGlyAlaSerLysThrSerSerArgArgSerSerMetSerMetGluGluThrGluHisThrCysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS756165" }, { "coordinates": [ { "allele": "A", "end": 503, "referenceAllele": "C", "start": 502 } ], "gene": "http://reg.genome.network/gene/GN007105", "geneNCBI_id": 4286, "geneSymbol": "MITF", "hgvs": [ "ENST00000642352.1:c.387C>A" ], "proteinEffect": { "hgvs": "ENSP00000494105.1:p.Tyr129Ter", "hgvsWellDefined": "ENSP00000494105.1:p.Tyr129_Cys520delinsHisIleGlnGlnAlaGlnArgGlnGlnValLysGlnTyrLeuSerThrThrLeuAlaAsnLysHisAlaAsnGlnValLeuSerLeuProCysProAsnGlnProGlyAspHisValMetProProValProGlySerSerAlaProAsnSerProMetAlaMetLeuThrLeuAsnSerAsnCysGluLysGluGlyPheTyrLysPheGluGluGlnAsnArgAlaGluSerGluCysProGlyMetAsnThrHisSerArgAlaSerCysMetGlnMetAspAspValIleAspAspIleIleSerLeuGluSerSerTyrAsnGluGluIleLeuGlyLeuMetAspProAlaLeuGlnMetAlaAsnThrLeuProValSerGlyAsnLeuIleAspLeuTyrGlyAsnGlnGlyLeuProProProGlyLeuThrIleSerAsnSerCysProAlaAsnLeuProAsnIleLysArgGluLeuThrGluSerGluAlaArgAlaLeuAlaLysGluArgGlnLysLysAspAsnHisAsnLeuIleGluArgArgArgArgPheAsnIleAsnAspArgIleLysGluLeuGlyThrLeuIleProLysSerAsnAspProAspMetArgTrpAsnLysGlyThrIleLeuLysAlaSerValAspTyrIleArgLysLeuGlnArgGluGlnGlnArgAlaLysGluLeuGluAsnArgGlnLysLysLeuGluHisAlaAsnArgHisLeuLeuLeuArgIleGlnGluLeuGluMetGlnAlaArgAlaHisGlyLeuSerLeuIleProSerThrGlyLeuCysSerProAspLeuValAsnArgIleIleLysGlnGluProValLeuGluAsnCysSerGlnAspLeuLeuGlnHisHisAlaAspLeuThrCysThrThrThrLeuAspLeuThrAspGlyThrIleThrPheAsnAsnAsnLeuGlyThrGlyThrGluAlaAsnGlnAlaTyrSerValProThrLysMetGlySerLysLeuGluAspIleLeuMetAspAspThrLeuSerProValGlyValThrAspProLeuLeuSerSerValSerProGlyAlaSerLysThrSerSerArgArgSerSerMetSerMetGluGluThrGluHisThrCysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS766693" }, { "coordinates": [ { "allele": "A", "end": 202, "referenceAllele": "C", "start": 201 } ], "gene": "http://reg.genome.network/gene/GN007105", "geneNCBI_id": 4286, "geneSymbol": "MITF", "hgvs": [ "ENST00000314557.10:c.66C>A" ], "proteinEffect": { "hgvs": "ENSP00000324246.6:p.Tyr22Ter", "hgvsWellDefined": "ENSP00000324246.6:p.Tyr22_Cys413delinsHisIleGlnGlnAlaGlnArgGlnGlnValLysGlnTyrLeuSerThrThrLeuAlaAsnLysHisAlaAsnGlnValLeuSerLeuProCysProAsnGlnProGlyAspHisValMetProProValProGlySerSerAlaProAsnSerProMetAlaMetLeuThrLeuAsnSerAsnCysGluLysGluGlyPheTyrLysPheGluGluGlnAsnArgAlaGluSerGluCysProGlyMetAsnThrHisSerArgAlaSerCysMetGlnMetAspAspValIleAspAspIleIleSerLeuGluSerSerTyrAsnGluGluIleLeuGlyLeuMetAspProAlaLeuGlnMetAlaAsnThrLeuProValSerGlyAsnLeuIleAspLeuTyrGlyAsnGlnGlyLeuProProProGlyLeuThrIleSerAsnSerCysProAlaAsnLeuProAsnIleLysArgGluLeuThrGluSerGluAlaArgAlaLeuAlaLysGluArgGlnLysLysAspAsnHisAsnLeuIleGluArgArgArgArgPheAsnIleAsnAspArgIleLysGluLeuGlyThrLeuIleProLysSerAsnAspProAspMetArgTrpAsnLysGlyThrIleLeuLysAlaSerValAspTyrIleArgLysLeuGlnArgGluGlnGlnArgAlaLysGluLeuGluAsnArgGlnLysLysLeuGluHisAlaAsnArgHisLeuLeuLeuArgIleGlnGluLeuGluMetGlnAlaArgAlaHisGlyLeuSerLeuIleProSerThrGlyLeuCysSerProAspLeuValAsnArgIleIleLysGlnGluProValLeuGluAsnCysSerGlnAspLeuLeuGlnHisHisAlaAspLeuThrCysThrThrThrLeuAspLeuThrAspGlyThrIleThrPheAsnAsnAsnLeuGlyThrGlyThrGluAlaAsnGlnAlaTyrSerValProThrLysMetGlySerLysLeuGluAspIleLeuMetAspAspThrLeuSerProValGlyValThrAspProLeuLeuSerSerValSerProGlyAlaSerLysThrSerSerArgArgSerSerMetSerMetGluGluThrGluHisThrCysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS256974" }, { "coordinates": [ { "allele": "A", "end": 418, "referenceAllele": "C", "start": 417 } ], "gene": "http://reg.genome.network/gene/GN007105", "geneNCBI_id": 4286, "geneSymbol": "MITF", "hgvs": [ "ENST00000314589.9:c.339C>A" ], "proteinEffect": { "hgvs": "ENSP00000324443.5:p.Tyr113Ter", "hgvsWellDefined": "ENSP00000324443.5:p.Tyr113_Cys504delinsHisIleGlnGlnAlaGlnArgGlnGlnValLysGlnTyrLeuSerThrThrLeuAlaAsnLysHisAlaAsnGlnValLeuSerLeuProCysProAsnGlnProGlyAspHisValMetProProValProGlySerSerAlaProAsnSerProMetAlaMetLeuThrLeuAsnSerAsnCysGluLysGluGlyPheTyrLysPheGluGluGlnAsnArgAlaGluSerGluCysProGlyMetAsnThrHisSerArgAlaSerCysMetGlnMetAspAspValIleAspAspIleIleSerLeuGluSerSerTyrAsnGluGluIleLeuGlyLeuMetAspProAlaLeuGlnMetAlaAsnThrLeuProValSerGlyAsnLeuIleAspLeuTyrGlyAsnGlnGlyLeuProProProGlyLeuThrIleSerAsnSerCysProAlaAsnLeuProAsnIleLysArgGluLeuThrGluSerGluAlaArgAlaLeuAlaLysGluArgGlnLysLysAspAsnHisAsnLeuIleGluArgArgArgArgPheAsnIleAsnAspArgIleLysGluLeuGlyThrLeuIleProLysSerAsnAspProAspMetArgTrpAsnLysGlyThrIleLeuLysAlaSerValAspTyrIleArgLysLeuGlnArgGluGlnGlnArgAlaLysGluLeuGluAsnArgGlnLysLysLeuGluHisAlaAsnArgHisLeuLeuLeuArgIleGlnGluLeuGluMetGlnAlaArgAlaHisGlyLeuSerLeuIleProSerThrGlyLeuCysSerProAspLeuValAsnArgIleIleLysGlnGluProValLeuGluAsnCysSerGlnAspLeuLeuGlnHisHisAlaAspLeuThrCysThrThrThrLeuAspLeuThrAspGlyThrIleThrPheAsnAsnAsnLeuGlyThrGlyThrGluAlaAsnGlnAlaTyrSerValProThrLysMetGlySerLysLeuGluAspIleLeuMetAspAspThrLeuSerProValGlyValThrAspProLeuLeuSerSerValSerProGlyAlaSerLysThrSerSerArgArgSerSerMetSerMetGluGluThrGluHisThrCysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS256980" }, { "coordinates": [ { "allele": "A", "end": 415, "referenceAllele": "C", "start": 414 } ], "gene": "http://reg.genome.network/gene/GN007105", "geneNCBI_id": 4286, "geneSymbol": "MITF", "hgvs": [ "ENST00000328528.10:c.384C>A" ], "proteinEffect": { "hgvs": "ENSP00000327867.6:p.Tyr128Ter", "hgvsWellDefined": "ENSP00000327867.6:p.Tyr128_Cys519delinsHisIleGlnGlnAlaGlnArgGlnGlnValLysGlnTyrLeuSerThrThrLeuAlaAsnLysHisAlaAsnGlnValLeuSerLeuProCysProAsnGlnProGlyAspHisValMetProProValProGlySerSerAlaProAsnSerProMetAlaMetLeuThrLeuAsnSerAsnCysGluLysGluGlyPheTyrLysPheGluGluGlnAsnArgAlaGluSerGluCysProGlyMetAsnThrHisSerArgAlaSerCysMetGlnMetAspAspValIleAspAspIleIleSerLeuGluSerSerTyrAsnGluGluIleLeuGlyLeuMetAspProAlaLeuGlnMetAlaAsnThrLeuProValSerGlyAsnLeuIleAspLeuTyrGlyAsnGlnGlyLeuProProProGlyLeuThrIleSerAsnSerCysProAlaAsnLeuProAsnIleLysArgGluLeuThrGluSerGluAlaArgAlaLeuAlaLysGluArgGlnLysLysAspAsnHisAsnLeuIleGluArgArgArgArgPheAsnIleAsnAspArgIleLysGluLeuGlyThrLeuIleProLysSerAsnAspProAspMetArgTrpAsnLysGlyThrIleLeuLysAlaSerValAspTyrIleArgLysLeuGlnArgGluGlnGlnArgAlaLysGluLeuGluAsnArgGlnLysLysLeuGluHisAlaAsnArgHisLeuLeuLeuArgIleGlnGluLeuGluMetGlnAlaArgAlaHisGlyLeuSerLeuIleProSerThrGlyLeuCysSerProAspLeuValAsnArgIleIleLysGlnGluProValLeuGluAsnCysSerGlnAspLeuLeuGlnHisHisAlaAspLeuThrCysThrThrThrLeuAspLeuThrAspGlyThrIleThrPheAsnAsnAsnLeuGlyThrGlyThrGluAlaAsnGlnAlaTyrSerValProThrLysMetGlySerLysLeuGluAspIleLeuMetAspAspThrLeuSerProValGlyValThrAspProLeuLeuSerSerValSerProGlyAlaSerLysThrSerSerArgArgSerSerMetSerMetGluGluThrGluHisThrCysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS258925" }, { "coordinates": [ { "allele": "A", "end": 550, "referenceAllele": "C", "start": 549 } ], "gene": "http://reg.genome.network/gene/GN007105", "geneNCBI_id": 4286, "geneSymbol": "MITF", "hgvs": [ "ENST00000352241.8:c.387C>A" ], "proteinEffect": { "hgvs": "ENSP00000295600.7:p.Tyr129Ter", "hgvsWellDefined": "ENSP00000295600.7:p.Tyr129_Cys520delinsHisIleGlnGlnAlaGlnArgGlnGlnValLysGlnTyrLeuSerThrThrLeuAlaAsnLysHisAlaAsnGlnValLeuSerLeuProCysProAsnGlnProGlyAspHisValMetProProValProGlySerSerAlaProAsnSerProMetAlaMetLeuThrLeuAsnSerAsnCysGluLysGluGlyPheTyrLysPheGluGluGlnAsnArgAlaGluSerGluCysProGlyMetAsnThrHisSerArgAlaSerCysMetGlnMetAspAspValIleAspAspIleIleSerLeuGluSerSerTyrAsnGluGluIleLeuGlyLeuMetAspProAlaLeuGlnMetAlaAsnThrLeuProValSerGlyAsnLeuIleAspLeuTyrGlyAsnGlnGlyLeuProProProGlyLeuThrIleSerAsnSerCysProAlaAsnLeuProAsnIleLysArgGluLeuThrGluSerGluAlaArgAlaLeuAlaLysGluArgGlnLysLysAspAsnHisAsnLeuIleGluArgArgArgArgPheAsnIleAsnAspArgIleLysGluLeuGlyThrLeuIleProLysSerAsnAspProAspMetArgTrpAsnLysGlyThrIleLeuLysAlaSerValAspTyrIleArgLysLeuGlnArgGluGlnGlnArgAlaLysGluLeuGluAsnArgGlnLysLysLeuGluHisAlaAsnArgHisLeuLeuLeuArgIleGlnGluLeuGluMetGlnAlaArgAlaHisGlyLeuSerLeuIleProSerThrGlyLeuCysSerProAspLeuValAsnArgIleIleLysGlnGluProValLeuGluAsnCysSerGlnAspLeuLeuGlnHisHisAlaAspLeuThrCysThrThrThrLeuAspLeuThrAspGlyThrIleThrPheAsnAsnAsnLeuGlyThrGlyThrGluAlaAsnGlnAlaTyrSerValProThrLysMetGlySerLysLeuGluAspIleLeuMetAspAspThrLeuSerProValGlyValThrAspProLeuLeuSerSerValSerProGlyAlaSerLysThrSerSerArgArgSerSerMetSerMetGluGluThrGluHisThrCysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS262847" }, { "coordinates": [ { "allele": "A", "end": 160, "referenceAllele": "C", "start": 159 } ], "gene": "http://reg.genome.network/gene/GN007105", "geneNCBI_id": 4286, "geneSymbol": "MITF", "hgvs": [ "ENST00000394348.2:c.66C>A" ], "proteinEffect": { "hgvs": "ENSP00000481286.1:p.Tyr22Ter", "hgvsWellDefined": "ENSP00000481286.1:p.Tyr22_Gln91delinsHisIleGlnGlnAlaGlnArgGlnGlnValLysGlnTyrLeuSerThrThrLeuAlaAsnLysHisAlaAsnGlnValLeuSerLeuProCysProAsnGlnProGlyAspHisValMetProProValProGlySerSerAlaProAsnSerProMetAlaMetLeuThrLeuAsnSerAsnCysGluLysGluPheMetLysGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS276134" }, { "coordinates": [ { "allele": "A", "end": 186, "referenceAllele": "C", "start": 185 } ], "gene": "http://reg.genome.network/gene/GN007105", "geneNCBI_id": 4286, "geneSymbol": "MITF", "hgvs": [ "ENST00000394351.7:c.66C>A" ], "proteinEffect": { "hgvs": "ENSP00000377880.3:p.Tyr22Ter", "hgvsWellDefined": "ENSP00000377880.3:p.Tyr22_Cys419delinsHisIleGlnGlnAlaGlnArgGlnGlnValLysGlnTyrLeuSerThrThrLeuAlaAsnLysHisAlaAsnGlnValLeuSerLeuProCysProAsnGlnProGlyAspHisValMetProProValProGlySerSerAlaProAsnSerProMetAlaMetLeuThrLeuAsnSerAsnCysGluLysGluGlyPheTyrLysPheGluGluGlnAsnArgAlaGluSerGluCysProGlyMetAsnThrHisSerArgAlaSerCysMetGlnMetAspAspValIleAspAspIleIleSerLeuGluSerSerTyrAsnGluGluIleLeuGlyLeuMetAspProAlaLeuGlnMetAlaAsnThrLeuProValSerGlyAsnLeuIleAspLeuTyrGlyAsnGlnGlyLeuProProProGlyLeuThrIleSerAsnSerCysProAlaAsnLeuProAsnIleLysArgGluLeuThrAlaCysIlePheProThrGluSerGluAlaArgAlaLeuAlaLysGluArgGlnLysLysAspAsnHisAsnLeuIleGluArgArgArgArgPheAsnIleAsnAspArgIleLysGluLeuGlyThrLeuIleProLysSerAsnAspProAspMetArgTrpAsnLysGlyThrIleLeuLysAlaSerValAspTyrIleArgLysLeuGlnArgGluGlnGlnArgAlaLysGluLeuGluAsnArgGlnLysLysLeuGluHisAlaAsnArgHisLeuLeuLeuArgIleGlnGluLeuGluMetGlnAlaArgAlaHisGlyLeuSerLeuIleProSerThrGlyLeuCysSerProAspLeuValAsnArgIleIleLysGlnGluProValLeuGluAsnCysSerGlnAspLeuLeuGlnHisHisAlaAspLeuThrCysThrThrThrLeuAspLeuThrAspGlyThrIleThrPheAsnAsnAsnLeuGlyThrGlyThrGluAlaAsnGlnAlaTyrSerValProThrLysMetGlySerLysLeuGluAspIleLeuMetAspAspThrLeuSerProValGlyValThrAspProLeuLeuSerSerValSerProGlyAlaSerLysThrSerSerArgArgSerSerMetSerMetGluGluThrGluHisThrCysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS276136" }, { "coordinates": [ { "allele": "A", "end": 349, "referenceAllele": "C", "start": 348 } ], "gene": "http://reg.genome.network/gene/GN007105", "geneNCBI_id": 4286, "geneSymbol": "MITF", "hgvs": [ "ENST00000433517.5:c.231C>A" ], "proteinEffect": { "hgvs": "ENSP00000411389.1:p.Tyr77Ter", "hgvsWellDefined": "ENSP00000411389.1:p.Tyr77_Tyr157del" }, "referenceSequence": "http://reg.genome.network/refseq/RS292582" }, { "coordinates": [ { "allele": "A", "end": 514, "referenceAllele": "C", "start": 513 } ], "gene": "http://reg.genome.network/gene/GN007105", "geneNCBI_id": 4286, "geneSymbol": "MITF", "hgvs": [ "ENST00000448226.6:c.387C>A" ], "proteinEffect": { "hgvs": "ENSP00000391803.2:p.Tyr129Ter", "hgvsWellDefined": "ENSP00000391803.2:p.Tyr129_Cys526delinsHisIleGlnGlnAlaGlnArgGlnGlnValLysGlnTyrLeuSerThrThrLeuAlaAsnLysHisAlaAsnGlnValLeuSerLeuProCysProAsnGlnProGlyAspHisValMetProProValProGlySerSerAlaProAsnSerProMetAlaMetLeuThrLeuAsnSerAsnCysGluLysGluGlyPheTyrLysPheGluGluGlnAsnArgAlaGluSerGluCysProGlyMetAsnThrHisSerArgAlaSerCysMetGlnMetAspAspValIleAspAspIleIleSerLeuGluSerSerTyrAsnGluGluIleLeuGlyLeuMetAspProAlaLeuGlnMetAlaAsnThrLeuProValSerGlyAsnLeuIleAspLeuTyrGlyAsnGlnGlyLeuProProProGlyLeuThrIleSerAsnSerCysProAlaAsnLeuProAsnIleLysArgGluLeuThrAlaCysIlePheProThrGluSerGluAlaArgAlaLeuAlaLysGluArgGlnLysLysAspAsnHisAsnLeuIleGluArgArgArgArgPheAsnIleAsnAspArgIleLysGluLeuGlyThrLeuIleProLysSerAsnAspProAspMetArgTrpAsnLysGlyThrIleLeuLysAlaSerValAspTyrIleArgLysLeuGlnArgGluGlnGlnArgAlaLysGluLeuGluAsnArgGlnLysLysLeuGluHisAlaAsnArgHisLeuLeuLeuArgIleGlnGluLeuGluMetGlnAlaArgAlaHisGlyLeuSerLeuIleProSerThrGlyLeuCysSerProAspLeuValAsnArgIleIleLysGlnGluProValLeuGluAsnCysSerGlnAspLeuLeuGlnHisHisAlaAspLeuThrCysThrThrThrLeuAspLeuThrAspGlyThrIleThrPheAsnAsnAsnLeuGlyThrGlyThrGluAlaAsnGlnAlaTyrSerValProThrLysMetGlySerLysLeuGluAspIleLeuMetAspAspThrLeuSerProValGlyValThrAspProLeuLeuSerSerValSerProGlyAlaSerLysThrSerSerArgArgSerSerMetSerMetGluGluThrGluHisThrCysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS299629" }, { "coordinates": [ { "allele": "A", "end": 371, "referenceAllele": "C", "start": 370 } ], "gene": "http://reg.genome.network/gene/GN007105", "geneNCBI_id": 4286, "geneSymbol": "MITF", "hgvs": [ "ENST00000451708.5:c.339C>A" ], "proteinEffect": { "hgvs": "ENSP00000398639.1:p.Tyr113Ter", "hgvsWellDefined": "ENSP00000398639.1:p.Tyr113Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS301298" }, { "coordinates": [ { "allele": "A", "end": 377, "referenceAllele": "C", "start": 376 } ], "gene": "http://reg.genome.network/gene/GN007105", "geneNCBI_id": 4286, "geneSymbol": "MITF", "hgvs": [ "ENST00000461014.1:n.377C>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS305631" }, { "coordinates": [ { "allele": "A", "end": 420, "referenceAllele": "C", "start": 419 } ], "gene": "http://reg.genome.network/gene/GN007105", "geneNCBI_id": 4286, "geneSymbol": "MITF", "hgvs": [ "ENST00000472437.5:c.231C>A" ], "proteinEffect": { "hgvs": "ENSP00000418845.1:p.Tyr77Ter", "hgvsWellDefined": "ENSP00000418845.1:p.Tyr77_Cys468delinsHisIleGlnGlnAlaGlnArgGlnGlnValLysGlnTyrLeuSerThrThrLeuAlaAsnLysHisAlaAsnGlnValLeuSerLeuProCysProAsnGlnProGlyAspHisValMetProProValProGlySerSerAlaProAsnSerProMetAlaMetLeuThrLeuAsnSerAsnCysGluLysGluGlyPheTyrLysPheGluGluGlnAsnArgAlaGluSerGluCysProGlyMetAsnThrHisSerArgAlaSerCysMetGlnMetAspAspValIleAspAspIleIleSerLeuGluSerSerTyrAsnGluGluIleLeuGlyLeuMetAspProAlaLeuGlnMetAlaAsnThrLeuProValSerGlyAsnLeuIleAspLeuTyrGlyAsnGlnGlyLeuProProProGlyLeuThrIleSerAsnSerCysProAlaAsnLeuProAsnIleLysArgGluLeuThrGluSerGluAlaArgAlaLeuAlaLysGluArgGlnLysLysAspAsnHisAsnLeuIleGluArgArgArgArgPheAsnIleAsnAspArgIleLysGluLeuGlyThrLeuIleProLysSerAsnAspProAspMetArgTrpAsnLysGlyThrIleLeuLysAlaSerValAspTyrIleArgLysLeuGlnArgGluGlnGlnArgAlaLysGluLeuGluAsnArgGlnLysLysLeuGluHisAlaAsnArgHisLeuLeuLeuArgIleGlnGluLeuGluMetGlnAlaArgAlaHisGlyLeuSerLeuIleProSerThrGlyLeuCysSerProAspLeuValAsnArgIleIleLysGlnGluProValLeuGluAsnCysSerGlnAspLeuLeuGlnHisHisAlaAspLeuThrCysThrThrThrLeuAspLeuThrAspGlyThrIleThrPheAsnAsnAsnLeuGlyThrGlyThrGluAlaAsnGlnAlaTyrSerValProThrLysMetGlySerLysLeuGluAspIleLeuMetAspAspThrLeuSerProValGlyValThrAspProLeuLeuSerSerValSerProGlyAlaSerLysThrSerSerArgArgSerSerMetSerMetGluGluThrGluHisThrCysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS314406" }, { "coordinates": [ { "allele": "A", "end": 161, "referenceAllele": "C", "start": 160 } ], "gene": "http://reg.genome.network/gene/GN007105", "geneNCBI_id": 4286, "geneSymbol": "MITF", "hgvs": [ "ENST00000478490.5:c.66C>A" ], "proteinEffect": { "hgvs": "ENSP00000433487.1:p.Tyr22Ter", "hgvsWellDefined": "ENSP00000433487.1:p.Tyr22_Gly105delinsHisIleGlnGlnAlaGlnArgGlnGlnValLysGlnTyrLeuSerThrThrLeuAlaAsnLysHisAlaAsnGlnValLeuSerLeuProCysProAsnGlnProGlyAspHisValMetProProValProGlySerSerAlaProAsnSerProMetAlaMetLeuThrLeuAsnSerAsnCysGluLysGluGlyPheTyrLysPheGluGluGlnAsnArgAlaGluSerGluCysProAspGlyTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS319090" }, { "coordinates": [ { "allele": "A", "end": 66, "referenceAllele": "C", "start": 65 } ], "gene": "http://reg.genome.network/gene/GN007105", "geneNCBI_id": 4286, "geneSymbol": "MITF", "hgvs": [ "ENST00000531774.1:c.66C>A" ], "proteinEffect": { "hgvs": "ENSP00000435909.1:p.Tyr22Ter", "hgvsWellDefined": "ENSP00000435909.1:p.Tyr22_Cys357delinsHisIleGlnGlnAlaGlnArgGlnGlnGlyPheTyrLysPheGluGluGlnAsnArgAlaGluSerGluCysProGlyMetAsnThrHisSerArgAlaSerCysMetGlnMetAspAspValIleAspAspIleIleSerLeuGluSerSerTyrAsnGluGluIleLeuGlyLeuMetAspProAlaLeuGlnMetAlaAsnThrLeuProValSerGlyAsnLeuIleAspLeuTyrGlyAsnGlnGlyLeuProProProGlyLeuThrIleSerAsnSerCysProAlaAsnLeuProAsnIleLysArgGluLeuThrGluSerGluAlaArgAlaLeuAlaLysGluArgGlnLysLysAspAsnHisAsnLeuIleGluArgArgArgArgPheAsnIleAsnAspArgIleLysGluLeuGlyThrLeuIleProLysSerAsnAspProAspMetArgTrpAsnLysGlyThrIleLeuLysAlaSerValAspTyrIleArgLysLeuGlnArgGluGlnGlnArgAlaLysGluLeuGluAsnArgGlnLysLysLeuGluHisAlaAsnArgHisLeuLeuLeuArgIleGlnGluLeuGluMetGlnAlaArgAlaHisGlyLeuSerLeuIleProSerThrGlyLeuCysSerProAspLeuValAsnArgIleIleLysGlnGluProValLeuGluAsnCysSerGlnAspLeuLeuGlnHisHisAlaAspLeuThrCysThrThrThrLeuAspLeuThrAspGlyThrIleThrPheAsnAsnAsnLeuGlyThrGlyThrGluAlaAsnGlnAlaTyrSerValProThrLysMetGlySerLysLeuGluAspIleLeuMetAspAspThrLeuSerProValGlyValThrAspProLeuLeuSerSerValSerProGlyAlaSerLysThrSerSerArgArgSerSerMetSerMetGluGluThrGluHisThrCysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS356810" }, { "@id": "http://reg.genome.network/allele/PA2825105432", "coordinates": [ { "allele": "A", "end": 189, "referenceAllele": "C", "start": 188 } ], "gene": "http://reg.genome.network/gene/GN007105", "geneNCBI_id": 4286, "geneSymbol": "MITF", "hgvs": [ "NM_000248.3:c.66C>A", "LRG_776t1:c.66C>A" ], "proteinEffect": { "hgvs": "NP_000239.1:p.Tyr22Ter", "hgvsWellDefined": "NP_000239.1:p.Tyr22_Cys419delinsHisIleGlnGlnAlaGlnArgGlnGlnValLysGlnTyrLeuSerThrThrLeuAlaAsnLysHisAlaAsnGlnValLeuSerLeuProCysProAsnGlnProGlyAspHisValMetProProValProGlySerSerAlaProAsnSerProMetAlaMetLeuThrLeuAsnSerAsnCysGluLysGluGlyPheTyrLysPheGluGluGlnAsnArgAlaGluSerGluCysProGlyMetAsnThrHisSerArgAlaSerCysMetGlnMetAspAspValIleAspAspIleIleSerLeuGluSerSerTyrAsnGluGluIleLeuGlyLeuMetAspProAlaLeuGlnMetAlaAsnThrLeuProValSerGlyAsnLeuIleAspLeuTyrGlyAsnGlnGlyLeuProProProGlyLeuThrIleSerAsnSerCysProAlaAsnLeuProAsnIleLysArgGluLeuThrAlaCysIlePheProThrGluSerGluAlaArgAlaLeuAlaLysGluArgGlnLysLysAspAsnHisAsnLeuIleGluArgArgArgArgPheAsnIleAsnAspArgIleLysGluLeuGlyThrLeuIleProLysSerAsnAspProAspMetArgTrpAsnLysGlyThrIleLeuLysAlaSerValAspTyrIleArgLysLeuGlnArgGluGlnGlnArgAlaLysGluLeuGluAsnArgGlnLysLysLeuGluHisAlaAsnArgHisLeuLeuLeuArgIleGlnGluLeuGluMetGlnAlaArgAlaHisGlyLeuSerLeuIleProSerThrGlyLeuCysSerProAspLeuValAsnArgIleIleLysGlnGluProValLeuGluAsnCysSerGlnAspLeuLeuGlnHisHisAlaAspLeuThrCysThrThrThrLeuAspLeuThrAspGlyThrIleThrPheAsnAsnAsnLeuGlyThrGlyThrGluAlaAsnGlnAlaTyrSerValProThrLysMetGlySerLysLeuGluAspIleLeuMetAspAspThrLeuSerProValGlyValThrAspProLeuLeuSerSerValSerProGlyAlaSerLysThrSerSerArgArgSerSerMetSerMetGluGluThrGluHisThrCysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS006310" }, { "@id": "http://reg.genome.network/allele/PA2826151240", "coordinates": [ { "allele": "A", "end": 420, "referenceAllele": "C", "start": 419 } ], "gene": "http://reg.genome.network/gene/GN007105", "geneNCBI_id": 4286, "geneSymbol": "MITF", "hgvs": [ "NM_001184967.1:c.231C>A" ], "proteinEffect": { "hgvs": "NP_001171896.1:p.Tyr77Ter", "hgvsWellDefined": "NP_001171896.1:p.Tyr77_Cys468delinsHisIleGlnGlnAlaGlnArgGlnGlnValLysGlnTyrLeuSerThrThrLeuAlaAsnLysHisAlaAsnGlnValLeuSerLeuProCysProAsnGlnProGlyAspHisValMetProProValProGlySerSerAlaProAsnSerProMetAlaMetLeuThrLeuAsnSerAsnCysGluLysGluGlyPheTyrLysPheGluGluGlnAsnArgAlaGluSerGluCysProGlyMetAsnThrHisSerArgAlaSerCysMetGlnMetAspAspValIleAspAspIleIleSerLeuGluSerSerTyrAsnGluGluIleLeuGlyLeuMetAspProAlaLeuGlnMetAlaAsnThrLeuProValSerGlyAsnLeuIleAspLeuTyrGlyAsnGlnGlyLeuProProProGlyLeuThrIleSerAsnSerCysProAlaAsnLeuProAsnIleLysArgGluLeuThrGluSerGluAlaArgAlaLeuAlaLysGluArgGlnLysLysAspAsnHisAsnLeuIleGluArgArgArgArgPheAsnIleAsnAspArgIleLysGluLeuGlyThrLeuIleProLysSerAsnAspProAspMetArgTrpAsnLysGlyThrIleLeuLysAlaSerValAspTyrIleArgLysLeuGlnArgGluGlnGlnArgAlaLysGluLeuGluAsnArgGlnLysLysLeuGluHisAlaAsnArgHisLeuLeuLeuArgIleGlnGluLeuGluMetGlnAlaArgAlaHisGlyLeuSerLeuIleProSerThrGlyLeuCysSerProAspLeuValAsnArgIleIleLysGlnGluProValLeuGluAsnCysSerGlnAspLeuLeuGlnHisHisAlaAspLeuThrCysThrThrThrLeuAspLeuThrAspGlyThrIleThrPheAsnAsnAsnLeuGlyThrGlyThrGluAlaAsnGlnAlaTyrSerValProThrLysMetGlySerLysLeuGluAspIleLeuMetAspAspThrLeuSerProValGlyValThrAspProLeuLeuSerSerValSerProGlyAlaSerLysThrSerSerArgArgSerSerMetSerMetGluGluThrGluHisThrCysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS016055" }, { "@id": "http://reg.genome.network/allele/PA2826151606", "coordinates": [ { "allele": "A", "end": 189, "referenceAllele": "C", "start": 188 } ], "gene": "http://reg.genome.network/gene/GN007105", "geneNCBI_id": 4286, "geneSymbol": "MITF", "hgvs": [ "NM_001184968.1:c.66C>A" ], "proteinEffect": { "hgvs": "NP_001171897.1:p.Tyr22Ter", "hgvsWellDefined": "NP_001171897.1:p.Tyr22_Gln91delinsHisIleGlnGlnAlaGlnArgGlnGlnValLysGlnTyrLeuSerThrThrLeuAlaAsnLysHisAlaAsnGlnValLeuSerLeuProCysProAsnGlnProGlyAspHisValMetProProValProGlySerSerAlaProAsnSerProMetAlaMetLeuThrLeuAsnSerAsnCysGluLysGluPheMetLysGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS016056" }, { "@id": "http://reg.genome.network/allele/PA2829650998", "coordinates": [ { "allele": "A", "end": 415, "referenceAllele": "C", "start": 414 } ], "gene": "http://reg.genome.network/gene/GN007105", "geneNCBI_id": 4286, "geneSymbol": "MITF", "hgvs": [ "NM_006722.2:c.384C>A" ], "proteinEffect": { "hgvs": "NP_006713.1:p.Tyr128Ter", "hgvsWellDefined": "NP_006713.1:p.Tyr128_Cys519delinsHisIleGlnGlnAlaGlnArgGlnGlnValLysGlnTyrLeuSerThrThrLeuAlaAsnLysHisAlaAsnGlnValLeuSerLeuProCysProAsnGlnProGlyAspHisValMetProProValProGlySerSerAlaProAsnSerProMetAlaMetLeuThrLeuAsnSerAsnCysGluLysGluGlyPheTyrLysPheGluGluGlnAsnArgAlaGluSerGluCysProGlyMetAsnThrHisSerArgAlaSerCysMetGlnMetAspAspValIleAspAspIleIleSerLeuGluSerSerTyrAsnGluGluIleLeuGlyLeuMetAspProAlaLeuGlnMetAlaAsnThrLeuProValSerGlyAsnLeuIleAspLeuTyrGlyAsnGlnGlyLeuProProProGlyLeuThrIleSerAsnSerCysProAlaAsnLeuProAsnIleLysArgGluLeuThrGluSerGluAlaArgAlaLeuAlaLysGluArgGlnLysLysAspAsnHisAsnLeuIleGluArgArgArgArgPheAsnIleAsnAspArgIleLysGluLeuGlyThrLeuIleProLysSerAsnAspProAspMetArgTrpAsnLysGlyThrIleLeuLysAlaSerValAspTyrIleArgLysLeuGlnArgGluGlnGlnArgAlaLysGluLeuGluAsnArgGlnLysLysLeuGluHisAlaAsnArgHisLeuLeuLeuArgIleGlnGluLeuGluMetGlnAlaArgAlaHisGlyLeuSerLeuIleProSerThrGlyLeuCysSerProAspLeuValAsnArgIleIleLysGlnGluProValLeuGluAsnCysSerGlnAspLeuLeuGlnHisHisAlaAspLeuThrCysThrThrThrLeuAspLeuThrAspGlyThrIleThrPheAsnAsnAsnLeuGlyThrGlyThrGluAlaAsnGlnAlaTyrSerValProThrLysMetGlySerLysLeuGluAspIleLeuMetAspAspThrLeuSerProValGlyValThrAspProLeuLeuSerSerValSerProGlyAlaSerLysThrSerSerArgArgSerSerMetSerMetGluGluThrGluHisThrCysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS031711" }, { "@id": "http://reg.genome.network/allele/PA2830431101", "coordinates": [ { "allele": "A", "end": 189, "referenceAllele": "C", "start": 188 } ], "gene": "http://reg.genome.network/gene/GN007105", "geneNCBI_id": 4286, "geneSymbol": "MITF", "hgvs": [ "NM_198158.2:c.66C>A" ], "proteinEffect": { "hgvs": "NP_937801.1:p.Tyr22Ter", "hgvsWellDefined": "NP_937801.1:p.Tyr22_Cys413delinsHisIleGlnGlnAlaGlnArgGlnGlnValLysGlnTyrLeuSerThrThrLeuAlaAsnLysHisAlaAsnGlnValLeuSerLeuProCysProAsnGlnProGlyAspHisValMetProProValProGlySerSerAlaProAsnSerProMetAlaMetLeuThrLeuAsnSerAsnCysGluLysGluGlyPheTyrLysPheGluGluGlnAsnArgAlaGluSerGluCysProGlyMetAsnThrHisSerArgAlaSerCysMetGlnMetAspAspValIleAspAspIleIleSerLeuGluSerSerTyrAsnGluGluIleLeuGlyLeuMetAspProAlaLeuGlnMetAlaAsnThrLeuProValSerGlyAsnLeuIleAspLeuTyrGlyAsnGlnGlyLeuProProProGlyLeuThrIleSerAsnSerCysProAlaAsnLeuProAsnIleLysArgGluLeuThrGluSerGluAlaArgAlaLeuAlaLysGluArgGlnLysLysAspAsnHisAsnLeuIleGluArgArgArgArgPheAsnIleAsnAspArgIleLysGluLeuGlyThrLeuIleProLysSerAsnAspProAspMetArgTrpAsnLysGlyThrIleLeuLysAlaSerValAspTyrIleArgLysLeuGlnArgGluGlnGlnArgAlaLysGluLeuGluAsnArgGlnLysLysLeuGluHisAlaAsnArgHisLeuLeuLeuArgIleGlnGluLeuGluMetGlnAlaArgAlaHisGlyLeuSerLeuIleProSerThrGlyLeuCysSerProAspLeuValAsnArgIleIleLysGlnGluProValLeuGluAsnCysSerGlnAspLeuLeuGlnHisHisAlaAspLeuThrCysThrThrThrLeuAspLeuThrAspGlyThrIleThrPheAsnAsnAsnLeuGlyThrGlyThrGluAlaAsnGlnAlaTyrSerValProThrLysMetGlySerLysLeuGluAspIleLeuMetAspAspThrLeuSerProValGlyValThrAspProLeuLeuSerSerValSerProGlyAlaSerLysThrSerSerArgArgSerSerMetSerMetGluGluThrGluHisThrCysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS044446" }, { "@id": "http://reg.genome.network/allele/PA2830431639", "coordinates": [ { "allele": "A", "end": 550, "referenceAllele": "C", "start": 549 } ], "gene": "http://reg.genome.network/gene/GN007105", "geneNCBI_id": 4286, "geneSymbol": "MITF", "hgvs": [ "NM_198159.2:c.387C>A" ], "proteinEffect": { "hgvs": "NP_937802.1:p.Tyr129Ter", "hgvsWellDefined": "NP_937802.1:p.Tyr129_Cys520delinsHisIleGlnGlnAlaGlnArgGlnGlnValLysGlnTyrLeuSerThrThrLeuAlaAsnLysHisAlaAsnGlnValLeuSerLeuProCysProAsnGlnProGlyAspHisValMetProProValProGlySerSerAlaProAsnSerProMetAlaMetLeuThrLeuAsnSerAsnCysGluLysGluGlyPheTyrLysPheGluGluGlnAsnArgAlaGluSerGluCysProGlyMetAsnThrHisSerArgAlaSerCysMetGlnMetAspAspValIleAspAspIleIleSerLeuGluSerSerTyrAsnGluGluIleLeuGlyLeuMetAspProAlaLeuGlnMetAlaAsnThrLeuProValSerGlyAsnLeuIleAspLeuTyrGlyAsnGlnGlyLeuProProProGlyLeuThrIleSerAsnSerCysProAlaAsnLeuProAsnIleLysArgGluLeuThrGluSerGluAlaArgAlaLeuAlaLysGluArgGlnLysLysAspAsnHisAsnLeuIleGluArgArgArgArgPheAsnIleAsnAspArgIleLysGluLeuGlyThrLeuIleProLysSerAsnAspProAspMetArgTrpAsnLysGlyThrIleLeuLysAlaSerValAspTyrIleArgLysLeuGlnArgGluGlnGlnArgAlaLysGluLeuGluAsnArgGlnLysLysLeuGluHisAlaAsnArgHisLeuLeuLeuArgIleGlnGluLeuGluMetGlnAlaArgAlaHisGlyLeuSerLeuIleProSerThrGlyLeuCysSerProAspLeuValAsnArgIleIleLysGlnGluProValLeuGluAsnCysSerGlnAspLeuLeuGlnHisHisAlaAspLeuThrCysThrThrThrLeuAspLeuThrAspGlyThrIleThrPheAsnAsnAsnLeuGlyThrGlyThrGluAlaAsnGlnAlaTyrSerValProThrLysMetGlySerLysLeuGluAspIleLeuMetAspAspThrLeuSerProValGlyValThrAspProLeuLeuSerSerValSerProGlyAlaSerLysThrSerSerArgArgSerSerMetSerMetGluGluThrGluHisThrCysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS044447" }, { "@id": "http://reg.genome.network/allele/PA2830432540", "coordinates": [ { "allele": "A", "end": 406, "referenceAllele": "C", "start": 405 } ], "gene": "http://reg.genome.network/gene/GN007105", "geneNCBI_id": 4286, "geneSymbol": "MITF", "hgvs": [ "NM_198177.2:c.339C>A" ], "proteinEffect": { "hgvs": "NP_937820.1:p.Tyr113Ter", "hgvsWellDefined": "NP_937820.1:p.Tyr113_Cys504delinsHisIleGlnGlnAlaGlnArgGlnGlnValLysGlnTyrLeuSerThrThrLeuAlaAsnLysHisAlaAsnGlnValLeuSerLeuProCysProAsnGlnProGlyAspHisValMetProProValProGlySerSerAlaProAsnSerProMetAlaMetLeuThrLeuAsnSerAsnCysGluLysGluGlyPheTyrLysPheGluGluGlnAsnArgAlaGluSerGluCysProGlyMetAsnThrHisSerArgAlaSerCysMetGlnMetAspAspValIleAspAspIleIleSerLeuGluSerSerTyrAsnGluGluIleLeuGlyLeuMetAspProAlaLeuGlnMetAlaAsnThrLeuProValSerGlyAsnLeuIleAspLeuTyrGlyAsnGlnGlyLeuProProProGlyLeuThrIleSerAsnSerCysProAlaAsnLeuProAsnIleLysArgGluLeuThrGluSerGluAlaArgAlaLeuAlaLysGluArgGlnLysLysAspAsnHisAsnLeuIleGluArgArgArgArgPheAsnIleAsnAspArgIleLysGluLeuGlyThrLeuIleProLysSerAsnAspProAspMetArgTrpAsnLysGlyThrIleLeuLysAlaSerValAspTyrIleArgLysLeuGlnArgGluGlnGlnArgAlaLysGluLeuGluAsnArgGlnLysLysLeuGluHisAlaAsnArgHisLeuLeuLeuArgIleGlnGluLeuGluMetGlnAlaArgAlaHisGlyLeuSerLeuIleProSerThrGlyLeuCysSerProAspLeuValAsnArgIleIleLysGlnGluProValLeuGluAsnCysSerGlnAspLeuLeuGlnHisHisAlaAspLeuThrCysThrThrThrLeuAspLeuThrAspGlyThrIleThrPheAsnAsnAsnLeuGlyThrGlyThrGluAlaAsnGlnAlaTyrSerValProThrLysMetGlySerLysLeuGluAspIleLeuMetAspAspThrLeuSerProValGlyValThrAspProLeuLeuSerSerValSerProGlyAlaSerLysThrSerSerArgArgSerSerMetSerMetGluGluThrGluHisThrCysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS044451" }, { "@id": "http://reg.genome.network/allele/PA2830433243", "coordinates": [ { "allele": "A", "end": 189, "referenceAllele": "C", "start": 188 } ], "gene": "http://reg.genome.network/gene/GN007105", "geneNCBI_id": 4286, "geneSymbol": "MITF", "hgvs": [ "NM_198178.2:c.66C>A" ], "proteinEffect": { "hgvs": "NP_937821.2:p.Tyr22Ter", "hgvsWellDefined": "NP_937821.2:p.Tyr22_Cys357delinsHisIleGlnGlnAlaGlnArgGlnGlnGlyPheTyrLysPheGluGluGlnAsnArgAlaGluSerGluCysProGlyMetAsnThrHisSerArgAlaSerCysMetGlnMetAspAspValIleAspAspIleIleSerLeuGluSerSerTyrAsnGluGluIleLeuGlyLeuMetAspProAlaLeuGlnMetAlaAsnThrLeuProValSerGlyAsnLeuIleAspLeuTyrGlyAsnGlnGlyLeuProProProGlyLeuThrIleSerAsnSerCysProAlaAsnLeuProAsnIleLysArgGluLeuThrGluSerGluAlaArgAlaLeuAlaLysGluArgGlnLysLysAspAsnHisAsnLeuIleGluArgArgArgArgPheAsnIleAsnAspArgIleLysGluLeuGlyThrLeuIleProLysSerAsnAspProAspMetArgTrpAsnLysGlyThrIleLeuLysAlaSerValAspTyrIleArgLysLeuGlnArgGluGlnGlnArgAlaLysGluLeuGluAsnArgGlnLysLysLeuGluHisAlaAsnArgHisLeuLeuLeuArgIleGlnGluLeuGluMetGlnAlaArgAlaHisGlyLeuSerLeuIleProSerThrGlyLeuCysSerProAspLeuValAsnArgIleIleLysGlnGluProValLeuGluAsnCysSerGlnAspLeuLeuGlnHisHisAlaAspLeuThrCysThrThrThrLeuAspLeuThrAspGlyThrIleThrPheAsnAsnAsnLeuGlyThrGlyThrGluAlaAsnGlnAlaTyrSerValProThrLysMetGlySerLysLeuGluAspIleLeuMetAspAspThrLeuSerProValGlyValThrAspProLeuLeuSerSerValSerProGlyAlaSerLysThrSerSerArgArgSerSerMetSerMetGluGluThrGluHisThrCysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS044452" }, { "coordinates": [ { "allele": "A", "end": 522, "referenceAllele": "C", "start": 521 } ], "gene": "http://reg.genome.network/gene/GN007105", "geneNCBI_id": 4286, "geneSymbol": "MITF", "hgvs": [ "XM_005264754.1:c.387C>A" ], "proteinEffect": { "hgvs": "XP_005264811.1:p.Tyr129Ter", "hgvsWellDefined": "XP_005264811.1:p.Tyr129_Cys526delinsHisIleGlnGlnAlaGlnArgGlnGlnValLysGlnTyrLeuSerThrThrLeuAlaAsnLysHisAlaAsnGlnValLeuSerLeuProCysProAsnGlnProGlyAspHisValMetProProValProGlySerSerAlaProAsnSerProMetAlaMetLeuThrLeuAsnSerAsnCysGluLysGluGlyPheTyrLysPheGluGluGlnAsnArgAlaGluSerGluCysProGlyMetAsnThrHisSerArgAlaSerCysMetGlnMetAspAspValIleAspAspIleIleSerLeuGluSerSerTyrAsnGluGluIleLeuGlyLeuMetAspProAlaLeuGlnMetAlaAsnThrLeuProValSerGlyAsnLeuIleAspLeuTyrGlyAsnGlnGlyLeuProProProGlyLeuThrIleSerAsnSerCysProAlaAsnLeuProAsnIleLysArgGluLeuThrAlaCysIlePheProThrGluSerGluAlaArgAlaLeuAlaLysGluArgGlnLysLysAspAsnHisAsnLeuIleGluArgArgArgArgPheAsnIleAsnAspArgIleLysGluLeuGlyThrLeuIleProLysSerAsnAspProAspMetArgTrpAsnLysGlyThrIleLeuLysAlaSerValAspTyrIleArgLysLeuGlnArgGluGlnGlnArgAlaLysGluLeuGluAsnArgGlnLysLysLeuGluHisAlaAsnArgHisLeuLeuLeuArgIleGlnGluLeuGluMetGlnAlaArgAlaHisGlyLeuSerLeuIleProSerThrGlyLeuCysSerProAspLeuValAsnArgIleIleLysGlnGluProValLeuGluAsnCysSerGlnAspLeuLeuGlnHisHisAlaAspLeuThrCysThrThrThrLeuAspLeuThrAspGlyThrIleThrPheAsnAsnAsnLeuGlyThrGlyThrGluAlaAsnGlnAlaTyrSerValProThrLysMetGlySerLysLeuGluAspIleLeuMetAspAspThrLeuSerProValGlyValThrAspProLeuLeuSerSerValSerProGlyAlaSerLysThrSerSerArgArgSerSerMetSerMetGluGluThrGluHisThrCysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS064358" }, { "coordinates": [ { "allele": "A", "end": 401, "referenceAllele": "C", "start": 400 } ], "gene": "http://reg.genome.network/gene/GN007105", "geneNCBI_id": 4286, "geneSymbol": "MITF", "hgvs": [ "XM_005264755.2:c.339C>A" ], "proteinEffect": { "hgvs": "XP_005264812.1:p.Tyr113Ter", "hgvsWellDefined": "XP_005264812.1:p.Tyr113_Cys510delinsHisIleGlnGlnAlaGlnArgGlnGlnValLysGlnTyrLeuSerThrThrLeuAlaAsnLysHisAlaAsnGlnValLeuSerLeuProCysProAsnGlnProGlyAspHisValMetProProValProGlySerSerAlaProAsnSerProMetAlaMetLeuThrLeuAsnSerAsnCysGluLysGluGlyPheTyrLysPheGluGluGlnAsnArgAlaGluSerGluCysProGlyMetAsnThrHisSerArgAlaSerCysMetGlnMetAspAspValIleAspAspIleIleSerLeuGluSerSerTyrAsnGluGluIleLeuGlyLeuMetAspProAlaLeuGlnMetAlaAsnThrLeuProValSerGlyAsnLeuIleAspLeuTyrGlyAsnGlnGlyLeuProProProGlyLeuThrIleSerAsnSerCysProAlaAsnLeuProAsnIleLysArgGluLeuThrAlaCysIlePheProThrGluSerGluAlaArgAlaLeuAlaLysGluArgGlnLysLysAspAsnHisAsnLeuIleGluArgArgArgArgPheAsnIleAsnAspArgIleLysGluLeuGlyThrLeuIleProLysSerAsnAspProAspMetArgTrpAsnLysGlyThrIleLeuLysAlaSerValAspTyrIleArgLysLeuGlnArgGluGlnGlnArgAlaLysGluLeuGluAsnArgGlnLysLysLeuGluHisAlaAsnArgHisLeuLeuLeuArgIleGlnGluLeuGluMetGlnAlaArgAlaHisGlyLeuSerLeuIleProSerThrGlyLeuCysSerProAspLeuValAsnArgIleIleLysGlnGluProValLeuGluAsnCysSerGlnAspLeuLeuGlnHisHisAlaAspLeuThrCysThrThrThrLeuAspLeuThrAspGlyThrIleThrPheAsnAsnAsnLeuGlyThrGlyThrGluAlaAsnGlnAlaTyrSerValProThrLysMetGlySerLysLeuGluAspIleLeuMetAspAspThrLeuSerProValGlyValThrAspProLeuLeuSerSerValSerProGlyAlaSerLysThrSerSerArgArgSerSerMetSerMetGluGluThrGluHisThrCysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS064359" }, { "coordinates": [ { "allele": "A", "end": 542, "referenceAllele": "C", "start": 541 } ], "gene": "http://reg.genome.network/gene/GN007105", "geneNCBI_id": 4286, "geneSymbol": "MITF", "hgvs": [ "XM_006713164.2:c.231C>A" ], "proteinEffect": { "hgvs": "XP_006713227.1:p.Tyr77Ter", "hgvsWellDefined": "XP_006713227.1:p.Tyr77_Cys474delinsHisIleGlnGlnAlaGlnArgGlnGlnValLysGlnTyrLeuSerThrThrLeuAlaAsnLysHisAlaAsnGlnValLeuSerLeuProCysProAsnGlnProGlyAspHisValMetProProValProGlySerSerAlaProAsnSerProMetAlaMetLeuThrLeuAsnSerAsnCysGluLysGluGlyPheTyrLysPheGluGluGlnAsnArgAlaGluSerGluCysProGlyMetAsnThrHisSerArgAlaSerCysMetGlnMetAspAspValIleAspAspIleIleSerLeuGluSerSerTyrAsnGluGluIleLeuGlyLeuMetAspProAlaLeuGlnMetAlaAsnThrLeuProValSerGlyAsnLeuIleAspLeuTyrGlyAsnGlnGlyLeuProProProGlyLeuThrIleSerAsnSerCysProAlaAsnLeuProAsnIleLysArgGluLeuThrAlaCysIlePheProThrGluSerGluAlaArgAlaLeuAlaLysGluArgGlnLysLysAspAsnHisAsnLeuIleGluArgArgArgArgPheAsnIleAsnAspArgIleLysGluLeuGlyThrLeuIleProLysSerAsnAspProAspMetArgTrpAsnLysGlyThrIleLeuLysAlaSerValAspTyrIleArgLysLeuGlnArgGluGlnGlnArgAlaLysGluLeuGluAsnArgGlnLysLysLeuGluHisAlaAsnArgHisLeuLeuLeuArgIleGlnGluLeuGluMetGlnAlaArgAlaHisGlyLeuSerLeuIleProSerThrGlyLeuCysSerProAspLeuValAsnArgIleIleLysGlnGluProValLeuGluAsnCysSerGlnAspLeuLeuGlnHisHisAlaAspLeuThrCysThrThrThrLeuAspLeuThrAspGlyThrIleThrPheAsnAsnAsnLeuGlyThrGlyThrGluAlaAsnGlnAlaTyrSerValProThrLysMetGlySerLysLeuGluAspIleLeuMetAspAspThrLeuSerProValGlyValThrAspProLeuLeuSerSerValSerProGlyAlaSerLysThrSerSerArgArgSerSerMetSerMetGluGluThrGluHisThrCysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS070030" }, { "coordinates": [ { "allele": "A", "end": 525, "referenceAllele": "C", "start": 524 } ], "gene": "http://reg.genome.network/gene/GN007105", "geneNCBI_id": 4286, "geneSymbol": "MITF", "hgvs": [ "XM_011533722.1:c.384C>A" ], "proteinEffect": { "hgvs": "XP_011532024.1:p.Tyr128Ter", "hgvsWellDefined": "XP_011532024.1:p.Tyr128_Cys525delinsHisIleGlnGlnAlaGlnArgGlnGlnValLysGlnTyrLeuSerThrThrLeuAlaAsnLysHisAlaAsnGlnValLeuSerLeuProCysProAsnGlnProGlyAspHisValMetProProValProGlySerSerAlaProAsnSerProMetAlaMetLeuThrLeuAsnSerAsnCysGluLysGluGlyPheTyrLysPheGluGluGlnAsnArgAlaGluSerGluCysProGlyMetAsnThrHisSerArgAlaSerCysMetGlnMetAspAspValIleAspAspIleIleSerLeuGluSerSerTyrAsnGluGluIleLeuGlyLeuMetAspProAlaLeuGlnMetAlaAsnThrLeuProValSerGlyAsnLeuIleAspLeuTyrGlyAsnGlnGlyLeuProProProGlyLeuThrIleSerAsnSerCysProAlaAsnLeuProAsnIleLysArgGluLeuThrAlaCysIlePheProThrGluSerGluAlaArgAlaLeuAlaLysGluArgGlnLysLysAspAsnHisAsnLeuIleGluArgArgArgArgPheAsnIleAsnAspArgIleLysGluLeuGlyThrLeuIleProLysSerAsnAspProAspMetArgTrpAsnLysGlyThrIleLeuLysAlaSerValAspTyrIleArgLysLeuGlnArgGluGlnGlnArgAlaLysGluLeuGluAsnArgGlnLysLysLeuGluHisAlaAsnArgHisLeuLeuLeuArgIleGlnGluLeuGluMetGlnAlaArgAlaHisGlyLeuSerLeuIleProSerThrGlyLeuCysSerProAspLeuValAsnArgIleIleLysGlnGluProValLeuGluAsnCysSerGlnAspLeuLeuGlnHisHisAlaAspLeuThrCysThrThrThrLeuAspLeuThrAspGlyThrIleThrPheAsnAsnAsnLeuGlyThrGlyThrGluAlaAsnGlnAlaTyrSerValProThrLysMetGlySerLysLeuGluAspIleLeuMetAspAspThrLeuSerProValGlyValThrAspProLeuLeuSerSerValSerProGlyAlaSerLysThrSerSerArgArgSerSerMetSerMetGluGluThrGluHisThrCysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS100743" }, { "coordinates": [ { "allele": "A", "end": 388, "referenceAllele": "C", "start": 387 } ], "gene": "http://reg.genome.network/gene/GN007105", "geneNCBI_id": 4286, "geneSymbol": "MITF", "hgvs": [ "XM_011533723.1:c.336C>A" ], "proteinEffect": { "hgvs": "XP_011532025.1:p.Tyr112Ter", "hgvsWellDefined": "XP_011532025.1:p.Tyr112_Cys509delinsHisIleGlnGlnAlaGlnArgGlnGlnValLysGlnTyrLeuSerThrThrLeuAlaAsnLysHisAlaAsnGlnValLeuSerLeuProCysProAsnGlnProGlyAspHisValMetProProValProGlySerSerAlaProAsnSerProMetAlaMetLeuThrLeuAsnSerAsnCysGluLysGluGlyPheTyrLysPheGluGluGlnAsnArgAlaGluSerGluCysProGlyMetAsnThrHisSerArgAlaSerCysMetGlnMetAspAspValIleAspAspIleIleSerLeuGluSerSerTyrAsnGluGluIleLeuGlyLeuMetAspProAlaLeuGlnMetAlaAsnThrLeuProValSerGlyAsnLeuIleAspLeuTyrGlyAsnGlnGlyLeuProProProGlyLeuThrIleSerAsnSerCysProAlaAsnLeuProAsnIleLysArgGluLeuThrAlaCysIlePheProThrGluSerGluAlaArgAlaLeuAlaLysGluArgGlnLysLysAspAsnHisAsnLeuIleGluArgArgArgArgPheAsnIleAsnAspArgIleLysGluLeuGlyThrLeuIleProLysSerAsnAspProAspMetArgTrpAsnLysGlyThrIleLeuLysAlaSerValAspTyrIleArgLysLeuGlnArgGluGlnGlnArgAlaLysGluLeuGluAsnArgGlnLysLysLeuGluHisAlaAsnArgHisLeuLeuLeuArgIleGlnGluLeuGluMetGlnAlaArgAlaHisGlyLeuSerLeuIleProSerThrGlyLeuCysSerProAspLeuValAsnArgIleIleLysGlnGluProValLeuGluAsnCysSerGlnAspLeuLeuGlnHisHisAlaAspLeuThrCysThrThrThrLeuAspLeuThrAspGlyThrIleThrPheAsnAsnAsnLeuGlyThrGlyThrGluAlaAsnGlnAlaTyrSerValProThrLysMetGlySerLysLeuGluAspIleLeuMetAspAspThrLeuSerProValGlyValThrAspProLeuLeuSerSerValSerProGlyAlaSerLysThrSerSerArgArgSerSerMetSerMetGluGluThrGluHisThrCysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS100744" }, { "coordinates": [ { "allele": "A", "end": 415, "referenceAllele": "C", "start": 414 } ], "gene": "http://reg.genome.network/gene/GN007105", "geneNCBI_id": 4286, "geneSymbol": "MITF", "hgvs": [ "XM_011533724.1:c.231C>A" ], "proteinEffect": { "hgvs": "XP_011532026.1:p.Tyr77Ter", "hgvsWellDefined": "XP_011532026.1:p.Tyr77_Cys474delinsHisIleGlnGlnAlaGlnArgGlnGlnValLysGlnTyrLeuSerThrThrLeuAlaAsnLysHisAlaAsnGlnValLeuSerLeuProCysProAsnGlnProGlyAspHisValMetProProValProGlySerSerAlaProAsnSerProMetAlaMetLeuThrLeuAsnSerAsnCysGluLysGluGlyPheTyrLysPheGluGluGlnAsnArgAlaGluSerGluCysProGlyMetAsnThrHisSerArgAlaSerCysMetGlnMetAspAspValIleAspAspIleIleSerLeuGluSerSerTyrAsnGluGluIleLeuGlyLeuMetAspProAlaLeuGlnMetAlaAsnThrLeuProValSerGlyAsnLeuIleAspLeuTyrGlyAsnGlnGlyLeuProProProGlyLeuThrIleSerAsnSerCysProAlaAsnLeuProAsnIleLysArgGluLeuThrAlaCysIlePheProThrGluSerGluAlaArgAlaLeuAlaLysGluArgGlnLysLysAspAsnHisAsnLeuIleGluArgArgArgArgPheAsnIleAsnAspArgIleLysGluLeuGlyThrLeuIleProLysSerAsnAspProAspMetArgTrpAsnLysGlyThrIleLeuLysAlaSerValAspTyrIleArgLysLeuGlnArgGluGlnGlnArgAlaLysGluLeuGluAsnArgGlnLysLysLeuGluHisAlaAsnArgHisLeuLeuLeuArgIleGlnGluLeuGluMetGlnAlaArgAlaHisGlyLeuSerLeuIleProSerThrGlyLeuCysSerProAspLeuValAsnArgIleIleLysGlnGluProValLeuGluAsnCysSerGlnAspLeuLeuGlnHisHisAlaAspLeuThrCysThrThrThrLeuAspLeuThrAspGlyThrIleThrPheAsnAsnAsnLeuGlyThrGlyThrGluAlaAsnGlnAlaTyrSerValProThrLysMetGlySerLysLeuGluAspIleLeuMetAspAspThrLeuSerProValGlyValThrAspProLeuLeuSerSerValSerProGlyAlaSerLysThrSerSerArgArgSerSerMetSerMetGluGluThrGluHisThrCysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS100745" }, { "coordinates": [ { "allele": "A", "end": 550, "referenceAllele": "C", "start": 549 } ], "gene": "http://reg.genome.network/gene/GN007105", "geneNCBI_id": 4286, "geneSymbol": "MITF", "hgvs": [ "XM_011533725.1:c.387C>A" ], "proteinEffect": { "hgvs": "XP_011532027.1:p.Tyr129Ter", "hgvsWellDefined": "XP_011532027.1:p.Tyr129_Cys470delinsHisIleGlnGlnAlaGlnArgGlnGlnGlyPheTyrLysPheGluGluGlnAsnArgAlaGluSerGluCysProGlyMetAsnThrHisSerArgAlaSerCysMetGlnMetAspAspValIleAspAspIleIleSerLeuGluSerSerTyrAsnGluGluIleLeuGlyLeuMetAspProAlaLeuGlnMetAlaAsnThrLeuProValSerGlyAsnLeuIleAspLeuTyrGlyAsnGlnGlyLeuProProProGlyLeuThrIleSerAsnSerCysProAlaAsnLeuProAsnIleLysArgGluLeuThrAlaCysIlePheProThrGluSerGluAlaArgAlaLeuAlaLysGluArgGlnLysLysAspAsnHisAsnLeuIleGluArgArgArgArgPheAsnIleAsnAspArgIleLysGluLeuGlyThrLeuIleProLysSerAsnAspProAspMetArgTrpAsnLysGlyThrIleLeuLysAlaSerValAspTyrIleArgLysLeuGlnArgGluGlnGlnArgAlaLysGluLeuGluAsnArgGlnLysLysLeuGluHisAlaAsnArgHisLeuLeuLeuArgIleGlnGluLeuGluMetGlnAlaArgAlaHisGlyLeuSerLeuIleProSerThrGlyLeuCysSerProAspLeuValAsnArgIleIleLysGlnGluProValLeuGluAsnCysSerGlnAspLeuLeuGlnHisHisAlaAspLeuThrCysThrThrThrLeuAspLeuThrAspGlyThrIleThrPheAsnAsnAsnLeuGlyThrGlyThrGluAlaAsnGlnAlaTyrSerValProThrLysMetGlySerLysLeuGluAspIleLeuMetAspAspThrLeuSerProValGlyValThrAspProLeuLeuSerSerValSerProGlyAlaSerLysThrSerSerArgArgSerSerMetSerMetGluGluThrGluHisThrCysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS100746" }, { "coordinates": [ { "allele": "A", "end": 550, "referenceAllele": "C", "start": 549 } ], "gene": "http://reg.genome.network/gene/GN007105", "geneNCBI_id": 4286, "geneSymbol": "MITF", "hgvs": [ "XM_011533726.1:c.387C>A" ], "proteinEffect": { "hgvs": "XP_011532028.1:p.Tyr129Ter", "hgvsWellDefined": "XP_011532028.1:p.Tyr129_Cys464delinsHisIleGlnGlnAlaGlnArgGlnGlnGlyPheTyrLysPheGluGluGlnAsnArgAlaGluSerGluCysProGlyMetAsnThrHisSerArgAlaSerCysMetGlnMetAspAspValIleAspAspIleIleSerLeuGluSerSerTyrAsnGluGluIleLeuGlyLeuMetAspProAlaLeuGlnMetAlaAsnThrLeuProValSerGlyAsnLeuIleAspLeuTyrGlyAsnGlnGlyLeuProProProGlyLeuThrIleSerAsnSerCysProAlaAsnLeuProAsnIleLysArgGluLeuThrGluSerGluAlaArgAlaLeuAlaLysGluArgGlnLysLysAspAsnHisAsnLeuIleGluArgArgArgArgPheAsnIleAsnAspArgIleLysGluLeuGlyThrLeuIleProLysSerAsnAspProAspMetArgTrpAsnLysGlyThrIleLeuLysAlaSerValAspTyrIleArgLysLeuGlnArgGluGlnGlnArgAlaLysGluLeuGluAsnArgGlnLysLysLeuGluHisAlaAsnArgHisLeuLeuLeuArgIleGlnGluLeuGluMetGlnAlaArgAlaHisGlyLeuSerLeuIleProSerThrGlyLeuCysSerProAspLeuValAsnArgIleIleLysGlnGluProValLeuGluAsnCysSerGlnAspLeuLeuGlnHisHisAlaAspLeuThrCysThrThrThrLeuAspLeuThrAspGlyThrIleThrPheAsnAsnAsnLeuGlyThrGlyThrGluAlaAsnGlnAlaTyrSerValProThrLysMetGlySerLysLeuGluAspIleLeuMetAspAspThrLeuSerProValGlyValThrAspProLeuLeuSerSerValSerProGlyAlaSerLysThrSerSerArgArgSerSerMetSerMetGluGluThrGluHisThrCysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS100747" }, { "@id": "http://reg.genome.network/allele/PA2827881266", "coordinates": [ { "allele": "A", "end": 550, "referenceAllele": "C", "start": 549 } ], "gene": "http://reg.genome.network/gene/GN007105", "geneNCBI_id": 4286, "geneSymbol": "MITF", "hgvs": [ "NM_001354604.1:c.387C>A" ], "proteinEffect": { "hgvs": "NP_001341533.1:p.Tyr129Ter", "hgvsWellDefined": "NP_001341533.1:p.Tyr129_Cys526delinsHisIleGlnGlnAlaGlnArgGlnGlnValLysGlnTyrLeuSerThrThrLeuAlaAsnLysHisAlaAsnGlnValLeuSerLeuProCysProAsnGlnProGlyAspHisValMetProProValProGlySerSerAlaProAsnSerProMetAlaMetLeuThrLeuAsnSerAsnCysGluLysGluGlyPheTyrLysPheGluGluGlnAsnArgAlaGluSerGluCysProGlyMetAsnThrHisSerArgAlaSerCysMetGlnMetAspAspValIleAspAspIleIleSerLeuGluSerSerTyrAsnGluGluIleLeuGlyLeuMetAspProAlaLeuGlnMetAlaAsnThrLeuProValSerGlyAsnLeuIleAspLeuTyrGlyAsnGlnGlyLeuProProProGlyLeuThrIleSerAsnSerCysProAlaAsnLeuProAsnIleLysArgGluLeuThrAlaCysIlePheProThrGluSerGluAlaArgAlaLeuAlaLysGluArgGlnLysLysAspAsnHisAsnLeuIleGluArgArgArgArgPheAsnIleAsnAspArgIleLysGluLeuGlyThrLeuIleProLysSerAsnAspProAspMetArgTrpAsnLysGlyThrIleLeuLysAlaSerValAspTyrIleArgLysLeuGlnArgGluGlnGlnArgAlaLysGluLeuGluAsnArgGlnLysLysLeuGluHisAlaAsnArgHisLeuLeuLeuArgIleGlnGluLeuGluMetGlnAlaArgAlaHisGlyLeuSerLeuIleProSerThrGlyLeuCysSerProAspLeuValAsnArgIleIleLysGlnGluProValLeuGluAsnCysSerGlnAspLeuLeuGlnHisHisAlaAspLeuThrCysThrThrThrLeuAspLeuThrAspGlyThrIleThrPheAsnAsnAsnLeuGlyThrGlyThrGluAlaAsnGlnAlaTyrSerValProThrLysMetGlySerLysLeuGluAspIleLeuMetAspAspThrLeuSerProValGlyValThrAspProLeuLeuSerSerValSerProGlyAlaSerLysThrSerSerArgArgSerSerMetSerMetGluGluThrGluHisThrCysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS522548" }, { "@id": "http://reg.genome.network/allele/PA2827881468", "coordinates": [ { "allele": "A", "end": 547, "referenceAllele": "C", "start": 546 } ], "gene": "http://reg.genome.network/gene/GN007105", "geneNCBI_id": 4286, "geneSymbol": "MITF", "hgvs": [ "NM_001354605.1:c.384C>A" ], "proteinEffect": { "hgvs": "NP_001341534.1:p.Tyr128Ter", "hgvsWellDefined": "NP_001341534.1:p.Tyr128_Cys525delinsHisIleGlnGlnAlaGlnArgGlnGlnValLysGlnTyrLeuSerThrThrLeuAlaAsnLysHisAlaAsnGlnValLeuSerLeuProCysProAsnGlnProGlyAspHisValMetProProValProGlySerSerAlaProAsnSerProMetAlaMetLeuThrLeuAsnSerAsnCysGluLysGluGlyPheTyrLysPheGluGluGlnAsnArgAlaGluSerGluCysProGlyMetAsnThrHisSerArgAlaSerCysMetGlnMetAspAspValIleAspAspIleIleSerLeuGluSerSerTyrAsnGluGluIleLeuGlyLeuMetAspProAlaLeuGlnMetAlaAsnThrLeuProValSerGlyAsnLeuIleAspLeuTyrGlyAsnGlnGlyLeuProProProGlyLeuThrIleSerAsnSerCysProAlaAsnLeuProAsnIleLysArgGluLeuThrAlaCysIlePheProThrGluSerGluAlaArgAlaLeuAlaLysGluArgGlnLysLysAspAsnHisAsnLeuIleGluArgArgArgArgPheAsnIleAsnAspArgIleLysGluLeuGlyThrLeuIleProLysSerAsnAspProAspMetArgTrpAsnLysGlyThrIleLeuLysAlaSerValAspTyrIleArgLysLeuGlnArgGluGlnGlnArgAlaLysGluLeuGluAsnArgGlnLysLysLeuGluHisAlaAsnArgHisLeuLeuLeuArgIleGlnGluLeuGluMetGlnAlaArgAlaHisGlyLeuSerLeuIleProSerThrGlyLeuCysSerProAspLeuValAsnArgIleIleLysGlnGluProValLeuGluAsnCysSerGlnAspLeuLeuGlnHisHisAlaAspLeuThrCysThrThrThrLeuAspLeuThrAspGlyThrIleThrPheAsnAsnAsnLeuGlyThrGlyThrGluAlaAsnGlnAlaTyrSerValProThrLysMetGlySerLysLeuGluAspIleLeuMetAspAspThrLeuSerProValGlyValThrAspProLeuLeuSerSerValSerProGlyAlaSerLysThrSerSerArgArgSerSerMetSerMetGluGluThrGluHisThrCysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS522549" }, { "@id": "http://reg.genome.network/allele/PA2827881841", "coordinates": [ { "allele": "A", "end": 547, "referenceAllele": "C", "start": 546 } ], "gene": "http://reg.genome.network/gene/GN007105", "geneNCBI_id": 4286, "geneSymbol": "MITF", "hgvs": [ "NM_001354606.1:c.384C>A" ], "proteinEffect": { "hgvs": "NP_001341535.1:p.Tyr128Ter", "hgvsWellDefined": "NP_001341535.1:p.Tyr128_Cys519delinsHisIleGlnGlnAlaGlnArgGlnGlnValLysGlnTyrLeuSerThrThrLeuAlaAsnLysHisAlaAsnGlnValLeuSerLeuProCysProAsnGlnProGlyAspHisValMetProProValProGlySerSerAlaProAsnSerProMetAlaMetLeuThrLeuAsnSerAsnCysGluLysGluGlyPheTyrLysPheGluGluGlnAsnArgAlaGluSerGluCysProGlyMetAsnThrHisSerArgAlaSerCysMetGlnMetAspAspValIleAspAspIleIleSerLeuGluSerSerTyrAsnGluGluIleLeuGlyLeuMetAspProAlaLeuGlnMetAlaAsnThrLeuProValSerGlyAsnLeuIleAspLeuTyrGlyAsnGlnGlyLeuProProProGlyLeuThrIleSerAsnSerCysProAlaAsnLeuProAsnIleLysArgGluLeuThrGluSerGluAlaArgAlaLeuAlaLysGluArgGlnLysLysAspAsnHisAsnLeuIleGluArgArgArgArgPheAsnIleAsnAspArgIleLysGluLeuGlyThrLeuIleProLysSerAsnAspProAspMetArgTrpAsnLysGlyThrIleLeuLysAlaSerValAspTyrIleArgLysLeuGlnArgGluGlnGlnArgAlaLysGluLeuGluAsnArgGlnLysLysLeuGluHisAlaAsnArgHisLeuLeuLeuArgIleGlnGluLeuGluMetGlnAlaArgAlaHisGlyLeuSerLeuIleProSerThrGlyLeuCysSerProAspLeuValAsnArgIleIleLysGlnGluProValLeuGluAsnCysSerGlnAspLeuLeuGlnHisHisAlaAspLeuThrCysThrThrThrLeuAspLeuThrAspGlyThrIleThrPheAsnAsnAsnLeuGlyThrGlyThrGluAlaAsnGlnAlaTyrSerValProThrLysMetGlySerLysLeuGluAspIleLeuMetAspAspThrLeuSerProValGlyValThrAspProLeuLeuSerSerValSerProGlyAlaSerLysThrSerSerArgArgSerSerMetSerMetGluGluThrGluHisThrCysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS522550" }, { "@id": "http://reg.genome.network/allele/PA2827882208", "coordinates": [ { "allele": "A", "end": 679, "referenceAllele": "C", "start": 678 } ], "gene": "http://reg.genome.network/gene/GN007105", "geneNCBI_id": 4286, "geneSymbol": "MITF", "hgvs": [ "NM_001354607.1:c.336C>A" ], "proteinEffect": { "hgvs": "NP_001341536.1:p.Tyr112Ter", "hgvsWellDefined": "NP_001341536.1:p.Tyr112_Cys503delinsHisIleGlnGlnAlaGlnArgGlnGlnValLysGlnTyrLeuSerThrThrLeuAlaAsnLysHisAlaAsnGlnValLeuSerLeuProCysProAsnGlnProGlyAspHisValMetProProValProGlySerSerAlaProAsnSerProMetAlaMetLeuThrLeuAsnSerAsnCysGluLysGluGlyPheTyrLysPheGluGluGlnAsnArgAlaGluSerGluCysProGlyMetAsnThrHisSerArgAlaSerCysMetGlnMetAspAspValIleAspAspIleIleSerLeuGluSerSerTyrAsnGluGluIleLeuGlyLeuMetAspProAlaLeuGlnMetAlaAsnThrLeuProValSerGlyAsnLeuIleAspLeuTyrGlyAsnGlnGlyLeuProProProGlyLeuThrIleSerAsnSerCysProAlaAsnLeuProAsnIleLysArgGluLeuThrGluSerGluAlaArgAlaLeuAlaLysGluArgGlnLysLysAspAsnHisAsnLeuIleGluArgArgArgArgPheAsnIleAsnAspArgIleLysGluLeuGlyThrLeuIleProLysSerAsnAspProAspMetArgTrpAsnLysGlyThrIleLeuLysAlaSerValAspTyrIleArgLysLeuGlnArgGluGlnGlnArgAlaLysGluLeuGluAsnArgGlnLysLysLeuGluHisAlaAsnArgHisLeuLeuLeuArgIleGlnGluLeuGluMetGlnAlaArgAlaHisGlyLeuSerLeuIleProSerThrGlyLeuCysSerProAspLeuValAsnArgIleIleLysGlnGluProValLeuGluAsnCysSerGlnAspLeuLeuGlnHisHisAlaAspLeuThrCysThrThrThrLeuAspLeuThrAspGlyThrIleThrPheAsnAsnAsnLeuGlyThrGlyThrGluAlaAsnGlnAlaTyrSerValProThrLysMetGlySerLysLeuGluAspIleLeuMetAspAspThrLeuSerProValGlyValThrAspProLeuLeuSerSerValSerProGlyAlaSerLysThrSerSerArgArgSerSerMetSerMetGluGluThrGluHisThrCysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS522551" }, { "@id": "http://reg.genome.network/allele/PA2573206477", "coordinates": [ { "allele": "A", "end": 589, "referenceAllele": "C", "start": 588 } ], "gene": "http://reg.genome.network/gene/GN007105", "geneNCBI_id": 4286, "geneSymbol": "MITF", "hgvs": [ "NM_001354608.1:c.231C>A" ], "proteinEffect": { "hgvs": "NP_001341537.1:p.Tyr77Ter", "hgvsWellDefined": "NP_001341537.1:p.Tyr77_Cys468delinsHisIleGlnGlnAlaGlnArgGlnGlnValLysGlnTyrLeuSerThrThrLeuAlaAsnLysHisAlaAsnGlnValLeuSerLeuProCysProAsnGlnProGlyAspHisValMetProProValProGlySerSerAlaProAsnSerProMetAlaMetLeuThrLeuAsnSerAsnCysGluLysGluGlyPheTyrLysPheGluGluGlnAsnArgAlaGluSerGluCysProGlyMetAsnThrHisSerArgAlaSerCysMetGlnMetAspAspValIleAspAspIleIleSerLeuGluSerSerTyrAsnGluGluIleLeuGlyLeuMetAspProAlaLeuGlnMetAlaAsnThrLeuProValSerGlyAsnLeuIleAspLeuTyrGlyAsnGlnGlyLeuProProProGlyLeuThrIleSerAsnSerCysProAlaAsnLeuProAsnIleLysArgGluLeuThrGluSerGluAlaArgAlaLeuAlaLysGluArgGlnLysLysAspAsnHisAsnLeuIleGluArgArgArgArgPheAsnIleAsnAspArgIleLysGluLeuGlyThrLeuIleProLysSerAsnAspProAspMetArgTrpAsnLysGlyThrIleLeuLysAlaSerValAspTyrIleArgLysLeuGlnArgGluGlnGlnArgAlaLysGluLeuGluAsnArgGlnLysLysLeuGluHisAlaAsnArgHisLeuLeuLeuArgIleGlnGluLeuGluMetGlnAlaArgAlaHisGlyLeuSerLeuIleProSerThrGlyLeuCysSerProAspLeuValAsnArgIleIleLysGlnGluProValLeuGluAsnCysSerGlnAspLeuLeuGlnHisHisAlaAspLeuThrCysThrThrThrLeuAspLeuThrAspGlyThrIleThrPheAsnAsnAsnLeuGlyThrGlyThrGluAlaAsnGlnAlaTyrSerValProThrLysMetGlySerLysLeuGluAspIleLeuMetAspAspThrLeuSerProValGlyValThrAspProLeuLeuSerSerValSerProGlyAlaSerLysThrSerSerArgArgSerSerMetSerMetGluGluThrGluHisThrCysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS522552" }, { "@id": "http://reg.genome.network/allele/PA2826151240", "coordinates": [ { "allele": "A", "end": 472, "referenceAllele": "C", "start": 471 } ], "gene": "http://reg.genome.network/gene/GN007105", "geneNCBI_id": 4286, "geneSymbol": "MITF", "hgvs": [ "NM_001184967.2:c.231C>A" ], "proteinEffect": { "hgvs": "NP_001171896.1:p.Tyr77Ter", "hgvsWellDefined": "NP_001171896.1:p.Tyr77_Cys468delinsHisIleGlnGlnAlaGlnArgGlnGlnValLysGlnTyrLeuSerThrThrLeuAlaAsnLysHisAlaAsnGlnValLeuSerLeuProCysProAsnGlnProGlyAspHisValMetProProValProGlySerSerAlaProAsnSerProMetAlaMetLeuThrLeuAsnSerAsnCysGluLysGluGlyPheTyrLysPheGluGluGlnAsnArgAlaGluSerGluCysProGlyMetAsnThrHisSerArgAlaSerCysMetGlnMetAspAspValIleAspAspIleIleSerLeuGluSerSerTyrAsnGluGluIleLeuGlyLeuMetAspProAlaLeuGlnMetAlaAsnThrLeuProValSerGlyAsnLeuIleAspLeuTyrGlyAsnGlnGlyLeuProProProGlyLeuThrIleSerAsnSerCysProAlaAsnLeuProAsnIleLysArgGluLeuThrGluSerGluAlaArgAlaLeuAlaLysGluArgGlnLysLysAspAsnHisAsnLeuIleGluArgArgArgArgPheAsnIleAsnAspArgIleLysGluLeuGlyThrLeuIleProLysSerAsnAspProAspMetArgTrpAsnLysGlyThrIleLeuLysAlaSerValAspTyrIleArgLysLeuGlnArgGluGlnGlnArgAlaLysGluLeuGluAsnArgGlnLysLysLeuGluHisAlaAsnArgHisLeuLeuLeuArgIleGlnGluLeuGluMetGlnAlaArgAlaHisGlyLeuSerLeuIleProSerThrGlyLeuCysSerProAspLeuValAsnArgIleIleLysGlnGluProValLeuGluAsnCysSerGlnAspLeuLeuGlnHisHisAlaAspLeuThrCysThrThrThrLeuAspLeuThrAspGlyThrIleThrPheAsnAsnAsnLeuGlyThrGlyThrGluAlaAsnGlnAlaTyrSerValProThrLysMetGlySerLysLeuGluAspIleLeuMetAspAspThrLeuSerProValGlyValThrAspProLeuLeuSerSerValSerProGlyAlaSerLysThrSerSerArgArgSerSerMetSerMetGluGluThrGluHisThrCysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS679051" }, { "@id": "http://reg.genome.network/allele/PA2826151606", "coordinates": [ { "allele": "A", "end": 197, "referenceAllele": "C", "start": 196 } ], "gene": "http://reg.genome.network/gene/GN007105", "geneNCBI_id": 4286, "geneSymbol": "MITF", "hgvs": [ "NM_001184968.2:c.66C>A" ], "proteinEffect": { "hgvs": "NP_001171897.1:p.Tyr22Ter", "hgvsWellDefined": "NP_001171897.1:p.Tyr22_Gln91delinsHisIleGlnGlnAlaGlnArgGlnGlnValLysGlnTyrLeuSerThrThrLeuAlaAsnLysHisAlaAsnGlnValLeuSerLeuProCysProAsnGlnProGlyAspHisValMetProProValProGlySerSerAlaProAsnSerProMetAlaMetLeuThrLeuAsnSerAsnCysGluLysGluPheMetLysGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS679052" }, { "@id": "http://reg.genome.network/allele/PA2827881266", "coordinates": [ { "allele": "A", "end": 521, "referenceAllele": "C", "start": 520 } ], "gene": "http://reg.genome.network/gene/GN007105", "geneNCBI_id": 4286, "geneSymbol": "MITF", "hgvs": [ "NM_001354604.2:c.387C>A" ], "proteinEffect": { "hgvs": "NP_001341533.1:p.Tyr129Ter", "hgvsWellDefined": "NP_001341533.1:p.Tyr129_Cys526delinsHisIleGlnGlnAlaGlnArgGlnGlnValLysGlnTyrLeuSerThrThrLeuAlaAsnLysHisAlaAsnGlnValLeuSerLeuProCysProAsnGlnProGlyAspHisValMetProProValProGlySerSerAlaProAsnSerProMetAlaMetLeuThrLeuAsnSerAsnCysGluLysGluGlyPheTyrLysPheGluGluGlnAsnArgAlaGluSerGluCysProGlyMetAsnThrHisSerArgAlaSerCysMetGlnMetAspAspValIleAspAspIleIleSerLeuGluSerSerTyrAsnGluGluIleLeuGlyLeuMetAspProAlaLeuGlnMetAlaAsnThrLeuProValSerGlyAsnLeuIleAspLeuTyrGlyAsnGlnGlyLeuProProProGlyLeuThrIleSerAsnSerCysProAlaAsnLeuProAsnIleLysArgGluLeuThrAlaCysIlePheProThrGluSerGluAlaArgAlaLeuAlaLysGluArgGlnLysLysAspAsnHisAsnLeuIleGluArgArgArgArgPheAsnIleAsnAspArgIleLysGluLeuGlyThrLeuIleProLysSerAsnAspProAspMetArgTrpAsnLysGlyThrIleLeuLysAlaSerValAspTyrIleArgLysLeuGlnArgGluGlnGlnArgAlaLysGluLeuGluAsnArgGlnLysLysLeuGluHisAlaAsnArgHisLeuLeuLeuArgIleGlnGluLeuGluMetGlnAlaArgAlaHisGlyLeuSerLeuIleProSerThrGlyLeuCysSerProAspLeuValAsnArgIleIleLysGlnGluProValLeuGluAsnCysSerGlnAspLeuLeuGlnHisHisAlaAspLeuThrCysThrThrThrLeuAspLeuThrAspGlyThrIleThrPheAsnAsnAsnLeuGlyThrGlyThrGluAlaAsnGlnAlaTyrSerValProThrLysMetGlySerLysLeuGluAspIleLeuMetAspAspThrLeuSerProValGlyValThrAspProLeuLeuSerSerValSerProGlyAlaSerLysThrSerSerArgArgSerSerMetSerMetGluGluThrGluHisThrCysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS690248", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000352241.9:c.387C>A" }, "RefSeq": { "hgvs": "NM_001354604.2:c.387C>A" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000295600.8:p.Tyr129Ter" }, "RefSeq": { "hgvs": "NP_001341533.1:p.Tyr129Ter" } } } }, { "@id": "http://reg.genome.network/allele/PA2827881468", "coordinates": [ { "allele": "A", "end": 518, "referenceAllele": "C", "start": 517 } ], "gene": "http://reg.genome.network/gene/GN007105", "geneNCBI_id": 4286, "geneSymbol": "MITF", "hgvs": [ "NM_001354605.2:c.384C>A" ], "proteinEffect": { "hgvs": "NP_001341534.1:p.Tyr128Ter", "hgvsWellDefined": "NP_001341534.1:p.Tyr128_Cys525delinsHisIleGlnGlnAlaGlnArgGlnGlnValLysGlnTyrLeuSerThrThrLeuAlaAsnLysHisAlaAsnGlnValLeuSerLeuProCysProAsnGlnProGlyAspHisValMetProProValProGlySerSerAlaProAsnSerProMetAlaMetLeuThrLeuAsnSerAsnCysGluLysGluGlyPheTyrLysPheGluGluGlnAsnArgAlaGluSerGluCysProGlyMetAsnThrHisSerArgAlaSerCysMetGlnMetAspAspValIleAspAspIleIleSerLeuGluSerSerTyrAsnGluGluIleLeuGlyLeuMetAspProAlaLeuGlnMetAlaAsnThrLeuProValSerGlyAsnLeuIleAspLeuTyrGlyAsnGlnGlyLeuProProProGlyLeuThrIleSerAsnSerCysProAlaAsnLeuProAsnIleLysArgGluLeuThrAlaCysIlePheProThrGluSerGluAlaArgAlaLeuAlaLysGluArgGlnLysLysAspAsnHisAsnLeuIleGluArgArgArgArgPheAsnIleAsnAspArgIleLysGluLeuGlyThrLeuIleProLysSerAsnAspProAspMetArgTrpAsnLysGlyThrIleLeuLysAlaSerValAspTyrIleArgLysLeuGlnArgGluGlnGlnArgAlaLysGluLeuGluAsnArgGlnLysLysLeuGluHisAlaAsnArgHisLeuLeuLeuArgIleGlnGluLeuGluMetGlnAlaArgAlaHisGlyLeuSerLeuIleProSerThrGlyLeuCysSerProAspLeuValAsnArgIleIleLysGlnGluProValLeuGluAsnCysSerGlnAspLeuLeuGlnHisHisAlaAspLeuThrCysThrThrThrLeuAspLeuThrAspGlyThrIleThrPheAsnAsnAsnLeuGlyThrGlyThrGluAlaAsnGlnAlaTyrSerValProThrLysMetGlySerLysLeuGluAspIleLeuMetAspAspThrLeuSerProValGlyValThrAspProLeuLeuSerSerValSerProGlyAlaSerLysThrSerSerArgArgSerSerMetSerMetGluGluThrGluHisThrCysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS690249" }, { "@id": "http://reg.genome.network/allele/PA2827881841", "coordinates": [ { "allele": "A", "end": 518, "referenceAllele": "C", "start": 517 } ], "gene": "http://reg.genome.network/gene/GN007105", "geneNCBI_id": 4286, "geneSymbol": "MITF", "hgvs": [ "NM_001354606.2:c.384C>A" ], "proteinEffect": { "hgvs": "NP_001341535.1:p.Tyr128Ter", "hgvsWellDefined": "NP_001341535.1:p.Tyr128_Cys519delinsHisIleGlnGlnAlaGlnArgGlnGlnValLysGlnTyrLeuSerThrThrLeuAlaAsnLysHisAlaAsnGlnValLeuSerLeuProCysProAsnGlnProGlyAspHisValMetProProValProGlySerSerAlaProAsnSerProMetAlaMetLeuThrLeuAsnSerAsnCysGluLysGluGlyPheTyrLysPheGluGluGlnAsnArgAlaGluSerGluCysProGlyMetAsnThrHisSerArgAlaSerCysMetGlnMetAspAspValIleAspAspIleIleSerLeuGluSerSerTyrAsnGluGluIleLeuGlyLeuMetAspProAlaLeuGlnMetAlaAsnThrLeuProValSerGlyAsnLeuIleAspLeuTyrGlyAsnGlnGlyLeuProProProGlyLeuThrIleSerAsnSerCysProAlaAsnLeuProAsnIleLysArgGluLeuThrGluSerGluAlaArgAlaLeuAlaLysGluArgGlnLysLysAspAsnHisAsnLeuIleGluArgArgArgArgPheAsnIleAsnAspArgIleLysGluLeuGlyThrLeuIleProLysSerAsnAspProAspMetArgTrpAsnLysGlyThrIleLeuLysAlaSerValAspTyrIleArgLysLeuGlnArgGluGlnGlnArgAlaLysGluLeuGluAsnArgGlnLysLysLeuGluHisAlaAsnArgHisLeuLeuLeuArgIleGlnGluLeuGluMetGlnAlaArgAlaHisGlyLeuSerLeuIleProSerThrGlyLeuCysSerProAspLeuValAsnArgIleIleLysGlnGluProValLeuGluAsnCysSerGlnAspLeuLeuGlnHisHisAlaAspLeuThrCysThrThrThrLeuAspLeuThrAspGlyThrIleThrPheAsnAsnAsnLeuGlyThrGlyThrGluAlaAsnGlnAlaTyrSerValProThrLysMetGlySerLysLeuGluAspIleLeuMetAspAspThrLeuSerProValGlyValThrAspProLeuLeuSerSerValSerProGlyAlaSerLysThrSerSerArgArgSerSerMetSerMetGluGluThrGluHisThrCysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS690250" }, { "@id": "http://reg.genome.network/allele/PA2827882208", "coordinates": [ { "allele": "A", "end": 650, "referenceAllele": "C", "start": 649 } ], "gene": "http://reg.genome.network/gene/GN007105", "geneNCBI_id": 4286, "geneSymbol": "MITF", "hgvs": [ "NM_001354607.2:c.336C>A" ], "proteinEffect": { "hgvs": "NP_001341536.1:p.Tyr112Ter", "hgvsWellDefined": "NP_001341536.1:p.Tyr112_Cys503delinsHisIleGlnGlnAlaGlnArgGlnGlnValLysGlnTyrLeuSerThrThrLeuAlaAsnLysHisAlaAsnGlnValLeuSerLeuProCysProAsnGlnProGlyAspHisValMetProProValProGlySerSerAlaProAsnSerProMetAlaMetLeuThrLeuAsnSerAsnCysGluLysGluGlyPheTyrLysPheGluGluGlnAsnArgAlaGluSerGluCysProGlyMetAsnThrHisSerArgAlaSerCysMetGlnMetAspAspValIleAspAspIleIleSerLeuGluSerSerTyrAsnGluGluIleLeuGlyLeuMetAspProAlaLeuGlnMetAlaAsnThrLeuProValSerGlyAsnLeuIleAspLeuTyrGlyAsnGlnGlyLeuProProProGlyLeuThrIleSerAsnSerCysProAlaAsnLeuProAsnIleLysArgGluLeuThrGluSerGluAlaArgAlaLeuAlaLysGluArgGlnLysLysAspAsnHisAsnLeuIleGluArgArgArgArgPheAsnIleAsnAspArgIleLysGluLeuGlyThrLeuIleProLysSerAsnAspProAspMetArgTrpAsnLysGlyThrIleLeuLysAlaSerValAspTyrIleArgLysLeuGlnArgGluGlnGlnArgAlaLysGluLeuGluAsnArgGlnLysLysLeuGluHisAlaAsnArgHisLeuLeuLeuArgIleGlnGluLeuGluMetGlnAlaArgAlaHisGlyLeuSerLeuIleProSerThrGlyLeuCysSerProAspLeuValAsnArgIleIleLysGlnGluProValLeuGluAsnCysSerGlnAspLeuLeuGlnHisHisAlaAspLeuThrCysThrThrThrLeuAspLeuThrAspGlyThrIleThrPheAsnAsnAsnLeuGlyThrGlyThrGluAlaAsnGlnAlaTyrSerValProThrLysMetGlySerLysLeuGluAspIleLeuMetAspAspThrLeuSerProValGlyValThrAspProLeuLeuSerSerValSerProGlyAlaSerLysThrSerSerArgArgSerSerMetSerMetGluGluThrGluHisThrCysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS690251" }, { "@id": "http://reg.genome.network/allele/PA2573206477", "coordinates": [ { "allele": "A", "end": 560, "referenceAllele": "C", "start": 559 } ], "gene": "http://reg.genome.network/gene/GN007105", "geneNCBI_id": 4286, "geneSymbol": "MITF", "hgvs": [ "NM_001354608.2:c.231C>A" ], "proteinEffect": { "hgvs": "NP_001341537.1:p.Tyr77Ter", "hgvsWellDefined": "NP_001341537.1:p.Tyr77_Cys468delinsHisIleGlnGlnAlaGlnArgGlnGlnValLysGlnTyrLeuSerThrThrLeuAlaAsnLysHisAlaAsnGlnValLeuSerLeuProCysProAsnGlnProGlyAspHisValMetProProValProGlySerSerAlaProAsnSerProMetAlaMetLeuThrLeuAsnSerAsnCysGluLysGluGlyPheTyrLysPheGluGluGlnAsnArgAlaGluSerGluCysProGlyMetAsnThrHisSerArgAlaSerCysMetGlnMetAspAspValIleAspAspIleIleSerLeuGluSerSerTyrAsnGluGluIleLeuGlyLeuMetAspProAlaLeuGlnMetAlaAsnThrLeuProValSerGlyAsnLeuIleAspLeuTyrGlyAsnGlnGlyLeuProProProGlyLeuThrIleSerAsnSerCysProAlaAsnLeuProAsnIleLysArgGluLeuThrGluSerGluAlaArgAlaLeuAlaLysGluArgGlnLysLysAspAsnHisAsnLeuIleGluArgArgArgArgPheAsnIleAsnAspArgIleLysGluLeuGlyThrLeuIleProLysSerAsnAspProAspMetArgTrpAsnLysGlyThrIleLeuLysAlaSerValAspTyrIleArgLysLeuGlnArgGluGlnGlnArgAlaLysGluLeuGluAsnArgGlnLysLysLeuGluHisAlaAsnArgHisLeuLeuLeuArgIleGlnGluLeuGluMetGlnAlaArgAlaHisGlyLeuSerLeuIleProSerThrGlyLeuCysSerProAspLeuValAsnArgIleIleLysGlnGluProValLeuGluAsnCysSerGlnAspLeuLeuGlnHisHisAlaAspLeuThrCysThrThrThrLeuAspLeuThrAspGlyThrIleThrPheAsnAsnAsnLeuGlyThrGlyThrGluAlaAsnGlnAlaTyrSerValProThrLysMetGlySerLysLeuGluAspIleLeuMetAspAspThrLeuSerProValGlyValThrAspProLeuLeuSerSerValSerProGlyAlaSerLysThrSerSerArgArgSerSerMetSerMetGluGluThrGluHisThrCysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS690252" }, { "@id": "http://reg.genome.network/allele/PA2830431101", "coordinates": [ { "allele": "A", "end": 197, "referenceAllele": "C", "start": 196 } ], "gene": "http://reg.genome.network/gene/GN007105", "geneNCBI_id": 4286, "geneSymbol": "MITF", "hgvs": [ "NM_198158.3:c.66C>A" ], "proteinEffect": { "hgvs": "NP_937801.1:p.Tyr22Ter", "hgvsWellDefined": "NP_937801.1:p.Tyr22_Cys413delinsHisIleGlnGlnAlaGlnArgGlnGlnValLysGlnTyrLeuSerThrThrLeuAlaAsnLysHisAlaAsnGlnValLeuSerLeuProCysProAsnGlnProGlyAspHisValMetProProValProGlySerSerAlaProAsnSerProMetAlaMetLeuThrLeuAsnSerAsnCysGluLysGluGlyPheTyrLysPheGluGluGlnAsnArgAlaGluSerGluCysProGlyMetAsnThrHisSerArgAlaSerCysMetGlnMetAspAspValIleAspAspIleIleSerLeuGluSerSerTyrAsnGluGluIleLeuGlyLeuMetAspProAlaLeuGlnMetAlaAsnThrLeuProValSerGlyAsnLeuIleAspLeuTyrGlyAsnGlnGlyLeuProProProGlyLeuThrIleSerAsnSerCysProAlaAsnLeuProAsnIleLysArgGluLeuThrGluSerGluAlaArgAlaLeuAlaLysGluArgGlnLysLysAspAsnHisAsnLeuIleGluArgArgArgArgPheAsnIleAsnAspArgIleLysGluLeuGlyThrLeuIleProLysSerAsnAspProAspMetArgTrpAsnLysGlyThrIleLeuLysAlaSerValAspTyrIleArgLysLeuGlnArgGluGlnGlnArgAlaLysGluLeuGluAsnArgGlnLysLysLeuGluHisAlaAsnArgHisLeuLeuLeuArgIleGlnGluLeuGluMetGlnAlaArgAlaHisGlyLeuSerLeuIleProSerThrGlyLeuCysSerProAspLeuValAsnArgIleIleLysGlnGluProValLeuGluAsnCysSerGlnAspLeuLeuGlnHisHisAlaAspLeuThrCysThrThrThrLeuAspLeuThrAspGlyThrIleThrPheAsnAsnAsnLeuGlyThrGlyThrGluAlaAsnGlnAlaTyrSerValProThrLysMetGlySerLysLeuGluAspIleLeuMetAspAspThrLeuSerProValGlyValThrAspProLeuLeuSerSerValSerProGlyAlaSerLysThrSerSerArgArgSerSerMetSerMetGluGluThrGluHisThrCysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS701263" }, { "@id": "http://reg.genome.network/allele/PA2830431639", "coordinates": [ { "allele": "A", "end": 521, "referenceAllele": "C", "start": 520 } ], "gene": "http://reg.genome.network/gene/GN007105", "geneNCBI_id": 4286, "geneSymbol": "MITF", "hgvs": [ "NM_198159.3:c.387C>A" ], "proteinEffect": { "hgvs": "NP_937802.1:p.Tyr129Ter", "hgvsWellDefined": "NP_937802.1:p.Tyr129_Cys520delinsHisIleGlnGlnAlaGlnArgGlnGlnValLysGlnTyrLeuSerThrThrLeuAlaAsnLysHisAlaAsnGlnValLeuSerLeuProCysProAsnGlnProGlyAspHisValMetProProValProGlySerSerAlaProAsnSerProMetAlaMetLeuThrLeuAsnSerAsnCysGluLysGluGlyPheTyrLysPheGluGluGlnAsnArgAlaGluSerGluCysProGlyMetAsnThrHisSerArgAlaSerCysMetGlnMetAspAspValIleAspAspIleIleSerLeuGluSerSerTyrAsnGluGluIleLeuGlyLeuMetAspProAlaLeuGlnMetAlaAsnThrLeuProValSerGlyAsnLeuIleAspLeuTyrGlyAsnGlnGlyLeuProProProGlyLeuThrIleSerAsnSerCysProAlaAsnLeuProAsnIleLysArgGluLeuThrGluSerGluAlaArgAlaLeuAlaLysGluArgGlnLysLysAspAsnHisAsnLeuIleGluArgArgArgArgPheAsnIleAsnAspArgIleLysGluLeuGlyThrLeuIleProLysSerAsnAspProAspMetArgTrpAsnLysGlyThrIleLeuLysAlaSerValAspTyrIleArgLysLeuGlnArgGluGlnGlnArgAlaLysGluLeuGluAsnArgGlnLysLysLeuGluHisAlaAsnArgHisLeuLeuLeuArgIleGlnGluLeuGluMetGlnAlaArgAlaHisGlyLeuSerLeuIleProSerThrGlyLeuCysSerProAspLeuValAsnArgIleIleLysGlnGluProValLeuGluAsnCysSerGlnAspLeuLeuGlnHisHisAlaAspLeuThrCysThrThrThrLeuAspLeuThrAspGlyThrIleThrPheAsnAsnAsnLeuGlyThrGlyThrGluAlaAsnGlnAlaTyrSerValProThrLysMetGlySerLysLeuGluAspIleLeuMetAspAspThrLeuSerProValGlyValThrAspProLeuLeuSerSerValSerProGlyAlaSerLysThrSerSerArgArgSerSerMetSerMetGluGluThrGluHisThrCysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS701264" }, { "@id": "http://reg.genome.network/allele/PA2830432540", "coordinates": [ { "allele": "A", "end": 406, "referenceAllele": "C", "start": 405 } ], "gene": "http://reg.genome.network/gene/GN007105", "geneNCBI_id": 4286, "geneSymbol": "MITF", "hgvs": [ "NM_198177.3:c.339C>A" ], "proteinEffect": { "hgvs": "NP_937820.1:p.Tyr113Ter", "hgvsWellDefined": "NP_937820.1:p.Tyr113_Cys504delinsHisIleGlnGlnAlaGlnArgGlnGlnValLysGlnTyrLeuSerThrThrLeuAlaAsnLysHisAlaAsnGlnValLeuSerLeuProCysProAsnGlnProGlyAspHisValMetProProValProGlySerSerAlaProAsnSerProMetAlaMetLeuThrLeuAsnSerAsnCysGluLysGluGlyPheTyrLysPheGluGluGlnAsnArgAlaGluSerGluCysProGlyMetAsnThrHisSerArgAlaSerCysMetGlnMetAspAspValIleAspAspIleIleSerLeuGluSerSerTyrAsnGluGluIleLeuGlyLeuMetAspProAlaLeuGlnMetAlaAsnThrLeuProValSerGlyAsnLeuIleAspLeuTyrGlyAsnGlnGlyLeuProProProGlyLeuThrIleSerAsnSerCysProAlaAsnLeuProAsnIleLysArgGluLeuThrGluSerGluAlaArgAlaLeuAlaLysGluArgGlnLysLysAspAsnHisAsnLeuIleGluArgArgArgArgPheAsnIleAsnAspArgIleLysGluLeuGlyThrLeuIleProLysSerAsnAspProAspMetArgTrpAsnLysGlyThrIleLeuLysAlaSerValAspTyrIleArgLysLeuGlnArgGluGlnGlnArgAlaLysGluLeuGluAsnArgGlnLysLysLeuGluHisAlaAsnArgHisLeuLeuLeuArgIleGlnGluLeuGluMetGlnAlaArgAlaHisGlyLeuSerLeuIleProSerThrGlyLeuCysSerProAspLeuValAsnArgIleIleLysGlnGluProValLeuGluAsnCysSerGlnAspLeuLeuGlnHisHisAlaAspLeuThrCysThrThrThrLeuAspLeuThrAspGlyThrIleThrPheAsnAsnAsnLeuGlyThrGlyThrGluAlaAsnGlnAlaTyrSerValProThrLysMetGlySerLysLeuGluAspIleLeuMetAspAspThrLeuSerProValGlyValThrAspProLeuLeuSerSerValSerProGlyAlaSerLysThrSerSerArgArgSerSerMetSerMetGluGluThrGluHisThrCysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS701267" }, { "@id": "http://reg.genome.network/allele/PA2830433243", "coordinates": [ { "allele": "A", "end": 197, "referenceAllele": "C", "start": 196 } ], "gene": "http://reg.genome.network/gene/GN007105", "geneNCBI_id": 4286, "geneSymbol": "MITF", "hgvs": [ "NM_198178.3:c.66C>A" ], "proteinEffect": { "hgvs": "NP_937821.2:p.Tyr22Ter", "hgvsWellDefined": "NP_937821.2:p.Tyr22_Cys357delinsHisIleGlnGlnAlaGlnArgGlnGlnGlyPheTyrLysPheGluGluGlnAsnArgAlaGluSerGluCysProGlyMetAsnThrHisSerArgAlaSerCysMetGlnMetAspAspValIleAspAspIleIleSerLeuGluSerSerTyrAsnGluGluIleLeuGlyLeuMetAspProAlaLeuGlnMetAlaAsnThrLeuProValSerGlyAsnLeuIleAspLeuTyrGlyAsnGlnGlyLeuProProProGlyLeuThrIleSerAsnSerCysProAlaAsnLeuProAsnIleLysArgGluLeuThrGluSerGluAlaArgAlaLeuAlaLysGluArgGlnLysLysAspAsnHisAsnLeuIleGluArgArgArgArgPheAsnIleAsnAspArgIleLysGluLeuGlyThrLeuIleProLysSerAsnAspProAspMetArgTrpAsnLysGlyThrIleLeuLysAlaSerValAspTyrIleArgLysLeuGlnArgGluGlnGlnArgAlaLysGluLeuGluAsnArgGlnLysLysLeuGluHisAlaAsnArgHisLeuLeuLeuArgIleGlnGluLeuGluMetGlnAlaArgAlaHisGlyLeuSerLeuIleProSerThrGlyLeuCysSerProAspLeuValAsnArgIleIleLysGlnGluProValLeuGluAsnCysSerGlnAspLeuLeuGlnHisHisAlaAspLeuThrCysThrThrThrLeuAspLeuThrAspGlyThrIleThrPheAsnAsnAsnLeuGlyThrGlyThrGluAlaAsnGlnAlaTyrSerValProThrLysMetGlySerLysLeuGluAspIleLeuMetAspAspThrLeuSerProValGlyValThrAspProLeuLeuSerSerValSerProGlyAlaSerLysThrSerSerArgArgSerSerMetSerMetGluGluThrGluHisThrCysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS701268" }, { "@id": "http://reg.genome.network/allele/PA2825105432", "coordinates": [ { "allele": "A", "end": 197, "referenceAllele": "C", "start": 196 } ], "gene": "http://reg.genome.network/gene/GN007105", "geneNCBI_id": 4286, "geneSymbol": "MITF", "hgvs": [ "NM_000248.4:c.66C>A" ], "proteinEffect": { "hgvs": "NP_000239.1:p.Tyr22Ter", "hgvsWellDefined": "NP_000239.1:p.Tyr22_Cys419delinsHisIleGlnGlnAlaGlnArgGlnGlnValLysGlnTyrLeuSerThrThrLeuAlaAsnLysHisAlaAsnGlnValLeuSerLeuProCysProAsnGlnProGlyAspHisValMetProProValProGlySerSerAlaProAsnSerProMetAlaMetLeuThrLeuAsnSerAsnCysGluLysGluGlyPheTyrLysPheGluGluGlnAsnArgAlaGluSerGluCysProGlyMetAsnThrHisSerArgAlaSerCysMetGlnMetAspAspValIleAspAspIleIleSerLeuGluSerSerTyrAsnGluGluIleLeuGlyLeuMetAspProAlaLeuGlnMetAlaAsnThrLeuProValSerGlyAsnLeuIleAspLeuTyrGlyAsnGlnGlyLeuProProProGlyLeuThrIleSerAsnSerCysProAlaAsnLeuProAsnIleLysArgGluLeuThrAlaCysIlePheProThrGluSerGluAlaArgAlaLeuAlaLysGluArgGlnLysLysAspAsnHisAsnLeuIleGluArgArgArgArgPheAsnIleAsnAspArgIleLysGluLeuGlyThrLeuIleProLysSerAsnAspProAspMetArgTrpAsnLysGlyThrIleLeuLysAlaSerValAspTyrIleArgLysLeuGlnArgGluGlnGlnArgAlaLysGluLeuGluAsnArgGlnLysLysLeuGluHisAlaAsnArgHisLeuLeuLeuArgIleGlnGluLeuGluMetGlnAlaArgAlaHisGlyLeuSerLeuIleProSerThrGlyLeuCysSerProAspLeuValAsnArgIleIleLysGlnGluProValLeuGluAsnCysSerGlnAspLeuLeuGlnHisHisAlaAspLeuThrCysThrThrThrLeuAspLeuThrAspGlyThrIleThrPheAsnAsnAsnLeuGlyThrGlyThrGluAlaAsnGlnAlaTyrSerValProThrLysMetGlySerLysLeuGluAspIleLeuMetAspAspThrLeuSerProValGlyValThrAspProLeuLeuSerSerValSerProGlyAlaSerLysThrSerSerArgArgSerSerMetSerMetGluGluThrGluHisThrCysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS710814", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Plus Clinical", "nucleotide": { "Ensembl": { "hgvs": "ENST00000394351.9:c.66C>A" }, "RefSeq": { "hgvs": "NM_000248.4:c.66C>A" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000377880.3:p.Tyr22Ter" }, "RefSeq": { "hgvs": "NP_000239.1:p.Tyr22Ter" } } } }, { "@id": "http://reg.genome.network/allele/PA2829650998", "coordinates": [ { "allele": "A", "end": 415, "referenceAllele": "C", "start": 414 } ], "gene": "http://reg.genome.network/gene/GN007105", "geneNCBI_id": 4286, "geneSymbol": "MITF", "hgvs": [ "NM_006722.3:c.384C>A" ], "proteinEffect": { "hgvs": "NP_006713.1:p.Tyr128Ter", "hgvsWellDefined": "NP_006713.1:p.Tyr128_Cys519delinsHisIleGlnGlnAlaGlnArgGlnGlnValLysGlnTyrLeuSerThrThrLeuAlaAsnLysHisAlaAsnGlnValLeuSerLeuProCysProAsnGlnProGlyAspHisValMetProProValProGlySerSerAlaProAsnSerProMetAlaMetLeuThrLeuAsnSerAsnCysGluLysGluGlyPheTyrLysPheGluGluGlnAsnArgAlaGluSerGluCysProGlyMetAsnThrHisSerArgAlaSerCysMetGlnMetAspAspValIleAspAspIleIleSerLeuGluSerSerTyrAsnGluGluIleLeuGlyLeuMetAspProAlaLeuGlnMetAlaAsnThrLeuProValSerGlyAsnLeuIleAspLeuTyrGlyAsnGlnGlyLeuProProProGlyLeuThrIleSerAsnSerCysProAlaAsnLeuProAsnIleLysArgGluLeuThrGluSerGluAlaArgAlaLeuAlaLysGluArgGlnLysLysAspAsnHisAsnLeuIleGluArgArgArgArgPheAsnIleAsnAspArgIleLysGluLeuGlyThrLeuIleProLysSerAsnAspProAspMetArgTrpAsnLysGlyThrIleLeuLysAlaSerValAspTyrIleArgLysLeuGlnArgGluGlnGlnArgAlaLysGluLeuGluAsnArgGlnLysLysLeuGluHisAlaAsnArgHisLeuLeuLeuArgIleGlnGluLeuGluMetGlnAlaArgAlaHisGlyLeuSerLeuIleProSerThrGlyLeuCysSerProAspLeuValAsnArgIleIleLysGlnGluProValLeuGluAsnCysSerGlnAspLeuLeuGlnHisHisAlaAspLeuThrCysThrThrThrLeuAspLeuThrAspGlyThrIleThrPheAsnAsnAsnLeuGlyThrGlyThrGluAlaAsnGlnAlaTyrSerValProThrLysMetGlySerLysLeuGluAspIleLeuMetAspAspThrLeuSerProValGlyValThrAspProLeuLeuSerSerValSerProGlyAlaSerLysThrSerSerArgArgSerSerMetSerMetGluGluThrGluHisThrCysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS727772" } ], "type": "nucleotide" }