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}, "referenceSequence": "http://reg.genome.network/refseq/RS745938" }, { "coordinates": [ { "allele": "G", "end": 574, "referenceAllele": "T", "start": 573 } ], "gene": "http://reg.genome.network/gene/GN007105", "geneNCBI_id": 4286, "geneSymbol": "MITF", "hgvs": [ "ENST00000352241.9:c.440T>G" ], "proteinEffect": { "hgvs": "ENSP00000295600.8:p.Leu147Ter", "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.440T>G" }, "RefSeq": { "hgvs": "NM_001354604.2:c.440T>G" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000295600.8:p.Leu147Ter" }, "RefSeq": { "hgvs": "NP_001341533.1:p.Leu147Ter" } } } }, { "coordinates": [ { "allele": "G", "end": 250, "referenceAllele": "T", "start": 249 } ], "gene": "http://reg.genome.network/gene/GN007105", "geneNCBI_id": 4286, "geneSymbol": "MITF", "hgvs": [ "ENST00000394351.9:c.119T>G" ], "proteinEffect": { "hgvs": "ENSP00000377880.3:p.Leu40Ter", "hgvsWellDefined": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS753248", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Plus Clinical", "nucleotide": { "Ensembl": { "hgvs": "ENST00000394351.9:c.119T>G" }, "RefSeq": { "hgvs": "NM_000248.4:c.119T>G" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000377880.3:p.Leu40Ter" }, "RefSeq": { "hgvs": "NP_000239.1:p.Leu40Ter" } } } }, { "coordinates": [ { "allele": "G", "end": 468, "referenceAllele": "T", "start": 467 } ], "gene": "http://reg.genome.network/gene/GN007105", "geneNCBI_id": 4286, "geneSymbol": "MITF", "hgvs": [ "ENST00000448226.9:c.437T>G" ], "proteinEffect": { "hgvs": "ENSP00000391803.3:p.Leu146Ter", "hgvsWellDefined": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS756165" }, { "coordinates": [ { "allele": "G", "end": 556, "referenceAllele": "T", "start": 555 } ], "gene": "http://reg.genome.network/gene/GN007105", "geneNCBI_id": 4286, "geneSymbol": "MITF", "hgvs": [ "ENST00000642352.1:c.440T>G" ], "proteinEffect": { "hgvs": "ENSP00000494105.1:p.Leu147Ter", "hgvsWellDefined": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS766693" }, { "coordinates": [ { "allele": "G", "end": 255, "referenceAllele": "T", "start": 254 } ], "gene": "http://reg.genome.network/gene/GN007105", "geneNCBI_id": 4286, "geneSymbol": "MITF", "hgvs": [ "ENST00000314557.10:c.119T>G" ], "proteinEffect": { "hgvs": "ENSP00000324246.6:p.Leu40Ter", "hgvsWellDefined": "ENSP00000324246.6:p.Leu40_Cys413delinsAlaAsnLysHisAlaAsnGlnValLeuSerLeuProCysProAsnGlnProGlyAspHisValMetProProValProGlySerSerAlaProAsnSerProMetAlaMetLeuThrLeuAsnSerAsnCysGluLysGluGlyPheTyrLysPheGluGluGlnAsnArgAlaGluSerGluCysProGlyMetAsnThrHisSerArgAlaSerCysMetGlnMetAspAspValIleAspAspIleIleSerLeuGluSerSerTyrAsnGluGluIleLeuGlyLeuMetAspProAlaLeuGlnMetAlaAsnThrLeuProValSerGlyAsnLeuIleAspLeuTyrGlyAsnGlnGlyLeuProProProGlyLeuThrIleSerAsnSerCysProAlaAsnLeuProAsnIleLysArgGluLeuThrGluSerGluAlaArgAlaLeuAlaLysGluArgGlnLysLysAspAsnHisAsnLeuIleGluArgArgArgArgPheAsnIleAsnAspArgIleLysGluLeuGlyThrLeuIleProLysSerAsnAspProAspMetArgTrpAsnLysGlyThrIleLeuLysAlaSerValAspTyrIleArgLysLeuGlnArgGluGlnGlnArgAlaLysGluLeuGluAsnArgGlnLysLysLeuGluHisAlaAsnArgHisLeuLeuLeuArgIleGlnGluLeuGluMetGlnAlaArgAlaHisGlyLeuSerLeuIleProSerThrGlyLeuCysSerProAspLeuValAsnArgIleIleLysGlnGluProValLeuGluAsnCysSerGlnAspLeuLeuGlnHisHisAlaAspLeuThrCysThrThrThrLeuAspLeuThrAspGlyThrIleThrPheAsnAsnAsnLeuGlyThrGlyThrGluAlaAsnGlnAlaTyrSerValProThrLysMetGlySerLysLeuGluAspIleLeuMetAspAspThrLeuSerProValGlyValThrAspProLeuLeuSerSerValSerProGlyAlaSerLysThrSerSerArgArgSerSerMetSerMetGluGluThrGluHisThrCysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS256974" }, { "coordinates": [ { "allele": "G", "end": 471, "referenceAllele": "T", "start": 470 } ], "gene": "http://reg.genome.network/gene/GN007105", "geneNCBI_id": 4286, "geneSymbol": "MITF", "hgvs": [ "ENST00000314589.9:c.392T>G" ], "proteinEffect": { "hgvs": "ENSP00000324443.5:p.Leu131Ter", "hgvsWellDefined": "ENSP00000324443.5:p.Leu131_Cys504delinsAlaAsnLysHisAlaAsnGlnValLeuSerLeuProCysProAsnGlnProGlyAspHisValMetProProValProGlySerSerAlaProAsnSerProMetAlaMetLeuThrLeuAsnSerAsnCysGluLysGluGlyPheTyrLysPheGluGluGlnAsnArgAlaGluSerGluCysProGlyMetAsnThrHisSerArgAlaSerCysMetGlnMetAspAspValIleAspAspIleIleSerLeuGluSerSerTyrAsnGluGluIleLeuGlyLeuMetAspProAlaLeuGlnMetAlaAsnThrLeuProValSerGlyAsnLeuIleAspLeuTyrGlyAsnGlnGlyLeuProProProGlyLeuThrIleSerAsnSerCysProAlaAsnLeuProAsnIleLysArgGluLeuThrGluSerGluAlaArgAlaLeuAlaLysGluArgGlnLysLysAspAsnHisAsnLeuIleGluArgArgArgArgPheAsnIleAsnAspArgIleLysGluLeuGlyThrLeuIleProLysSerAsnAspProAspMetArgTrpAsnLysGlyThrIleLeuLysAlaSerValAspTyrIleArgLysLeuGlnArgGluGlnGlnArgAlaLysGluLeuGluAsnArgGlnLysLysLeuGluHisAlaAsnArgHisLeuLeuLeuArgIleGlnGluLeuGluMetGlnAlaArgAlaHisGlyLeuSerLeuIleProSerThrGlyLeuCysSerProAspLeuValAsnArgIleIleLysGlnGluProValLeuGluAsnCysSerGlnAspLeuLeuGlnHisHisAlaAspLeuThrCysThrThrThrLeuAspLeuThrAspGlyThrIleThrPheAsnAsnAsnLeuGlyThrGlyThrGluAlaAsnGlnAlaTyrSerValProThrLysMetGlySerLysLeuGluAspIleLeuMetAspAspThrLeuSerProValGlyValThrAspProLeuLeuSerSerValSerProGlyAlaSerLysThrSerSerArgArgSerSerMetSerMetGluGluThrGluHisThrCysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS256980" }, { "coordinates": [ { "allele": "G", "end": 468, "referenceAllele": "T", "start": 467 } ], "gene": "http://reg.genome.network/gene/GN007105", "geneNCBI_id": 4286, "geneSymbol": "MITF", "hgvs": [ "ENST00000328528.10:c.437T>G" ], "proteinEffect": { "hgvs": "ENSP00000327867.6:p.Leu146Ter", "hgvsWellDefined": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS258925" }, { "coordinates": [ { "allele": "G", "end": 603, "referenceAllele": "T", "start": 602 } ], "gene": "http://reg.genome.network/gene/GN007105", "geneNCBI_id": 4286, "geneSymbol": "MITF", "hgvs": [ "ENST00000352241.8:c.440T>G" ], "proteinEffect": { "hgvs": "ENSP00000295600.7:p.Leu147Ter", "hgvsWellDefined": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS262847" }, { "coordinates": [ { "allele": "G", "end": 213, "referenceAllele": "T", "start": 212 } ], "gene": "http://reg.genome.network/gene/GN007105", "geneNCBI_id": 4286, "geneSymbol": "MITF", "hgvs": [ "ENST00000394348.2:c.119T>G" ], "proteinEffect": { "hgvs": "ENSP00000481286.1:p.Leu40Ter", "hgvsWellDefined": "ENSP00000481286.1:p.Leu40_Gln91delinsAlaAsnLysHisAlaAsnGlnValLeuSerLeuProCysProAsnGlnProGlyAspHisValMetProProValProGlySerSerAlaProAsnSerProMetAlaMetLeuThrLeuAsnSerAsnCysGluLysGluPheMetLysGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS276134" }, { "coordinates": [ { "allele": "G", "end": 239, "referenceAllele": "T", "start": 238 } ], "gene": "http://reg.genome.network/gene/GN007105", "geneNCBI_id": 4286, "geneSymbol": "MITF", "hgvs": [ "ENST00000394351.7:c.119T>G" ], "proteinEffect": { "hgvs": "ENSP00000377880.3:p.Leu40Ter", "hgvsWellDefined": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS276136" }, { "coordinates": [ { "allele": "G", "end": 376, "endIntronDirection": "+", "endIntronOffset": 26, "referenceAllele": "T", "start": 376, "startIntronDirection": "+", "startIntronOffset": 25 } ], "gene": "http://reg.genome.network/gene/GN007105", "geneNCBI_id": 4286, "geneSymbol": "MITF", "hgvs": [ "ENST00000433517.5:c.258+26T>G" ], "proteinEffect": { "hgvs": "ENSP00000411389.1:n.258+26T>G" }, "referenceSequence": "http://reg.genome.network/refseq/RS292582" }, { "coordinates": [ { "allele": "G", "end": 567, "referenceAllele": "T", "start": 566 } ], "gene": "http://reg.genome.network/gene/GN007105", "geneNCBI_id": 4286, "geneSymbol": "MITF", "hgvs": [ "ENST00000448226.6:c.440T>G" ], "proteinEffect": { "hgvs": "ENSP00000391803.2:p.Leu147Ter", "hgvsWellDefined": "ENSP00000391803.2:p.Leu147_Cys526delinsAlaAsnLysHisAlaAsnGlnValLeuSerLeuProCysProAsnGlnProGlyAspHisValMetProProValProGlySerSerAlaProAsnSerProMetAlaMetLeuThrLeuAsnSerAsnCysGluLysGluGlyPheTyrLysPheGluGluGlnAsnArgAlaGluSerGluCysProGlyMetAsnThrHisSerArgAlaSerCysMetGlnMetAspAspValIleAspAspIleIleSerLeuGluSerSerTyrAsnGluGluIleLeuGlyLeuMetAspProAlaLeuGlnMetAlaAsnThrLeuProValSerGlyAsnLeuIleAspLeuTyrGlyAsnGlnGlyLeuProProProGlyLeuThrIleSerAsnSerCysProAlaAsnLeuProAsnIleLysArgGluLeuThrAlaCysIlePheProThrGluSerGluAlaArgAlaLeuAlaLysGluArgGlnLysLysAspAsnHisAsnLeuIleGluArgArgArgArgPheAsnIleAsnAspArgIleLysGluLeuGlyThrLeuIleProLysSerAsnAspProAspMetArgTrpAsnLysGlyThrIleLeuLysAlaSerValAspTyrIleArgLysLeuGlnArgGluGlnGlnArgAlaLysGluLeuGluAsnArgGlnLysLysLeuGluHisAlaAsnArgHisLeuLeuLeuArgIleGlnGluLeuGluMetGlnAlaArgAlaHisGlyLeuSerLeuIleProSerThrGlyLeuCysSerProAspLeuValAsnArgIleIleLysGlnGluProValLeuGluAsnCysSerGlnAspLeuLeuGlnHisHisAlaAspLeuThrCysThrThrThrLeuAspLeuThrAspGlyThrIleThrPheAsnAsnAsnLeuGlyThrGlyThrGluAlaAsnGlnAlaTyrSerValProThrLysMetGlySerLysLeuGluAspIleLeuMetAspAspThrLeuSerProValGlyValThrAspProLeuLeuSerSerValSerProGlyAlaSerLysThrSerSerArgArgSerSerMetSerMetGluGluThrGluHisThrCysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS299629" }, { "coordinates": [ { "allele": "G", "end": 424, "referenceAllele": "T", "start": 423 } ], "gene": "http://reg.genome.network/gene/GN007105", "geneNCBI_id": 4286, "geneSymbol": "MITF", "hgvs": [ "ENST00000451708.5:c.392T>G" ], "proteinEffect": { "hgvs": "ENSP00000398639.1:p.Leu131Ter", "hgvsWellDefined": "ENSP00000398639.1:p.Leu131Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS301298" }, { "coordinates": [ { "allele": "G", "end": 430, "referenceAllele": "T", "start": 429 } ], "gene": "http://reg.genome.network/gene/GN007105", "geneNCBI_id": 4286, "geneSymbol": "MITF", "hgvs": [ "ENST00000461014.1:n.430T>G" ], "referenceSequence": "http://reg.genome.network/refseq/RS305631" }, { "coordinates": [ { "allele": "G", "end": 473, "referenceAllele": "T", "start": 472 } ], "gene": "http://reg.genome.network/gene/GN007105", "geneNCBI_id": 4286, "geneSymbol": "MITF", "hgvs": [ "ENST00000472437.5:c.284T>G" ], "proteinEffect": { "hgvs": "ENSP00000418845.1:p.Leu95Ter", "hgvsWellDefined": "ENSP00000418845.1:p.Leu95_Cys468delinsAlaAsnLysHisAlaAsnGlnValLeuSerLeuProCysProAsnGlnProGlyAspHisValMetProProValProGlySerSerAlaProAsnSerProMetAlaMetLeuThrLeuAsnSerAsnCysGluLysGluGlyPheTyrLysPheGluGluGlnAsnArgAlaGluSerGluCysProGlyMetAsnThrHisSerArgAlaSerCysMetGlnMetAspAspValIleAspAspIleIleSerLeuGluSerSerTyrAsnGluGluIleLeuGlyLeuMetAspProAlaLeuGlnMetAlaAsnThrLeuProValSerGlyAsnLeuIleAspLeuTyrGlyAsnGlnGlyLeuProProProGlyLeuThrIleSerAsnSerCysProAlaAsnLeuProAsnIleLysArgGluLeuThrGluSerGluAlaArgAlaLeuAlaLysGluArgGlnLysLysAspAsnHisAsnLeuIleGluArgArgArgArgPheAsnIleAsnAspArgIleLysGluLeuGlyThrLeuIleProLysSerAsnAspProAspMetArgTrpAsnLysGlyThrIleLeuLysAlaSerValAspTyrIleArgLysLeuGlnArgGluGlnGlnArgAlaLysGluLeuGluAsnArgGlnLysLysLeuGluHisAlaAsnArgHisLeuLeuLeuArgIleGlnGluLeuGluMetGlnAlaArgAlaHisGlyLeuSerLeuIleProSerThrGlyLeuCysSerProAspLeuValAsnArgIleIleLysGlnGluProValLeuGluAsnCysSerGlnAspLeuLeuGlnHisHisAlaAspLeuThrCysThrThrThrLeuAspLeuThrAspGlyThrIleThrPheAsnAsnAsnLeuGlyThrGlyThrGluAlaAsnGlnAlaTyrSerValProThrLysMetGlySerLysLeuGluAspIleLeuMetAspAspThrLeuSerProValGlyValThrAspProLeuLeuSerSerValSerProGlyAlaSerLysThrSerSerArgArgSerSerMetSerMetGluGluThrGluHisThrCysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS314406" }, { "coordinates": [ { "allele": "G", "end": 214, "referenceAllele": "T", "start": 213 } ], "gene": "http://reg.genome.network/gene/GN007105", "geneNCBI_id": 4286, "geneSymbol": "MITF", "hgvs": [ "ENST00000478490.5:c.119T>G" ], "proteinEffect": { "hgvs": "ENSP00000433487.1:p.Leu40Ter", "hgvsWellDefined": "ENSP00000433487.1:p.Leu40_Gly105delinsAlaAsnLysHisAlaAsnGlnValLeuSerLeuProCysProAsnGlnProGlyAspHisValMetProProValProGlySerSerAlaProAsnSerProMetAlaMetLeuThrLeuAsnSerAsnCysGluLysGluGlyPheTyrLysPheGluGluGlnAsnArgAlaGluSerGluCysProAspGlyTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS319090" }, { "coordinates": [ { "allele": "G", "end": 93, "endIntronDirection": "+", "endIntronOffset": 26, "referenceAllele": "T", "start": 93, "startIntronDirection": "+", "startIntronOffset": 25 } ], "gene": "http://reg.genome.network/gene/GN007105", "geneNCBI_id": 4286, "geneSymbol": "MITF", "hgvs": [ "ENST00000531774.1:c.93+26T>G" ], "proteinEffect": { "hgvs": "ENSP00000435909.1:n.93+26T>G" }, "referenceSequence": "http://reg.genome.network/refseq/RS356810" }, { "@id": "http://reg.genome.network/allele/PA2825105440", "coordinates": [ { "allele": "G", "end": 242, "referenceAllele": "T", "start": 241 } ], "gene": "http://reg.genome.network/gene/GN007105", "geneNCBI_id": 4286, "geneSymbol": "MITF", "hgvs": [ "NM_000248.3:c.119T>G", "LRG_776t1:c.119T>G" ], "proteinEffect": { "hgvs": "NP_000239.1:p.Leu40Ter", "hgvsWellDefined": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS006310" }, { "@id": "http://reg.genome.network/allele/PA2826151249", "coordinates": [ { "allele": "G", "end": 473, "referenceAllele": "T", "start": 472 } ], "gene": "http://reg.genome.network/gene/GN007105", "geneNCBI_id": 4286, "geneSymbol": "MITF", "hgvs": [ "NM_001184967.1:c.284T>G" ], "proteinEffect": { "hgvs": "NP_001171896.1:p.Leu95Ter", "hgvsWellDefined": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS016055" }, { "@id": "http://reg.genome.network/allele/PA2826151615", "coordinates": [ { "allele": "G", "end": 242, "referenceAllele": "T", "start": 241 } ], "gene": "http://reg.genome.network/gene/GN007105", "geneNCBI_id": 4286, "geneSymbol": "MITF", "hgvs": [ "NM_001184968.1:c.119T>G" ], "proteinEffect": { "hgvs": "NP_001171897.1:p.Leu40Ter", "hgvsWellDefined": "NP_001171897.1:p.Leu40_Gln91delinsAlaAsnLysHisAlaAsnGlnValLeuSerLeuProCysProAsnGlnProGlyAspHisValMetProProValProGlySerSerAlaProAsnSerProMetAlaMetLeuThrLeuAsnSerAsnCysGluLysGluPheMetLysGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS016056" }, { "@id": "http://reg.genome.network/allele/PA2829651009", "coordinates": [ { "allele": "G", "end": 468, "referenceAllele": "T", "start": 467 } ], "gene": "http://reg.genome.network/gene/GN007105", "geneNCBI_id": 4286, "geneSymbol": "MITF", "hgvs": [ "NM_006722.2:c.437T>G" ], "proteinEffect": { "hgvs": "NP_006713.1:p.Leu146Ter", "hgvsWellDefined": "NP_006713.1:p.Leu146_Cys519delinsAlaAsnLysHisAlaAsnGlnValLeuSerLeuProCysProAsnGlnProGlyAspHisValMetProProValProGlySerSerAlaProAsnSerProMetAlaMetLeuThrLeuAsnSerAsnCysGluLysGluGlyPheTyrLysPheGluGluGlnAsnArgAlaGluSerGluCysProGlyMetAsnThrHisSerArgAlaSerCysMetGlnMetAspAspValIleAspAspIleIleSerLeuGluSerSerTyrAsnGluGluIleLeuGlyLeuMetAspProAlaLeuGlnMetAlaAsnThrLeuProValSerGlyAsnLeuIleAspLeuTyrGlyAsnGlnGlyLeuProProProGlyLeuThrIleSerAsnSerCysProAlaAsnLeuProAsnIleLysArgGluLeuThrGluSerGluAlaArgAlaLeuAlaLysGluArgGlnLysLysAspAsnHisAsnLeuIleGluArgArgArgArgPheAsnIleAsnAspArgIleLysGluLeuGlyThrLeuIleProLysSerAsnAspProAspMetArgTrpAsnLysGlyThrIleLeuLysAlaSerValAspTyrIleArgLysLeuGlnArgGluGlnGlnArgAlaLysGluLeuGluAsnArgGlnLysLysLeuGluHisAlaAsnArgHisLeuLeuLeuArgIleGlnGluLeuGluMetGlnAlaArgAlaHisGlyLeuSerLeuIleProSerThrGlyLeuCysSerProAspLeuValAsnArgIleIleLysGlnGluProValLeuGluAsnCysSerGlnAspLeuLeuGlnHisHisAlaAspLeuThrCysThrThrThrLeuAspLeuThrAspGlyThrIleThrPheAsnAsnAsnLeuGlyThrGlyThrGluAlaAsnGlnAlaTyrSerValProThrLysMetGlySerLysLeuGluAspIleLeuMetAspAspThrLeuSerProValGlyValThrAspProLeuLeuSerSerValSerProGlyAlaSerLysThrSerSerArgArgSerSerMetSerMetGluGluThrGluHisThrCysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS031711" }, { "@id": "http://reg.genome.network/allele/PA2830431112", "coordinates": [ { "allele": "G", "end": 242, "referenceAllele": "T", "start": 241 } ], "gene": "http://reg.genome.network/gene/GN007105", "geneNCBI_id": 4286, "geneSymbol": "MITF", "hgvs": [ "NM_198158.2:c.119T>G" ], "proteinEffect": { "hgvs": "NP_937801.1:p.Leu40Ter", "hgvsWellDefined": "NP_937801.1:p.Leu40_Cys413delinsAlaAsnLysHisAlaAsnGlnValLeuSerLeuProCysProAsnGlnProGlyAspHisValMetProProValProGlySerSerAlaProAsnSerProMetAlaMetLeuThrLeuAsnSerAsnCysGluLysGluGlyPheTyrLysPheGluGluGlnAsnArgAlaGluSerGluCysProGlyMetAsnThrHisSerArgAlaSerCysMetGlnMetAspAspValIleAspAspIleIleSerLeuGluSerSerTyrAsnGluGluIleLeuGlyLeuMetAspProAlaLeuGlnMetAlaAsnThrLeuProValSerGlyAsnLeuIleAspLeuTyrGlyAsnGlnGlyLeuProProProGlyLeuThrIleSerAsnSerCysProAlaAsnLeuProAsnIleLysArgGluLeuThrGluSerGluAlaArgAlaLeuAlaLysGluArgGlnLysLysAspAsnHisAsnLeuIleGluArgArgArgArgPheAsnIleAsnAspArgIleLysGluLeuGlyThrLeuIleProLysSerAsnAspProAspMetArgTrpAsnLysGlyThrIleLeuLysAlaSerValAspTyrIleArgLysLeuGlnArgGluGlnGlnArgAlaLysGluLeuGluAsnArgGlnLysLysLeuGluHisAlaAsnArgHisLeuLeuLeuArgIleGlnGluLeuGluMetGlnAlaArgAlaHisGlyLeuSerLeuIleProSerThrGlyLeuCysSerProAspLeuValAsnArgIleIleLysGlnGluProValLeuGluAsnCysSerGlnAspLeuLeuGlnHisHisAlaAspLeuThrCysThrThrThrLeuAspLeuThrAspGlyThrIleThrPheAsnAsnAsnLeuGlyThrGlyThrGluAlaAsnGlnAlaTyrSerValProThrLysMetGlySerLysLeuGluAspIleLeuMetAspAspThrLeuSerProValGlyValThrAspProLeuLeuSerSerValSerProGlyAlaSerLysThrSerSerArgArgSerSerMetSerMetGluGluThrGluHisThrCysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS044446" }, { "@id": "http://reg.genome.network/allele/PA2830431653", "coordinates": [ { "allele": "G", "end": 603, "referenceAllele": "T", "start": 602 } ], "gene": "http://reg.genome.network/gene/GN007105", "geneNCBI_id": 4286, "geneSymbol": "MITF", "hgvs": [ "NM_198159.2:c.440T>G" ], "proteinEffect": { "hgvs": "NP_937802.1:p.Leu147Ter", "hgvsWellDefined": "NP_937802.1:p.Leu147_Cys520delinsAlaAsnLysHisAlaAsnGlnValLeuSerLeuProCysProAsnGlnProGlyAspHisValMetProProValProGlySerSerAlaProAsnSerProMetAlaMetLeuThrLeuAsnSerAsnCysGluLysGluGlyPheTyrLysPheGluGluGlnAsnArgAlaGluSerGluCysProGlyMetAsnThrHisSerArgAlaSerCysMetGlnMetAspAspValIleAspAspIleIleSerLeuGluSerSerTyrAsnGluGluIleLeuGlyLeuMetAspProAlaLeuGlnMetAlaAsnThrLeuProValSerGlyAsnLeuIleAspLeuTyrGlyAsnGlnGlyLeuProProProGlyLeuThrIleSerAsnSerCysProAlaAsnLeuProAsnIleLysArgGluLeuThrGluSerGluAlaArgAlaLeuAlaLysGluArgGlnLysLysAspAsnHisAsnLeuIleGluArgArgArgArgPheAsnIleAsnAspArgIleLysGluLeuGlyThrLeuIleProLysSerAsnAspProAspMetArgTrpAsnLysGlyThrIleLeuLysAlaSerValAspTyrIleArgLysLeuGlnArgGluGlnGlnArgAlaLysGluLeuGluAsnArgGlnLysLysLeuGluHisAlaAsnArgHisLeuLeuLeuArgIleGlnGluLeuGluMetGlnAlaArgAlaHisGlyLeuSerLeuIleProSerThrGlyLeuCysSerProAspLeuValAsnArgIleIleLysGlnGluProValLeuGluAsnCysSerGlnAspLeuLeuGlnHisHisAlaAspLeuThrCysThrThrThrLeuAspLeuThrAspGlyThrIleThrPheAsnAsnAsnLeuGlyThrGlyThrGluAlaAsnGlnAlaTyrSerValProThrLysMetGlySerLysLeuGluAspIleLeuMetAspAspThrLeuSerProValGlyValThrAspProLeuLeuSerSerValSerProGlyAlaSerLysThrSerSerArgArgSerSerMetSerMetGluGluThrGluHisThrCysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS044447" }, { "@id": "http://reg.genome.network/allele/PA2830432552", "coordinates": [ { "allele": "G", "end": 459, "referenceAllele": "T", "start": 458 } ], "gene": "http://reg.genome.network/gene/GN007105", "geneNCBI_id": 4286, "geneSymbol": "MITF", "hgvs": [ "NM_198177.2:c.392T>G" ], "proteinEffect": { "hgvs": "NP_937820.1:p.Leu131Ter", "hgvsWellDefined": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS044451" }, { "coordinates": [ { "allele": "G", "end": 216, "endIntronDirection": "+", "endIntronOffset": 26, "referenceAllele": "T", "start": 216, "startIntronDirection": "+", "startIntronOffset": 25 } ], "gene": "http://reg.genome.network/gene/GN007105", "geneNCBI_id": 4286, "geneSymbol": "MITF", "hgvs": [ "NM_198178.2:c.93+26T>G" ], "proteinEffect": { "hgvs": "NP_937821.2:n.93+26T>G" }, "referenceSequence": "http://reg.genome.network/refseq/RS044452" }, { "coordinates": [ { "allele": "G", "end": 575, "referenceAllele": "T", "start": 574 } ], "gene": "http://reg.genome.network/gene/GN007105", "geneNCBI_id": 4286, "geneSymbol": "MITF", "hgvs": [ "XM_005264754.1:c.440T>G" ], "proteinEffect": { "hgvs": "XP_005264811.1:p.Leu147Ter", "hgvsWellDefined": "XP_005264811.1:p.Leu147_Cys526delinsAlaAsnLysHisAlaAsnGlnValLeuSerLeuProCysProAsnGlnProGlyAspHisValMetProProValProGlySerSerAlaProAsnSerProMetAlaMetLeuThrLeuAsnSerAsnCysGluLysGluGlyPheTyrLysPheGluGluGlnAsnArgAlaGluSerGluCysProGlyMetAsnThrHisSerArgAlaSerCysMetGlnMetAspAspValIleAspAspIleIleSerLeuGluSerSerTyrAsnGluGluIleLeuGlyLeuMetAspProAlaLeuGlnMetAlaAsnThrLeuProValSerGlyAsnLeuIleAspLeuTyrGlyAsnGlnGlyLeuProProProGlyLeuThrIleSerAsnSerCysProAlaAsnLeuProAsnIleLysArgGluLeuThrAlaCysIlePheProThrGluSerGluAlaArgAlaLeuAlaLysGluArgGlnLysLysAspAsnHisAsnLeuIleGluArgArgArgArgPheAsnIleAsnAspArgIleLysGluLeuGlyThrLeuIleProLysSerAsnAspProAspMetArgTrpAsnLysGlyThrIleLeuLysAlaSerValAspTyrIleArgLysLeuGlnArgGluGlnGlnArgAlaLysGluLeuGluAsnArgGlnLysLysLeuGluHisAlaAsnArgHisLeuLeuLeuArgIleGlnGluLeuGluMetGlnAlaArgAlaHisGlyLeuSerLeuIleProSerThrGlyLeuCysSerProAspLeuValAsnArgIleIleLysGlnGluProValLeuGluAsnCysSerGlnAspLeuLeuGlnHisHisAlaAspLeuThrCysThrThrThrLeuAspLeuThrAspGlyThrIleThrPheAsnAsnAsnLeuGlyThrGlyThrGluAlaAsnGlnAlaTyrSerValProThrLysMetGlySerLysLeuGluAspIleLeuMetAspAspThrLeuSerProValGlyValThrAspProLeuLeuSerSerValSerProGlyAlaSerLysThrSerSerArgArgSerSerMetSerMetGluGluThrGluHisThrCysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS064358" }, { "coordinates": [ { "allele": "G", "end": 454, "referenceAllele": "T", "start": 453 } ], "gene": "http://reg.genome.network/gene/GN007105", "geneNCBI_id": 4286, "geneSymbol": "MITF", "hgvs": [ "XM_005264755.2:c.392T>G" ], "proteinEffect": { "hgvs": "XP_005264812.1:p.Leu131Ter", "hgvsWellDefined": "XP_005264812.1:p.Leu131_Cys510delinsAlaAsnLysHisAlaAsnGlnValLeuSerLeuProCysProAsnGlnProGlyAspHisValMetProProValProGlySerSerAlaProAsnSerProMetAlaMetLeuThrLeuAsnSerAsnCysGluLysGluGlyPheTyrLysPheGluGluGlnAsnArgAlaGluSerGluCysProGlyMetAsnThrHisSerArgAlaSerCysMetGlnMetAspAspValIleAspAspIleIleSerLeuGluSerSerTyrAsnGluGluIleLeuGlyLeuMetAspProAlaLeuGlnMetAlaAsnThrLeuProValSerGlyAsnLeuIleAspLeuTyrGlyAsnGlnGlyLeuProProProGlyLeuThrIleSerAsnSerCysProAlaAsnLeuProAsnIleLysArgGluLeuThrAlaCysIlePheProThrGluSerGluAlaArgAlaLeuAlaLysGluArgGlnLysLysAspAsnHisAsnLeuIleGluArgArgArgArgPheAsnIleAsnAspArgIleLysGluLeuGlyThrLeuIleProLysSerAsnAspProAspMetArgTrpAsnLysGlyThrIleLeuLysAlaSerValAspTyrIleArgLysLeuGlnArgGluGlnGlnArgAlaLysGluLeuGluAsnArgGlnLysLysLeuGluHisAlaAsnArgHisLeuLeuLeuArgIleGlnGluLeuGluMetGlnAlaArgAlaHisGlyLeuSerLeuIleProSerThrGlyLeuCysSerProAspLeuValAsnArgIleIleLysGlnGluProValLeuGluAsnCysSerGlnAspLeuLeuGlnHisHisAlaAspLeuThrCysThrThrThrLeuAspLeuThrAspGlyThrIleThrPheAsnAsnAsnLeuGlyThrGlyThrGluAlaAsnGlnAlaTyrSerValProThrLysMetGlySerLysLeuGluAspIleLeuMetAspAspThrLeuSerProValGlyValThrAspProLeuLeuSerSerValSerProGlyAlaSerLysThrSerSerArgArgSerSerMetSerMetGluGluThrGluHisThrCysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS064359" }, { "coordinates": [ { "allele": "G", "end": 595, "referenceAllele": "T", "start": 594 } ], "gene": "http://reg.genome.network/gene/GN007105", "geneNCBI_id": 4286, "geneSymbol": "MITF", "hgvs": [ "XM_006713164.2:c.284T>G" ], "proteinEffect": { "hgvs": "XP_006713227.1:p.Leu95Ter", "hgvsWellDefined": "XP_006713227.1:p.Leu95_Cys474delinsAlaAsnLysHisAlaAsnGlnValLeuSerLeuProCysProAsnGlnProGlyAspHisValMetProProValProGlySerSerAlaProAsnSerProMetAlaMetLeuThrLeuAsnSerAsnCysGluLysGluGlyPheTyrLysPheGluGluGlnAsnArgAlaGluSerGluCysProGlyMetAsnThrHisSerArgAlaSerCysMetGlnMetAspAspValIleAspAspIleIleSerLeuGluSerSerTyrAsnGluGluIleLeuGlyLeuMetAspProAlaLeuGlnMetAlaAsnThrLeuProValSerGlyAsnLeuIleAspLeuTyrGlyAsnGlnGlyLeuProProProGlyLeuThrIleSerAsnSerCysProAlaAsnLeuProAsnIleLysArgGluLeuThrAlaCysIlePheProThrGluSerGluAlaArgAlaLeuAlaLysGluArgGlnLysLysAspAsnHisAsnLeuIleGluArgArgArgArgPheAsnIleAsnAspArgIleLysGluLeuGlyThrLeuIleProLysSerAsnAspProAspMetArgTrpAsnLysGlyThrIleLeuLysAlaSerValAspTyrIleArgLysLeuGlnArgGluGlnGlnArgAlaLysGluLeuGluAsnArgGlnLysLysLeuGluHisAlaAsnArgHisLeuLeuLeuArgIleGlnGluLeuGluMetGlnAlaArgAlaHisGlyLeuSerLeuIleProSerThrGlyLeuCysSerProAspLeuValAsnArgIleIleLysGlnGluProValLeuGluAsnCysSerGlnAspLeuLeuGlnHisHisAlaAspLeuThrCysThrThrThrLeuAspLeuThrAspGlyThrIleThrPheAsnAsnAsnLeuGlyThrGlyThrGluAlaAsnGlnAlaTyrSerValProThrLysMetGlySerLysLeuGluAspIleLeuMetAspAspThrLeuSerProValGlyValThrAspProLeuLeuSerSerValSerProGlyAlaSerLysThrSerSerArgArgSerSerMetSerMetGluGluThrGluHisThrCysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS070030" }, { "coordinates": [ { "allele": "G", "end": 578, "referenceAllele": "T", "start": 577 } ], "gene": "http://reg.genome.network/gene/GN007105", "geneNCBI_id": 4286, "geneSymbol": "MITF", "hgvs": [ "XM_011533722.1:c.437T>G" ], "proteinEffect": { "hgvs": "XP_011532024.1:p.Leu146Ter", "hgvsWellDefined": "XP_011532024.1:p.Leu146_Cys525delinsAlaAsnLysHisAlaAsnGlnValLeuSerLeuProCysProAsnGlnProGlyAspHisValMetProProValProGlySerSerAlaProAsnSerProMetAlaMetLeuThrLeuAsnSerAsnCysGluLysGluGlyPheTyrLysPheGluGluGlnAsnArgAlaGluSerGluCysProGlyMetAsnThrHisSerArgAlaSerCysMetGlnMetAspAspValIleAspAspIleIleSerLeuGluSerSerTyrAsnGluGluIleLeuGlyLeuMetAspProAlaLeuGlnMetAlaAsnThrLeuProValSerGlyAsnLeuIleAspLeuTyrGlyAsnGlnGlyLeuProProProGlyLeuThrIleSerAsnSerCysProAlaAsnLeuProAsnIleLysArgGluLeuThrAlaCysIlePheProThrGluSerGluAlaArgAlaLeuAlaLysGluArgGlnLysLysAspAsnHisAsnLeuIleGluArgArgArgArgPheAsnIleAsnAspArgIleLysGluLeuGlyThrLeuIleProLysSerAsnAspProAspMetArgTrpAsnLysGlyThrIleLeuLysAlaSerValAspTyrIleArgLysLeuGlnArgGluGlnGlnArgAlaLysGluLeuGluAsnArgGlnLysLysLeuGluHisAlaAsnArgHisLeuLeuLeuArgIleGlnGluLeuGluMetGlnAlaArgAlaHisGlyLeuSerLeuIleProSerThrGlyLeuCysSerProAspLeuValAsnArgIleIleLysGlnGluProValLeuGluAsnCysSerGlnAspLeuLeuGlnHisHisAlaAspLeuThrCysThrThrThrLeuAspLeuThrAspGlyThrIleThrPheAsnAsnAsnLeuGlyThrGlyThrGluAlaAsnGlnAlaTyrSerValProThrLysMetGlySerLysLeuGluAspIleLeuMetAspAspThrLeuSerProValGlyValThrAspProLeuLeuSerSerValSerProGlyAlaSerLysThrSerSerArgArgSerSerMetSerMetGluGluThrGluHisThrCysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS100743" }, { "coordinates": [ { "allele": "G", "end": 441, "referenceAllele": "T", "start": 440 } ], "gene": "http://reg.genome.network/gene/GN007105", "geneNCBI_id": 4286, "geneSymbol": "MITF", "hgvs": [ "XM_011533723.1:c.389T>G" ], "proteinEffect": { "hgvs": "XP_011532025.1:p.Leu130Ter", "hgvsWellDefined": "XP_011532025.1:p.Leu130_Cys509delinsAlaAsnLysHisAlaAsnGlnValLeuSerLeuProCysProAsnGlnProGlyAspHisValMetProProValProGlySerSerAlaProAsnSerProMetAlaMetLeuThrLeuAsnSerAsnCysGluLysGluGlyPheTyrLysPheGluGluGlnAsnArgAlaGluSerGluCysProGlyMetAsnThrHisSerArgAlaSerCysMetGlnMetAspAspValIleAspAspIleIleSerLeuGluSerSerTyrAsnGluGluIleLeuGlyLeuMetAspProAlaLeuGlnMetAlaAsnThrLeuProValSerGlyAsnLeuIleAspLeuTyrGlyAsnGlnGlyLeuProProProGlyLeuThrIleSerAsnSerCysProAlaAsnLeuProAsnIleLysArgGluLeuThrAlaCysIlePheProThrGluSerGluAlaArgAlaLeuAlaLysGluArgGlnLysLysAspAsnHisAsnLeuIleGluArgArgArgArgPheAsnIleAsnAspArgIleLysGluLeuGlyThrLeuIleProLysSerAsnAspProAspMetArgTrpAsnLysGlyThrIleLeuLysAlaSerValAspTyrIleArgLysLeuGlnArgGluGlnGlnArgAlaLysGluLeuGluAsnArgGlnLysLysLeuGluHisAlaAsnArgHisLeuLeuLeuArgIleGlnGluLeuGluMetGlnAlaArgAlaHisGlyLeuSerLeuIleProSerThrGlyLeuCysSerProAspLeuValAsnArgIleIleLysGlnGluProValLeuGluAsnCysSerGlnAspLeuLeuGlnHisHisAlaAspLeuThrCysThrThrThrLeuAspLeuThrAspGlyThrIleThrPheAsnAsnAsnLeuGlyThrGlyThrGluAlaAsnGlnAlaTyrSerValProThrLysMetGlySerLysLeuGluAspIleLeuMetAspAspThrLeuSerProValGlyValThrAspProLeuLeuSerSerValSerProGlyAlaSerLysThrSerSerArgArgSerSerMetSerMetGluGluThrGluHisThrCysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS100744" }, { "coordinates": [ { "allele": "G", "end": 468, "referenceAllele": "T", "start": 467 } ], "gene": "http://reg.genome.network/gene/GN007105", "geneNCBI_id": 4286, "geneSymbol": "MITF", "hgvs": [ "XM_011533724.1:c.284T>G" ], "proteinEffect": { "hgvs": "XP_011532026.1:p.Leu95Ter", "hgvsWellDefined": "XP_011532026.1:p.Leu95_Cys474delinsAlaAsnLysHisAlaAsnGlnValLeuSerLeuProCysProAsnGlnProGlyAspHisValMetProProValProGlySerSerAlaProAsnSerProMetAlaMetLeuThrLeuAsnSerAsnCysGluLysGluGlyPheTyrLysPheGluGluGlnAsnArgAlaGluSerGluCysProGlyMetAsnThrHisSerArgAlaSerCysMetGlnMetAspAspValIleAspAspIleIleSerLeuGluSerSerTyrAsnGluGluIleLeuGlyLeuMetAspProAlaLeuGlnMetAlaAsnThrLeuProValSerGlyAsnLeuIleAspLeuTyrGlyAsnGlnGlyLeuProProProGlyLeuThrIleSerAsnSerCysProAlaAsnLeuProAsnIleLysArgGluLeuThrAlaCysIlePheProThrGluSerGluAlaArgAlaLeuAlaLysGluArgGlnLysLysAspAsnHisAsnLeuIleGluArgArgArgArgPheAsnIleAsnAspArgIleLysGluLeuGlyThrLeuIleProLysSerAsnAspProAspMetArgTrpAsnLysGlyThrIleLeuLysAlaSerValAspTyrIleArgLysLeuGlnArgGluGlnGlnArgAlaLysGluLeuGluAsnArgGlnLysLysLeuGluHisAlaAsnArgHisLeuLeuLeuArgIleGlnGluLeuGluMetGlnAlaArgAlaHisGlyLeuSerLeuIleProSerThrGlyLeuCysSerProAspLeuValAsnArgIleIleLysGlnGluProValLeuGluAsnCysSerGlnAspLeuLeuGlnHisHisAlaAspLeuThrCysThrThrThrLeuAspLeuThrAspGlyThrIleThrPheAsnAsnAsnLeuGlyThrGlyThrGluAlaAsnGlnAlaTyrSerValProThrLysMetGlySerLysLeuGluAspIleLeuMetAspAspThrLeuSerProValGlyValThrAspProLeuLeuSerSerValSerProGlyAlaSerLysThrSerSerArgArgSerSerMetSerMetGluGluThrGluHisThrCysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS100745" }, { "coordinates": [ { "allele": "G", "end": 577, "endIntronDirection": "+", "endIntronOffset": 26, "referenceAllele": "T", "start": 577, "startIntronDirection": "+", "startIntronOffset": 25 } ], "gene": "http://reg.genome.network/gene/GN007105", "geneNCBI_id": 4286, "geneSymbol": "MITF", "hgvs": [ "XM_011533725.1:c.414+26T>G" ], "proteinEffect": { "hgvs": "XP_011532027.1:n.414+26T>G" }, "referenceSequence": "http://reg.genome.network/refseq/RS100746" }, { "coordinates": [ { "allele": "G", "end": 577, "endIntronDirection": "+", "endIntronOffset": 26, "referenceAllele": "T", "start": 577, "startIntronDirection": "+", "startIntronOffset": 25 } ], "gene": "http://reg.genome.network/gene/GN007105", "geneNCBI_id": 4286, "geneSymbol": "MITF", "hgvs": [ "XM_011533726.1:c.414+26T>G" ], "proteinEffect": { "hgvs": "XP_011532028.1:n.414+26T>G" }, "referenceSequence": "http://reg.genome.network/refseq/RS100747" }, { "@id": "http://reg.genome.network/allele/PA2827881275", "coordinates": [ { "allele": "G", "end": 603, "referenceAllele": "T", "start": 602 } ], "gene": "http://reg.genome.network/gene/GN007105", "geneNCBI_id": 4286, "geneSymbol": "MITF", "hgvs": [ "NM_001354604.1:c.440T>G" ], "proteinEffect": { "hgvs": "NP_001341533.1:p.Leu147Ter", "hgvsWellDefined": "NP_001341533.1:p.Leu147_Cys526delinsAlaAsnLysHisAlaAsnGlnValLeuSerLeuProCysProAsnGlnProGlyAspHisValMetProProValProGlySerSerAlaProAsnSerProMetAlaMetLeuThrLeuAsnSerAsnCysGluLysGluGlyPheTyrLysPheGluGluGlnAsnArgAlaGluSerGluCysProGlyMetAsnThrHisSerArgAlaSerCysMetGlnMetAspAspValIleAspAspIleIleSerLeuGluSerSerTyrAsnGluGluIleLeuGlyLeuMetAspProAlaLeuGlnMetAlaAsnThrLeuProValSerGlyAsnLeuIleAspLeuTyrGlyAsnGlnGlyLeuProProProGlyLeuThrIleSerAsnSerCysProAlaAsnLeuProAsnIleLysArgGluLeuThrAlaCysIlePheProThrGluSerGluAlaArgAlaLeuAlaLysGluArgGlnLysLysAspAsnHisAsnLeuIleGluArgArgArgArgPheAsnIleAsnAspArgIleLysGluLeuGlyThrLeuIleProLysSerAsnAspProAspMetArgTrpAsnLysGlyThrIleLeuLysAlaSerValAspTyrIleArgLysLeuGlnArgGluGlnGlnArgAlaLysGluLeuGluAsnArgGlnLysLysLeuGluHisAlaAsnArgHisLeuLeuLeuArgIleGlnGluLeuGluMetGlnAlaArgAlaHisGlyLeuSerLeuIleProSerThrGlyLeuCysSerProAspLeuValAsnArgIleIleLysGlnGluProValLeuGluAsnCysSerGlnAspLeuLeuGlnHisHisAlaAspLeuThrCysThrThrThrLeuAspLeuThrAspGlyThrIleThrPheAsnAsnAsnLeuGlyThrGlyThrGluAlaAsnGlnAlaTyrSerValProThrLysMetGlySerLysLeuGluAspIleLeuMetAspAspThrLeuSerProValGlyValThrAspProLeuLeuSerSerValSerProGlyAlaSerLysThrSerSerArgArgSerSerMetSerMetGluGluThrGluHisThrCysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS522548" }, { "@id": "http://reg.genome.network/allele/PA2827881477", "coordinates": [ { "allele": "G", "end": 600, "referenceAllele": "T", "start": 599 } ], "gene": "http://reg.genome.network/gene/GN007105", "geneNCBI_id": 4286, "geneSymbol": "MITF", "hgvs": [ "NM_001354605.1:c.437T>G" ], "proteinEffect": { "hgvs": "NP_001341534.1:p.Leu146Ter", "hgvsWellDefined": "NP_001341534.1:p.Leu146_Cys525delinsAlaAsnLysHisAlaAsnGlnValLeuSerLeuProCysProAsnGlnProGlyAspHisValMetProProValProGlySerSerAlaProAsnSerProMetAlaMetLeuThrLeuAsnSerAsnCysGluLysGluGlyPheTyrLysPheGluGluGlnAsnArgAlaGluSerGluCysProGlyMetAsnThrHisSerArgAlaSerCysMetGlnMetAspAspValIleAspAspIleIleSerLeuGluSerSerTyrAsnGluGluIleLeuGlyLeuMetAspProAlaLeuGlnMetAlaAsnThrLeuProValSerGlyAsnLeuIleAspLeuTyrGlyAsnGlnGlyLeuProProProGlyLeuThrIleSerAsnSerCysProAlaAsnLeuProAsnIleLysArgGluLeuThrAlaCysIlePheProThrGluSerGluAlaArgAlaLeuAlaLysGluArgGlnLysLysAspAsnHisAsnLeuIleGluArgArgArgArgPheAsnIleAsnAspArgIleLysGluLeuGlyThrLeuIleProLysSerAsnAspProAspMetArgTrpAsnLysGlyThrIleLeuLysAlaSerValAspTyrIleArgLysLeuGlnArgGluGlnGlnArgAlaLysGluLeuGluAsnArgGlnLysLysLeuGluHisAlaAsnArgHisLeuLeuLeuArgIleGlnGluLeuGluMetGlnAlaArgAlaHisGlyLeuSerLeuIleProSerThrGlyLeuCysSerProAspLeuValAsnArgIleIleLysGlnGluProValLeuGluAsnCysSerGlnAspLeuLeuGlnHisHisAlaAspLeuThrCysThrThrThrLeuAspLeuThrAspGlyThrIleThrPheAsnAsnAsnLeuGlyThrGlyThrGluAlaAsnGlnAlaTyrSerValProThrLysMetGlySerLysLeuGluAspIleLeuMetAspAspThrLeuSerProValGlyValThrAspProLeuLeuSerSerValSerProGlyAlaSerLysThrSerSerArgArgSerSerMetSerMetGluGluThrGluHisThrCysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS522549" }, { "@id": "http://reg.genome.network/allele/PA2827881850", "coordinates": [ { "allele": "G", "end": 600, "referenceAllele": "T", "start": 599 } ], "gene": "http://reg.genome.network/gene/GN007105", "geneNCBI_id": 4286, "geneSymbol": "MITF", "hgvs": [ "NM_001354606.1:c.437T>G" ], "proteinEffect": { "hgvs": "NP_001341535.1:p.Leu146Ter", "hgvsWellDefined": "NP_001341535.1:p.Leu146_Cys519delinsAlaAsnLysHisAlaAsnGlnValLeuSerLeuProCysProAsnGlnProGlyAspHisValMetProProValProGlySerSerAlaProAsnSerProMetAlaMetLeuThrLeuAsnSerAsnCysGluLysGluGlyPheTyrLysPheGluGluGlnAsnArgAlaGluSerGluCysProGlyMetAsnThrHisSerArgAlaSerCysMetGlnMetAspAspValIleAspAspIleIleSerLeuGluSerSerTyrAsnGluGluIleLeuGlyLeuMetAspProAlaLeuGlnMetAlaAsnThrLeuProValSerGlyAsnLeuIleAspLeuTyrGlyAsnGlnGlyLeuProProProGlyLeuThrIleSerAsnSerCysProAlaAsnLeuProAsnIleLysArgGluLeuThrGluSerGluAlaArgAlaLeuAlaLysGluArgGlnLysLysAspAsnHisAsnLeuIleGluArgArgArgArgPheAsnIleAsnAspArgIleLysGluLeuGlyThrLeuIleProLysSerAsnAspProAspMetArgTrpAsnLysGlyThrIleLeuLysAlaSerValAspTyrIleArgLysLeuGlnArgGluGlnGlnArgAlaLysGluLeuGluAsnArgGlnLysLysLeuGluHisAlaAsnArgHisLeuLeuLeuArgIleGlnGluLeuGluMetGlnAlaArgAlaHisGlyLeuSerLeuIleProSerThrGlyLeuCysSerProAspLeuValAsnArgIleIleLysGlnGluProValLeuGluAsnCysSerGlnAspLeuLeuGlnHisHisAlaAspLeuThrCysThrThrThrLeuAspLeuThrAspGlyThrIleThrPheAsnAsnAsnLeuGlyThrGlyThrGluAlaAsnGlnAlaTyrSerValProThrLysMetGlySerLysLeuGluAspIleLeuMetAspAspThrLeuSerProValGlyValThrAspProLeuLeuSerSerValSerProGlyAlaSerLysThrSerSerArgArgSerSerMetSerMetGluGluThrGluHisThrCysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS522550" }, { "@id": "http://reg.genome.network/allele/PA2827882217", "coordinates": [ { "allele": "G", "end": 732, "referenceAllele": "T", "start": 731 } ], "gene": "http://reg.genome.network/gene/GN007105", "geneNCBI_id": 4286, "geneSymbol": "MITF", "hgvs": [ "NM_001354607.1:c.389T>G" ], "proteinEffect": { "hgvs": "NP_001341536.1:p.Leu130Ter", "hgvsWellDefined": "NP_001341536.1:p.Leu130_Cys503delinsAlaAsnLysHisAlaAsnGlnValLeuSerLeuProCysProAsnGlnProGlyAspHisValMetProProValProGlySerSerAlaProAsnSerProMetAlaMetLeuThrLeuAsnSerAsnCysGluLysGluGlyPheTyrLysPheGluGluGlnAsnArgAlaGluSerGluCysProGlyMetAsnThrHisSerArgAlaSerCysMetGlnMetAspAspValIleAspAspIleIleSerLeuGluSerSerTyrAsnGluGluIleLeuGlyLeuMetAspProAlaLeuGlnMetAlaAsnThrLeuProValSerGlyAsnLeuIleAspLeuTyrGlyAsnGlnGlyLeuProProProGlyLeuThrIleSerAsnSerCysProAlaAsnLeuProAsnIleLysArgGluLeuThrGluSerGluAlaArgAlaLeuAlaLysGluArgGlnLysLysAspAsnHisAsnLeuIleGluArgArgArgArgPheAsnIleAsnAspArgIleLysGluLeuGlyThrLeuIleProLysSerAsnAspProAspMetArgTrpAsnLysGlyThrIleLeuLysAlaSerValAspTyrIleArgLysLeuGlnArgGluGlnGlnArgAlaLysGluLeuGluAsnArgGlnLysLysLeuGluHisAlaAsnArgHisLeuLeuLeuArgIleGlnGluLeuGluMetGlnAlaArgAlaHisGlyLeuSerLeuIleProSerThrGlyLeuCysSerProAspLeuValAsnArgIleIleLysGlnGluProValLeuGluAsnCysSerGlnAspLeuLeuGlnHisHisAlaAspLeuThrCysThrThrThrLeuAspLeuThrAspGlyThrIleThrPheAsnAsnAsnLeuGlyThrGlyThrGluAlaAsnGlnAlaTyrSerValProThrLysMetGlySerLysLeuGluAspIleLeuMetAspAspThrLeuSerProValGlyValThrAspProLeuLeuSerSerValSerProGlyAlaSerLysThrSerSerArgArgSerSerMetSerMetGluGluThrGluHisThrCysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS522551" }, { "@id": "http://reg.genome.network/allele/PA2741867466", "coordinates": [ { "allele": "G", "end": 642, "referenceAllele": "T", "start": 641 } ], "gene": "http://reg.genome.network/gene/GN007105", "geneNCBI_id": 4286, "geneSymbol": "MITF", "hgvs": [ "NM_001354608.1:c.284T>G" ], "proteinEffect": { "hgvs": "NP_001341537.1:p.Leu95Ter", "hgvsWellDefined": "NP_001341537.1:p.Leu95_Cys468delinsAlaAsnLysHisAlaAsnGlnValLeuSerLeuProCysProAsnGlnProGlyAspHisValMetProProValProGlySerSerAlaProAsnSerProMetAlaMetLeuThrLeuAsnSerAsnCysGluLysGluGlyPheTyrLysPheGluGluGlnAsnArgAlaGluSerGluCysProGlyMetAsnThrHisSerArgAlaSerCysMetGlnMetAspAspValIleAspAspIleIleSerLeuGluSerSerTyrAsnGluGluIleLeuGlyLeuMetAspProAlaLeuGlnMetAlaAsnThrLeuProValSerGlyAsnLeuIleAspLeuTyrGlyAsnGlnGlyLeuProProProGlyLeuThrIleSerAsnSerCysProAlaAsnLeuProAsnIleLysArgGluLeuThrGluSerGluAlaArgAlaLeuAlaLysGluArgGlnLysLysAspAsnHisAsnLeuIleGluArgArgArgArgPheAsnIleAsnAspArgIleLysGluLeuGlyThrLeuIleProLysSerAsnAspProAspMetArgTrpAsnLysGlyThrIleLeuLysAlaSerValAspTyrIleArgLysLeuGlnArgGluGlnGlnArgAlaLysGluLeuGluAsnArgGlnLysLysLeuGluHisAlaAsnArgHisLeuLeuLeuArgIleGlnGluLeuGluMetGlnAlaArgAlaHisGlyLeuSerLeuIleProSerThrGlyLeuCysSerProAspLeuValAsnArgIleIleLysGlnGluProValLeuGluAsnCysSerGlnAspLeuLeuGlnHisHisAlaAspLeuThrCysThrThrThrLeuAspLeuThrAspGlyThrIleThrPheAsnAsnAsnLeuGlyThrGlyThrGluAlaAsnGlnAlaTyrSerValProThrLysMetGlySerLysLeuGluAspIleLeuMetAspAspThrLeuSerProValGlyValThrAspProLeuLeuSerSerValSerProGlyAlaSerLysThrSerSerArgArgSerSerMetSerMetGluGluThrGluHisThrCysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS522552" }, { "@id": "http://reg.genome.network/allele/PA2826151249", "coordinates": [ { "allele": "G", "end": 525, "referenceAllele": "T", "start": 524 } ], "gene": "http://reg.genome.network/gene/GN007105", "geneNCBI_id": 4286, "geneSymbol": "MITF", "hgvs": [ "NM_001184967.2:c.284T>G" ], "proteinEffect": { "hgvs": "NP_001171896.1:p.Leu95Ter", "hgvsWellDefined": "NP_001171896.1:p.Leu95_Cys468delinsAlaAsnLysHisAlaAsnGlnValLeuSerLeuProCysProAsnGlnProGlyAspHisValMetProProValProGlySerSerAlaProAsnSerProMetAlaMetLeuThrLeuAsnSerAsnCysGluLysGluGlyPheTyrLysPheGluGluGlnAsnArgAlaGluSerGluCysProGlyMetAsnThrHisSerArgAlaSerCysMetGlnMetAspAspValIleAspAspIleIleSerLeuGluSerSerTyrAsnGluGluIleLeuGlyLeuMetAspProAlaLeuGlnMetAlaAsnThrLeuProValSerGlyAsnLeuIleAspLeuTyrGlyAsnGlnGlyLeuProProProGlyLeuThrIleSerAsnSerCysProAlaAsnLeuProAsnIleLysArgGluLeuThrGluSerGluAlaArgAlaLeuAlaLysGluArgGlnLysLysAspAsnHisAsnLeuIleGluArgArgArgArgPheAsnIleAsnAspArgIleLysGluLeuGlyThrLeuIleProLysSerAsnAspProAspMetArgTrpAsnLysGlyThrIleLeuLysAlaSerValAspTyrIleArgLysLeuGlnArgGluGlnGlnArgAlaLysGluLeuGluAsnArgGlnLysLysLeuGluHisAlaAsnArgHisLeuLeuLeuArgIleGlnGluLeuGluMetGlnAlaArgAlaHisGlyLeuSerLeuIleProSerThrGlyLeuCysSerProAspLeuValAsnArgIleIleLysGlnGluProValLeuGluAsnCysSerGlnAspLeuLeuGlnHisHisAlaAspLeuThrCysThrThrThrLeuAspLeuThrAspGlyThrIleThrPheAsnAsnAsnLeuGlyThrGlyThrGluAlaAsnGlnAlaTyrSerValProThrLysMetGlySerLysLeuGluAspIleLeuMetAspAspThrLeuSerProValGlyValThrAspProLeuLeuSerSerValSerProGlyAlaSerLysThrSerSerArgArgSerSerMetSerMetGluGluThrGluHisThrCysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS679051" }, { "@id": "http://reg.genome.network/allele/PA2826151615", "coordinates": [ { "allele": "G", "end": 250, "referenceAllele": "T", "start": 249 } ], "gene": "http://reg.genome.network/gene/GN007105", "geneNCBI_id": 4286, "geneSymbol": "MITF", "hgvs": [ "NM_001184968.2:c.119T>G" ], "proteinEffect": { "hgvs": "NP_001171897.1:p.Leu40Ter", "hgvsWellDefined": "NP_001171897.1:p.Leu40_Gln91delinsAlaAsnLysHisAlaAsnGlnValLeuSerLeuProCysProAsnGlnProGlyAspHisValMetProProValProGlySerSerAlaProAsnSerProMetAlaMetLeuThrLeuAsnSerAsnCysGluLysGluPheMetLysGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS679052" }, { "@id": "http://reg.genome.network/allele/PA2827881275", "coordinates": [ { "allele": "G", "end": 574, "referenceAllele": "T", "start": 573 } ], "gene": "http://reg.genome.network/gene/GN007105", "geneNCBI_id": 4286, "geneSymbol": "MITF", "hgvs": [ "NM_001354604.2:c.440T>G" ], "proteinEffect": { "hgvs": "NP_001341533.1:p.Leu147Ter", "hgvsWellDefined": "NP_001341533.1:p.Leu147_Cys526delinsAlaAsnLysHisAlaAsnGlnValLeuSerLeuProCysProAsnGlnProGlyAspHisValMetProProValProGlySerSerAlaProAsnSerProMetAlaMetLeuThrLeuAsnSerAsnCysGluLysGluGlyPheTyrLysPheGluGluGlnAsnArgAlaGluSerGluCysProGlyMetAsnThrHisSerArgAlaSerCysMetGlnMetAspAspValIleAspAspIleIleSerLeuGluSerSerTyrAsnGluGluIleLeuGlyLeuMetAspProAlaLeuGlnMetAlaAsnThrLeuProValSerGlyAsnLeuIleAspLeuTyrGlyAsnGlnGlyLeuProProProGlyLeuThrIleSerAsnSerCysProAlaAsnLeuProAsnIleLysArgGluLeuThrAlaCysIlePheProThrGluSerGluAlaArgAlaLeuAlaLysGluArgGlnLysLysAspAsnHisAsnLeuIleGluArgArgArgArgPheAsnIleAsnAspArgIleLysGluLeuGlyThrLeuIleProLysSerAsnAspProAspMetArgTrpAsnLysGlyThrIleLeuLysAlaSerValAspTyrIleArgLysLeuGlnArgGluGlnGlnArgAlaLysGluLeuGluAsnArgGlnLysLysLeuGluHisAlaAsnArgHisLeuLeuLeuArgIleGlnGluLeuGluMetGlnAlaArgAlaHisGlyLeuSerLeuIleProSerThrGlyLeuCysSerProAspLeuValAsnArgIleIleLysGlnGluProValLeuGluAsnCysSerGlnAspLeuLeuGlnHisHisAlaAspLeuThrCysThrThrThrLeuAspLeuThrAspGlyThrIleThrPheAsnAsnAsnLeuGlyThrGlyThrGluAlaAsnGlnAlaTyrSerValProThrLysMetGlySerLysLeuGluAspIleLeuMetAspAspThrLeuSerProValGlyValThrAspProLeuLeuSerSerValSerProGlyAlaSerLysThrSerSerArgArgSerSerMetSerMetGluGluThrGluHisThrCysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS690248", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000352241.9:c.440T>G" }, "RefSeq": { "hgvs": "NM_001354604.2:c.440T>G" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000295600.8:p.Leu147Ter" }, "RefSeq": { "hgvs": "NP_001341533.1:p.Leu147Ter" } } } }, { "@id": "http://reg.genome.network/allele/PA2827881477", "coordinates": [ { "allele": "G", "end": 571, "referenceAllele": "T", "start": 570 } ], "gene": "http://reg.genome.network/gene/GN007105", "geneNCBI_id": 4286, "geneSymbol": "MITF", "hgvs": [ "NM_001354605.2:c.437T>G" ], "proteinEffect": { "hgvs": "NP_001341534.1:p.Leu146Ter", "hgvsWellDefined": "NP_001341534.1:p.Leu146_Cys525delinsAlaAsnLysHisAlaAsnGlnValLeuSerLeuProCysProAsnGlnProGlyAspHisValMetProProValProGlySerSerAlaProAsnSerProMetAlaMetLeuThrLeuAsnSerAsnCysGluLysGluGlyPheTyrLysPheGluGluGlnAsnArgAlaGluSerGluCysProGlyMetAsnThrHisSerArgAlaSerCysMetGlnMetAspAspValIleAspAspIleIleSerLeuGluSerSerTyrAsnGluGluIleLeuGlyLeuMetAspProAlaLeuGlnMetAlaAsnThrLeuProValSerGlyAsnLeuIleAspLeuTyrGlyAsnGlnGlyLeuProProProGlyLeuThrIleSerAsnSerCysProAlaAsnLeuProAsnIleLysArgGluLeuThrAlaCysIlePheProThrGluSerGluAlaArgAlaLeuAlaLysGluArgGlnLysLysAspAsnHisAsnLeuIleGluArgArgArgArgPheAsnIleAsnAspArgIleLysGluLeuGlyThrLeuIleProLysSerAsnAspProAspMetArgTrpAsnLysGlyThrIleLeuLysAlaSerValAspTyrIleArgLysLeuGlnArgGluGlnGlnArgAlaLysGluLeuGluAsnArgGlnLysLysLeuGluHisAlaAsnArgHisLeuLeuLeuArgIleGlnGluLeuGluMetGlnAlaArgAlaHisGlyLeuSerLeuIleProSerThrGlyLeuCysSerProAspLeuValAsnArgIleIleLysGlnGluProValLeuGluAsnCysSerGlnAspLeuLeuGlnHisHisAlaAspLeuThrCysThrThrThrLeuAspLeuThrAspGlyThrIleThrPheAsnAsnAsnLeuGlyThrGlyThrGluAlaAsnGlnAlaTyrSerValProThrLysMetGlySerLysLeuGluAspIleLeuMetAspAspThrLeuSerProValGlyValThrAspProLeuLeuSerSerValSerProGlyAlaSerLysThrSerSerArgArgSerSerMetSerMetGluGluThrGluHisThrCysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS690249" }, { "@id": "http://reg.genome.network/allele/PA2827881850", "coordinates": [ { "allele": "G", "end": 571, "referenceAllele": "T", "start": 570 } ], "gene": "http://reg.genome.network/gene/GN007105", "geneNCBI_id": 4286, "geneSymbol": "MITF", "hgvs": [ "NM_001354606.2:c.437T>G" ], "proteinEffect": { "hgvs": "NP_001341535.1:p.Leu146Ter", "hgvsWellDefined": "NP_001341535.1:p.Leu146_Cys519delinsAlaAsnLysHisAlaAsnGlnValLeuSerLeuProCysProAsnGlnProGlyAspHisValMetProProValProGlySerSerAlaProAsnSerProMetAlaMetLeuThrLeuAsnSerAsnCysGluLysGluGlyPheTyrLysPheGluGluGlnAsnArgAlaGluSerGluCysProGlyMetAsnThrHisSerArgAlaSerCysMetGlnMetAspAspValIleAspAspIleIleSerLeuGluSerSerTyrAsnGluGluIleLeuGlyLeuMetAspProAlaLeuGlnMetAlaAsnThrLeuProValSerGlyAsnLeuIleAspLeuTyrGlyAsnGlnGlyLeuProProProGlyLeuThrIleSerAsnSerCysProAlaAsnLeuProAsnIleLysArgGluLeuThrGluSerGluAlaArgAlaLeuAlaLysGluArgGlnLysLysAspAsnHisAsnLeuIleGluArgArgArgArgPheAsnIleAsnAspArgIleLysGluLeuGlyThrLeuIleProLysSerAsnAspProAspMetArgTrpAsnLysGlyThrIleLeuLysAlaSerValAspTyrIleArgLysLeuGlnArgGluGlnGlnArgAlaLysGluLeuGluAsnArgGlnLysLysLeuGluHisAlaAsnArgHisLeuLeuLeuArgIleGlnGluLeuGluMetGlnAlaArgAlaHisGlyLeuSerLeuIleProSerThrGlyLeuCysSerProAspLeuValAsnArgIleIleLysGlnGluProValLeuGluAsnCysSerGlnAspLeuLeuGlnHisHisAlaAspLeuThrCysThrThrThrLeuAspLeuThrAspGlyThrIleThrPheAsnAsnAsnLeuGlyThrGlyThrGluAlaAsnGlnAlaTyrSerValProThrLysMetGlySerLysLeuGluAspIleLeuMetAspAspThrLeuSerProValGlyValThrAspProLeuLeuSerSerValSerProGlyAlaSerLysThrSerSerArgArgSerSerMetSerMetGluGluThrGluHisThrCysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS690250" }, { "@id": "http://reg.genome.network/allele/PA2827882217", "coordinates": [ { "allele": "G", "end": 703, "referenceAllele": "T", "start": 702 } ], "gene": "http://reg.genome.network/gene/GN007105", "geneNCBI_id": 4286, "geneSymbol": "MITF", "hgvs": [ "NM_001354607.2:c.389T>G" ], "proteinEffect": { "hgvs": "NP_001341536.1:p.Leu130Ter", "hgvsWellDefined": "NP_001341536.1:p.Leu130_Cys503delinsAlaAsnLysHisAlaAsnGlnValLeuSerLeuProCysProAsnGlnProGlyAspHisValMetProProValProGlySerSerAlaProAsnSerProMetAlaMetLeuThrLeuAsnSerAsnCysGluLysGluGlyPheTyrLysPheGluGluGlnAsnArgAlaGluSerGluCysProGlyMetAsnThrHisSerArgAlaSerCysMetGlnMetAspAspValIleAspAspIleIleSerLeuGluSerSerTyrAsnGluGluIleLeuGlyLeuMetAspProAlaLeuGlnMetAlaAsnThrLeuProValSerGlyAsnLeuIleAspLeuTyrGlyAsnGlnGlyLeuProProProGlyLeuThrIleSerAsnSerCysProAlaAsnLeuProAsnIleLysArgGluLeuThrGluSerGluAlaArgAlaLeuAlaLysGluArgGlnLysLysAspAsnHisAsnLeuIleGluArgArgArgArgPheAsnIleAsnAspArgIleLysGluLeuGlyThrLeuIleProLysSerAsnAspProAspMetArgTrpAsnLysGlyThrIleLeuLysAlaSerValAspTyrIleArgLysLeuGlnArgGluGlnGlnArgAlaLysGluLeuGluAsnArgGlnLysLysLeuGluHisAlaAsnArgHisLeuLeuLeuArgIleGlnGluLeuGluMetGlnAlaArgAlaHisGlyLeuSerLeuIleProSerThrGlyLeuCysSerProAspLeuValAsnArgIleIleLysGlnGluProValLeuGluAsnCysSerGlnAspLeuLeuGlnHisHisAlaAspLeuThrCysThrThrThrLeuAspLeuThrAspGlyThrIleThrPheAsnAsnAsnLeuGlyThrGlyThrGluAlaAsnGlnAlaTyrSerValProThrLysMetGlySerLysLeuGluAspIleLeuMetAspAspThrLeuSerProValGlyValThrAspProLeuLeuSerSerValSerProGlyAlaSerLysThrSerSerArgArgSerSerMetSerMetGluGluThrGluHisThrCysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS690251" }, { "@id": "http://reg.genome.network/allele/PA2741867466", "coordinates": [ { "allele": "G", "end": 613, "referenceAllele": "T", "start": 612 } ], "gene": "http://reg.genome.network/gene/GN007105", "geneNCBI_id": 4286, "geneSymbol": "MITF", "hgvs": [ "NM_001354608.2:c.284T>G" ], "proteinEffect": { "hgvs": "NP_001341537.1:p.Leu95Ter", "hgvsWellDefined": "NP_001341537.1:p.Leu95_Cys468delinsAlaAsnLysHisAlaAsnGlnValLeuSerLeuProCysProAsnGlnProGlyAspHisValMetProProValProGlySerSerAlaProAsnSerProMetAlaMetLeuThrLeuAsnSerAsnCysGluLysGluGlyPheTyrLysPheGluGluGlnAsnArgAlaGluSerGluCysProGlyMetAsnThrHisSerArgAlaSerCysMetGlnMetAspAspValIleAspAspIleIleSerLeuGluSerSerTyrAsnGluGluIleLeuGlyLeuMetAspProAlaLeuGlnMetAlaAsnThrLeuProValSerGlyAsnLeuIleAspLeuTyrGlyAsnGlnGlyLeuProProProGlyLeuThrIleSerAsnSerCysProAlaAsnLeuProAsnIleLysArgGluLeuThrGluSerGluAlaArgAlaLeuAlaLysGluArgGlnLysLysAspAsnHisAsnLeuIleGluArgArgArgArgPheAsnIleAsnAspArgIleLysGluLeuGlyThrLeuIleProLysSerAsnAspProAspMetArgTrpAsnLysGlyThrIleLeuLysAlaSerValAspTyrIleArgLysLeuGlnArgGluGlnGlnArgAlaLysGluLeuGluAsnArgGlnLysLysLeuGluHisAlaAsnArgHisLeuLeuLeuArgIleGlnGluLeuGluMetGlnAlaArgAlaHisGlyLeuSerLeuIleProSerThrGlyLeuCysSerProAspLeuValAsnArgIleIleLysGlnGluProValLeuGluAsnCysSerGlnAspLeuLeuGlnHisHisAlaAspLeuThrCysThrThrThrLeuAspLeuThrAspGlyThrIleThrPheAsnAsnAsnLeuGlyThrGlyThrGluAlaAsnGlnAlaTyrSerValProThrLysMetGlySerLysLeuGluAspIleLeuMetAspAspThrLeuSerProValGlyValThrAspProLeuLeuSerSerValSerProGlyAlaSerLysThrSerSerArgArgSerSerMetSerMetGluGluThrGluHisThrCysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS690252" }, { "@id": "http://reg.genome.network/allele/PA2830431112", "coordinates": [ { "allele": "G", "end": 250, "referenceAllele": "T", "start": 249 } ], "gene": "http://reg.genome.network/gene/GN007105", "geneNCBI_id": 4286, "geneSymbol": "MITF", "hgvs": [ "NM_198158.3:c.119T>G" ], "proteinEffect": { "hgvs": "NP_937801.1:p.Leu40Ter", "hgvsWellDefined": "NP_937801.1:p.Leu40_Cys413delinsAlaAsnLysHisAlaAsnGlnValLeuSerLeuProCysProAsnGlnProGlyAspHisValMetProProValProGlySerSerAlaProAsnSerProMetAlaMetLeuThrLeuAsnSerAsnCysGluLysGluGlyPheTyrLysPheGluGluGlnAsnArgAlaGluSerGluCysProGlyMetAsnThrHisSerArgAlaSerCysMetGlnMetAspAspValIleAspAspIleIleSerLeuGluSerSerTyrAsnGluGluIleLeuGlyLeuMetAspProAlaLeuGlnMetAlaAsnThrLeuProValSerGlyAsnLeuIleAspLeuTyrGlyAsnGlnGlyLeuProProProGlyLeuThrIleSerAsnSerCysProAlaAsnLeuProAsnIleLysArgGluLeuThrGluSerGluAlaArgAlaLeuAlaLysGluArgGlnLysLysAspAsnHisAsnLeuIleGluArgArgArgArgPheAsnIleAsnAspArgIleLysGluLeuGlyThrLeuIleProLysSerAsnAspProAspMetArgTrpAsnLysGlyThrIleLeuLysAlaSerValAspTyrIleArgLysLeuGlnArgGluGlnGlnArgAlaLysGluLeuGluAsnArgGlnLysLysLeuGluHisAlaAsnArgHisLeuLeuLeuArgIleGlnGluLeuGluMetGlnAlaArgAlaHisGlyLeuSerLeuIleProSerThrGlyLeuCysSerProAspLeuValAsnArgIleIleLysGlnGluProValLeuGluAsnCysSerGlnAspLeuLeuGlnHisHisAlaAspLeuThrCysThrThrThrLeuAspLeuThrAspGlyThrIleThrPheAsnAsnAsnLeuGlyThrGlyThrGluAlaAsnGlnAlaTyrSerValProThrLysMetGlySerLysLeuGluAspIleLeuMetAspAspThrLeuSerProValGlyValThrAspProLeuLeuSerSerValSerProGlyAlaSerLysThrSerSerArgArgSerSerMetSerMetGluGluThrGluHisThrCysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS701263" }, { "@id": "http://reg.genome.network/allele/PA2830431653", "coordinates": [ { "allele": "G", "end": 574, "referenceAllele": "T", "start": 573 } ], "gene": "http://reg.genome.network/gene/GN007105", "geneNCBI_id": 4286, "geneSymbol": "MITF", "hgvs": [ "NM_198159.3:c.440T>G" ], "proteinEffect": { "hgvs": "NP_937802.1:p.Leu147Ter", "hgvsWellDefined": "NP_937802.1:p.Leu147_Cys520delinsAlaAsnLysHisAlaAsnGlnValLeuSerLeuProCysProAsnGlnProGlyAspHisValMetProProValProGlySerSerAlaProAsnSerProMetAlaMetLeuThrLeuAsnSerAsnCysGluLysGluGlyPheTyrLysPheGluGluGlnAsnArgAlaGluSerGluCysProGlyMetAsnThrHisSerArgAlaSerCysMetGlnMetAspAspValIleAspAspIleIleSerLeuGluSerSerTyrAsnGluGluIleLeuGlyLeuMetAspProAlaLeuGlnMetAlaAsnThrLeuProValSerGlyAsnLeuIleAspLeuTyrGlyAsnGlnGlyLeuProProProGlyLeuThrIleSerAsnSerCysProAlaAsnLeuProAsnIleLysArgGluLeuThrGluSerGluAlaArgAlaLeuAlaLysGluArgGlnLysLysAspAsnHisAsnLeuIleGluArgArgArgArgPheAsnIleAsnAspArgIleLysGluLeuGlyThrLeuIleProLysSerAsnAspProAspMetArgTrpAsnLysGlyThrIleLeuLysAlaSerValAspTyrIleArgLysLeuGlnArgGluGlnGlnArgAlaLysGluLeuGluAsnArgGlnLysLysLeuGluHisAlaAsnArgHisLeuLeuLeuArgIleGlnGluLeuGluMetGlnAlaArgAlaHisGlyLeuSerLeuIleProSerThrGlyLeuCysSerProAspLeuValAsnArgIleIleLysGlnGluProValLeuGluAsnCysSerGlnAspLeuLeuGlnHisHisAlaAspLeuThrCysThrThrThrLeuAspLeuThrAspGlyThrIleThrPheAsnAsnAsnLeuGlyThrGlyThrGluAlaAsnGlnAlaTyrSerValProThrLysMetGlySerLysLeuGluAspIleLeuMetAspAspThrLeuSerProValGlyValThrAspProLeuLeuSerSerValSerProGlyAlaSerLysThrSerSerArgArgSerSerMetSerMetGluGluThrGluHisThrCysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS701264" }, { "@id": "http://reg.genome.network/allele/PA2830432552", "coordinates": [ { "allele": "G", "end": 459, "referenceAllele": "T", "start": 458 } ], "gene": "http://reg.genome.network/gene/GN007105", "geneNCBI_id": 4286, "geneSymbol": "MITF", "hgvs": [ "NM_198177.3:c.392T>G" ], "proteinEffect": { "hgvs": "NP_937820.1:p.Leu131Ter", "hgvsWellDefined": "NP_937820.1:p.Leu131_Cys504delinsAlaAsnLysHisAlaAsnGlnValLeuSerLeuProCysProAsnGlnProGlyAspHisValMetProProValProGlySerSerAlaProAsnSerProMetAlaMetLeuThrLeuAsnSerAsnCysGluLysGluGlyPheTyrLysPheGluGluGlnAsnArgAlaGluSerGluCysProGlyMetAsnThrHisSerArgAlaSerCysMetGlnMetAspAspValIleAspAspIleIleSerLeuGluSerSerTyrAsnGluGluIleLeuGlyLeuMetAspProAlaLeuGlnMetAlaAsnThrLeuProValSerGlyAsnLeuIleAspLeuTyrGlyAsnGlnGlyLeuProProProGlyLeuThrIleSerAsnSerCysProAlaAsnLeuProAsnIleLysArgGluLeuThrGluSerGluAlaArgAlaLeuAlaLysGluArgGlnLysLysAspAsnHisAsnLeuIleGluArgArgArgArgPheAsnIleAsnAspArgIleLysGluLeuGlyThrLeuIleProLysSerAsnAspProAspMetArgTrpAsnLysGlyThrIleLeuLysAlaSerValAspTyrIleArgLysLeuGlnArgGluGlnGlnArgAlaLysGluLeuGluAsnArgGlnLysLysLeuGluHisAlaAsnArgHisLeuLeuLeuArgIleGlnGluLeuGluMetGlnAlaArgAlaHisGlyLeuSerLeuIleProSerThrGlyLeuCysSerProAspLeuValAsnArgIleIleLysGlnGluProValLeuGluAsnCysSerGlnAspLeuLeuGlnHisHisAlaAspLeuThrCysThrThrThrLeuAspLeuThrAspGlyThrIleThrPheAsnAsnAsnLeuGlyThrGlyThrGluAlaAsnGlnAlaTyrSerValProThrLysMetGlySerLysLeuGluAspIleLeuMetAspAspThrLeuSerProValGlyValThrAspProLeuLeuSerSerValSerProGlyAlaSerLysThrSerSerArgArgSerSerMetSerMetGluGluThrGluHisThrCysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS701267" }, { "coordinates": [ { "allele": "G", "end": 224, "endIntronDirection": "+", "endIntronOffset": 26, "referenceAllele": "T", "start": 224, "startIntronDirection": "+", "startIntronOffset": 25 } ], "gene": "http://reg.genome.network/gene/GN007105", "geneNCBI_id": 4286, "geneSymbol": "MITF", "hgvs": [ "NM_198178.3:c.93+26T>G" ], "proteinEffect": { "hgvs": "NP_937821.2:n.93+26T>G" }, "referenceSequence": "http://reg.genome.network/refseq/RS701268" }, { "@id": "http://reg.genome.network/allele/PA2825105440", "coordinates": [ { "allele": "G", "end": 250, "referenceAllele": "T", "start": 249 } ], "gene": "http://reg.genome.network/gene/GN007105", "geneNCBI_id": 4286, "geneSymbol": "MITF", "hgvs": [ "NM_000248.4:c.119T>G" ], "proteinEffect": { "hgvs": "NP_000239.1:p.Leu40Ter", "hgvsWellDefined": "NP_000239.1:p.Leu40_Cys419delinsAlaAsnLysHisAlaAsnGlnValLeuSerLeuProCysProAsnGlnProGlyAspHisValMetProProValProGlySerSerAlaProAsnSerProMetAlaMetLeuThrLeuAsnSerAsnCysGluLysGluGlyPheTyrLysPheGluGluGlnAsnArgAlaGluSerGluCysProGlyMetAsnThrHisSerArgAlaSerCysMetGlnMetAspAspValIleAspAspIleIleSerLeuGluSerSerTyrAsnGluGluIleLeuGlyLeuMetAspProAlaLeuGlnMetAlaAsnThrLeuProValSerGlyAsnLeuIleAspLeuTyrGlyAsnGlnGlyLeuProProProGlyLeuThrIleSerAsnSerCysProAlaAsnLeuProAsnIleLysArgGluLeuThrAlaCysIlePheProThrGluSerGluAlaArgAlaLeuAlaLysGluArgGlnLysLysAspAsnHisAsnLeuIleGluArgArgArgArgPheAsnIleAsnAspArgIleLysGluLeuGlyThrLeuIleProLysSerAsnAspProAspMetArgTrpAsnLysGlyThrIleLeuLysAlaSerValAspTyrIleArgLysLeuGlnArgGluGlnGlnArgAlaLysGluLeuGluAsnArgGlnLysLysLeuGluHisAlaAsnArgHisLeuLeuLeuArgIleGlnGluLeuGluMetGlnAlaArgAlaHisGlyLeuSerLeuIleProSerThrGlyLeuCysSerProAspLeuValAsnArgIleIleLysGlnGluProValLeuGluAsnCysSerGlnAspLeuLeuGlnHisHisAlaAspLeuThrCysThrThrThrLeuAspLeuThrAspGlyThrIleThrPheAsnAsnAsnLeuGlyThrGlyThrGluAlaAsnGlnAlaTyrSerValProThrLysMetGlySerLysLeuGluAspIleLeuMetAspAspThrLeuSerProValGlyValThrAspProLeuLeuSerSerValSerProGlyAlaSerLysThrSerSerArgArgSerSerMetSerMetGluGluThrGluHisThrCysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS710814", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Plus Clinical", "nucleotide": { "Ensembl": { "hgvs": "ENST00000394351.9:c.119T>G" }, "RefSeq": { "hgvs": "NM_000248.4:c.119T>G" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000377880.3:p.Leu40Ter" }, "RefSeq": { "hgvs": "NP_000239.1:p.Leu40Ter" } } } }, { "@id": "http://reg.genome.network/allele/PA2829651009", "coordinates": [ { "allele": "G", "end": 468, "referenceAllele": "T", "start": 467 } ], "gene": "http://reg.genome.network/gene/GN007105", "geneNCBI_id": 4286, "geneSymbol": "MITF", "hgvs": [ "NM_006722.3:c.437T>G" ], "proteinEffect": { "hgvs": "NP_006713.1:p.Leu146Ter", "hgvsWellDefined": "NP_006713.1:p.Leu146_Cys519delinsAlaAsnLysHisAlaAsnGlnValLeuSerLeuProCysProAsnGlnProGlyAspHisValMetProProValProGlySerSerAlaProAsnSerProMetAlaMetLeuThrLeuAsnSerAsnCysGluLysGluGlyPheTyrLysPheGluGluGlnAsnArgAlaGluSerGluCysProGlyMetAsnThrHisSerArgAlaSerCysMetGlnMetAspAspValIleAspAspIleIleSerLeuGluSerSerTyrAsnGluGluIleLeuGlyLeuMetAspProAlaLeuGlnMetAlaAsnThrLeuProValSerGlyAsnLeuIleAspLeuTyrGlyAsnGlnGlyLeuProProProGlyLeuThrIleSerAsnSerCysProAlaAsnLeuProAsnIleLysArgGluLeuThrGluSerGluAlaArgAlaLeuAlaLysGluArgGlnLysLysAspAsnHisAsnLeuIleGluArgArgArgArgPheAsnIleAsnAspArgIleLysGluLeuGlyThrLeuIleProLysSerAsnAspProAspMetArgTrpAsnLysGlyThrIleLeuLysAlaSerValAspTyrIleArgLysLeuGlnArgGluGlnGlnArgAlaLysGluLeuGluAsnArgGlnLysLysLeuGluHisAlaAsnArgHisLeuLeuLeuArgIleGlnGluLeuGluMetGlnAlaArgAlaHisGlyLeuSerLeuIleProSerThrGlyLeuCysSerProAspLeuValAsnArgIleIleLysGlnGluProValLeuGluAsnCysSerGlnAspLeuLeuGlnHisHisAlaAspLeuThrCysThrThrThrLeuAspLeuThrAspGlyThrIleThrPheAsnAsnAsnLeuGlyThrGlyThrGluAlaAsnGlnAlaTyrSerValProThrLysMetGlySerLysLeuGluAspIleLeuMetAspAspThrLeuSerProValGlyValThrAspProLeuLeuSerSerValSerProGlyAlaSerLysThrSerSerArgArgSerSerMetSerMetGluGluThrGluHisThrCysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS727772" } ], "type": "nucleotide" }