{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA645516765", "communityStandardTitle": [ "NM_000222.3(KIT):c.1655_1669del (p.Met552_Trp557delinsArg)" ], "externalRecords": { "COSMIC": [ { "@id": "http://cancer.sanger.ac.uk/cosmic/mutation/overview?id=133636", "active": true, "id": "COSM133636" } ] }, "genomicAlleles": [ { "chromosome": "4", "coordinates": [ { "allele": "", "end": 54727437, "referenceAllele": "TGTATGAAGTACAGT", "start": 54727422 } ], "hgvs": [ "NC_000004.12:g.54727423_54727437del", "CM000666.2:g.54727423_54727437del" ], "referenceGenome": "GRCh38", "referenceSequence": "http://reg.genome.network/refseq/RS000052" }, { "chromosome": "4", "coordinates": [ { "allele": "", "end": 55593603, "referenceAllele": "TGTATGAAGTACAGT", "start": 55593588 } ], "hgvs": [ "NC_000004.11:g.55593589_55593603del", "CM000666.1:g.55593589_55593603del" ], "referenceGenome": "GRCh37", "referenceSequence": "http://reg.genome.network/refseq/RS000028" }, { "chromosome": "4", "coordinates": [ { "allele": "", "end": 55288360, "referenceAllele": "TGTATGAAGTACAGT", "start": 55288345 } ], "hgvs": [ "NC_000004.10:g.55288346_55288360del" ], "referenceGenome": "NCBI36", "referenceSequence": "http://reg.genome.network/refseq/RS000004" }, { "coordinates": [ { "allele": "", "end": 74443, "referenceAllele": "TGTATGAAGTACAGT", "start": 74428 } ], "hgvs": [ "NG_007456.1:g.74429_74443del", "LRG_307:g.74429_74443del" ], "referenceSequence": "http://reg.genome.network/refseq/RS000582" } ], "transcriptAlleles": [ { "coordinates": [ { "allele": "", "end": 1752, "referenceAllele": "TGTATGAAGTACAGT", "start": 1737 } ], "gene": "http://reg.genome.network/gene/GN006342", "geneNCBI_id": 3815, "geneSymbol": "KIT", "hgvs": [ "ENST00000412167.7:c.1646_1660del" ], "proteinEffect": { "hgvs": "ENSP00000390987.3:p.Met549_Trp554delinsArg", "hgvsWellDefined": "ENSP00000390987.3:p.Met549_Trp554delinsArg" }, "referenceSequence": "http://reg.genome.network/refseq/RS824624" }, { "coordinates": [ { "allele": "", "end": 1747, "referenceAllele": "TGTATGAAGTACAGT", "start": 1732 } ], "gene": "http://reg.genome.network/gene/GN006342", "geneNCBI_id": 3815, "geneSymbol": "KIT", "hgvs": [ "ENST00000685269.1:n.1733_1747del" ], "referenceSequence": "http://reg.genome.network/refseq/RS829977" }, { "coordinates": [ { "allele": "", "end": 1730, "referenceAllele": "TGTATGAAGTACAGT", "start": 1715 } ], "gene": "http://reg.genome.network/gene/GN006342", "geneNCBI_id": 3815, "geneSymbol": "KIT", "hgvs": [ "ENST00000686011.1:c.1643_1657del" ], "proteinEffect": { "hgvs": "ENSP00000509704.1:p.Met548_Trp553delinsArg", "hgvsWellDefined": "ENSP00000509704.1:p.Met548_Trp553delinsArg" }, "referenceSequence": "http://reg.genome.network/refseq/RS830351" }, { "coordinates": [ { "allele": "", "end": 1774, "referenceAllele": "TGTATGAAGTACAGT", "start": 1759 } ], "gene": "http://reg.genome.network/gene/GN006342", "geneNCBI_id": 3815, "geneSymbol": "KIT", "hgvs": [ "ENST00000687109.1:c.1658_1672del" ], "proteinEffect": { "hgvs": "ENSP00000509371.1:p.Met553_Trp558delinsArg", "hgvsWellDefined": "ENSP00000509371.1:p.Met553_Trp558delinsArg" }, "referenceSequence": "http://reg.genome.network/refseq/RS830913" }, { "coordinates": [ { "allele": "", "end": 2084, "referenceAllele": "TGTATGAAGTACAGT", "start": 2069 } ], "gene": "http://reg.genome.network/gene/GN006342", "geneNCBI_id": 3815, "geneSymbol": "KIT", "hgvs": [ "ENST00000687208.1:n.2070_2084del" ], "referenceSequence": "http://reg.genome.network/refseq/RS830972" }, { "coordinates": [ { "allele": "", "end": 1725, "referenceAllele": "TGTATGAAGTACAGT", "start": 1710 } ], "gene": "http://reg.genome.network/gene/GN006342", "geneNCBI_id": 3815, "geneSymbol": "KIT", "hgvs": [ "ENST00000687246.1:c.1643_1657del" ], "proteinEffect": { "hgvs": "ENSP00000509114.1:p.Met548_Trp553delinsArg", "hgvsWellDefined": "ENSP00000509114.1:p.Met548_Trp553delinsArg" }, "referenceSequence": "http://reg.genome.network/refseq/RS830998" }, { "coordinates": [ { "allele": "", "end": 1827, "referenceAllele": "TGTATGAAGTACAGT", "start": 1812 } ], "gene": "http://reg.genome.network/gene/GN006342", "geneNCBI_id": 3815, "geneSymbol": "KIT", "hgvs": [ "ENST00000687265.1:n.1813_1827del" ], "referenceSequence": "http://reg.genome.network/refseq/RS831006" }, { "coordinates": [ { "allele": "", "end": 1783, "referenceAllele": "TGTATGAAGTACAGT", "start": 1768 } ], "gene": "http://reg.genome.network/gene/GN006342", "geneNCBI_id": 3815, "geneSymbol": "KIT", "hgvs": [ "ENST00000687295.1:c.1643_1657del" ], "proteinEffect": { "hgvs": "ENSP00000509450.1:p.Met548_Trp553delinsArg", "hgvsWellDefined": "ENSP00000509450.1:p.Met548_Trp553delinsArg" }, "referenceSequence": "http://reg.genome.network/refseq/RS831020" }, { "coordinates": [ { "allele": "", "end": 1720, "referenceAllele": "TGTATGAAGTACAGT", "start": 1705 } ], "gene": "http://reg.genome.network/gene/GN006342", "geneNCBI_id": 3815, "geneSymbol": "KIT", "hgvs": [ "ENST00000689832.1:c.1658_1672del" ], "proteinEffect": { "hgvs": "ENSP00000509084.1:p.Met553_Trp558delinsArg", "hgvsWellDefined": "ENSP00000509084.1:p.Met553_Trp558delinsArg" }, "referenceSequence": "http://reg.genome.network/refseq/RS832391" }, { "coordinates": [ { "allele": "", "end": 1691, "referenceAllele": "TGTATGAAGTACAGT", "start": 1676 } ], "gene": "http://reg.genome.network/gene/GN006342", "geneNCBI_id": 3815, "geneSymbol": "KIT", "hgvs": [ "ENST00000689994.1:c.1145_1159del" ], "proteinEffect": { "hgvs": "ENSP00000509156.1:p.Met382_Trp387delinsArg", "hgvsWellDefined": "ENSP00000509156.1:p.Met382_Trp387delinsArg" }, "referenceSequence": "http://reg.genome.network/refseq/RS832482" }, { "coordinates": [ { "allele": "", "end": 1718, "referenceAllele": "TGTATGAAGTACAGT", "start": 1703 } ], "gene": "http://reg.genome.network/gene/GN006342", "geneNCBI_id": 3815, "geneSymbol": "KIT", "hgvs": [ "ENST00000690543.1:c.1646_1660del" ], "proteinEffect": { "hgvs": "ENSP00000508831.1:p.Met549_Trp554delinsArg", "hgvsWellDefined": "ENSP00000508831.1:p.Met549_Trp554delinsArg" }, "referenceSequence": "http://reg.genome.network/refseq/RS832753" }, { "coordinates": [ { "allele": "", "end": 1887, "referenceAllele": "TGTATGAAGTACAGT", "start": 1872 } ], "gene": "http://reg.genome.network/gene/GN006342", "geneNCBI_id": 3815, "geneSymbol": "KIT", "hgvs": [ "ENST00000690917.1:n.1873_1887del" ], "referenceSequence": "http://reg.genome.network/refseq/RS832943" }, { "coordinates": [ { "allele": "", "end": 579, "referenceAllele": "TGTATGAAGTACAGT", "start": 564 } ], "gene": "http://reg.genome.network/gene/GN006342", "geneNCBI_id": 3815, "geneSymbol": "KIT", "hgvs": [ "ENST00000691361.1:n.565_579del" ], "referenceSequence": "http://reg.genome.network/refseq/RS833177" }, { "coordinates": [ { "allele": "", "end": 1761, "referenceAllele": "TGTATGAAGTACAGT", "start": 1746 } ], "gene": "http://reg.genome.network/gene/GN006342", "geneNCBI_id": 3815, "geneSymbol": "KIT", "hgvs": [ "ENST00000692783.1:c.1655_1669del" ], "proteinEffect": { "hgvs": "ENSP00000508733.1:p.Met552_Trp557delinsArg", "hgvsWellDefined": "ENSP00000508733.1:p.Met552_Trp557delinsArg" }, "referenceSequence": "http://reg.genome.network/refseq/RS833884" }, { "coordinates": [ { "allele": "", "end": 1766, "referenceAllele": "TGTATGAAGTACAGT", "start": 1751 } ], "gene": "http://reg.genome.network/gene/GN006342", "geneNCBI_id": 3815, "geneSymbol": "KIT", "hgvs": [ "ENST00000692991.1:n.1752_1766del" ], "referenceSequence": "http://reg.genome.network/refseq/RS834006" }, { "coordinates": [ { "allele": "", "end": 1727, "referenceAllele": "TGTATGAAGTACAGT", "start": 1712 } ], "gene": "http://reg.genome.network/gene/GN006342", "geneNCBI_id": 3815, "geneSymbol": "KIT", "hgvs": [ "ENST00000288135.6:c.1655_1669del" ], "proteinEffect": { "hgvs": "ENSP00000288135.6:p.Met552_Trp557delinsArg", "hgvsWellDefined": "ENSP00000288135.6:p.Met552_Trp557delinsArg" }, "referenceSequence": "http://reg.genome.network/refseq/RS743936", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000288135.6:c.1655_1669del" }, "RefSeq": { "hgvs": "NM_000222.3:c.1655_1669del" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000288135.6:p.Met552_Trp557delinsArg" }, "RefSeq": { "hgvs": "NP_000213.1:p.Met552_Trp557delinsArg" } } } }, { "coordinates": [ { "allele": "", "end": 1766, "referenceAllele": "TGTATGAAGTACAGT", "start": 1751 } ], "gene": "http://reg.genome.network/gene/GN006342", "geneNCBI_id": 3815, "geneSymbol": "KIT", "hgvs": [ "ENST00000288135.5:c.1655_1669del" ], "proteinEffect": { "hgvs": "ENSP00000288135.5:p.Met552_Trp557delinsArg", "hgvsWellDefined": "ENSP00000288135.5:p.Met552_Trp557delinsArg" }, "referenceSequence": "http://reg.genome.network/refseq/RS253496" }, { "coordinates": [ { "allele": "", "end": 1754, "referenceAllele": "TGTATGAAGTACAGT", "start": 1739 } ], "gene": "http://reg.genome.network/gene/GN006342", "geneNCBI_id": 3815, "geneSymbol": "KIT", "hgvs": [ "ENST00000412167.6:c.1643_1657del" ], "proteinEffect": { "hgvs": "ENSP00000390987.2:p.Met548_Trp553delinsArg", "hgvsWellDefined": "ENSP00000390987.2:p.Met548_Trp553delinsArg" }, "referenceSequence": "http://reg.genome.network/refseq/RS282486" }, { "coordinates": [ { "allele": "", "end": 1756, "referenceAllele": "TGTATGAAGTACAGT", "start": 1741 } ], "gene": "http://reg.genome.network/gene/GN006342", "geneNCBI_id": 3815, "geneSymbol": "KIT", "hgvs": [ "NM_000222.2:c.1655_1669del", "LRG_307t1:c.1655_1669del" ], "proteinEffect": { "hgvs": "NP_000213.1:p.Met552_Trp557delinsArg", "hgvsWellDefined": "NP_000213.1:p.Met552_Trp557delinsArg" }, "referenceSequence": "http://reg.genome.network/refseq/RS006286" }, { "coordinates": [ { "allele": "", "end": 1744, "referenceAllele": "TGTATGAAGTACAGT", "start": 1729 } ], "gene": "http://reg.genome.network/gene/GN006342", "geneNCBI_id": 3815, "geneSymbol": "KIT", "hgvs": [ "NM_001093772.1:c.1643_1657del" ], "proteinEffect": { "hgvs": "NP_001087241.1:p.Met548_Trp553delinsArg", "hgvsWellDefined": "NP_001087241.1:p.Met548_Trp553delinsArg" }, "referenceSequence": "http://reg.genome.network/refseq/RS010514" }, { "coordinates": [ { "allele": "", "end": 1730, "referenceAllele": "TGTATGAAGTACAGT", "start": 1715 } ], "gene": "http://reg.genome.network/gene/GN006342", "geneNCBI_id": 3815, "geneSymbol": "KIT", "hgvs": [ "XM_005265740.1:c.1658_1672del" ], "proteinEffect": { "hgvs": "XP_005265797.1:p.Met553_Trp558delinsArg", "hgvsWellDefined": "XP_005265797.1:p.Met553_Trp558delinsArg" }, "referenceSequence": "http://reg.genome.network/refseq/RS064764" }, { "coordinates": [ { "allele": "", "end": 1730, "referenceAllele": "TGTATGAAGTACAGT", "start": 1715 } ], "gene": "http://reg.genome.network/gene/GN006342", "geneNCBI_id": 3815, "geneSymbol": "KIT", "hgvs": [ "XM_005265741.1:c.1658_1672del" ], "proteinEffect": { "hgvs": "XP_005265798.1:p.Met553_Trp558delinsArg", "hgvsWellDefined": "XP_005265798.1:p.Met553_Trp558delinsArg" }, "referenceSequence": "http://reg.genome.network/refseq/RS064765" }, { "coordinates": [ { "allele": "", "end": 1718, "referenceAllele": "TGTATGAAGTACAGT", "start": 1703 } ], "gene": "http://reg.genome.network/gene/GN006342", "geneNCBI_id": 3815, "geneSymbol": "KIT", "hgvs": [ "XM_005265742.1:c.1646_1660del" ], "proteinEffect": { "hgvs": "XP_005265799.1:p.Met549_Trp554delinsArg", "hgvsWellDefined": "XP_005265799.1:p.Met549_Trp554delinsArg" }, "referenceSequence": "http://reg.genome.network/refseq/RS064766" }, { "coordinates": [ { "allele": "", "end": 1718, "referenceAllele": "TGTATGAAGTACAGT", "start": 1703 } ], "gene": "http://reg.genome.network/gene/GN006342", "geneNCBI_id": 3815, "geneSymbol": "KIT", "hgvs": [ "XM_005265742.3:c.1646_1660del" ], "proteinEffect": { "hgvs": "XP_005265799.1:p.Met549_Trp554delinsArg", "hgvsWellDefined": "XP_005265799.1:p.Met549_Trp554delinsArg" }, "referenceSequence": "http://reg.genome.network/refseq/RS536112" }, { "coordinates": [ { "allele": "", "end": 1727, "referenceAllele": "TGTATGAAGTACAGT", "start": 1712 } ], "gene": "http://reg.genome.network/gene/GN006342", "geneNCBI_id": 3815, "geneSymbol": "KIT", "hgvs": [ "XM_017008178.1:c.1655_1669del" ], "proteinEffect": { "hgvs": "XP_016863667.1:p.Met552_Trp557delinsArg", "hgvsWellDefined": "XP_016863667.1:p.Met552_Trp557delinsArg" }, "referenceSequence": "http://reg.genome.network/refseq/RS562733" }, { "coordinates": [ { "allele": "", "end": 1718, "referenceAllele": "TGTATGAAGTACAGT", "start": 1703 } ], "gene": "http://reg.genome.network/gene/GN006342", "geneNCBI_id": 3815, "geneSymbol": "KIT", "hgvs": [ "XM_017008179.1:c.1646_1660del" ], "proteinEffect": { "hgvs": "XP_016863668.1:p.Met549_Trp554delinsArg", "hgvsWellDefined": "XP_016863668.1:p.Met549_Trp554delinsArg" }, "referenceSequence": "http://reg.genome.network/refseq/RS562734" }, { "coordinates": [ { "allele": "", "end": 1715, "referenceAllele": "TGTATGAAGTACAGT", "start": 1700 } ], "gene": "http://reg.genome.network/gene/GN006342", "geneNCBI_id": 3815, "geneSymbol": "KIT", "hgvs": [ "XM_017008180.1:c.1643_1657del" ], "proteinEffect": { "hgvs": "XP_016863669.1:p.Met548_Trp553delinsArg", "hgvsWellDefined": "XP_016863669.1:p.Met548_Trp553delinsArg" }, "referenceSequence": "http://reg.genome.network/refseq/RS562735" }, { "coordinates": [ { "allele": "", "end": 1727, "referenceAllele": "TGTATGAAGTACAGT", "start": 1712 } ], "gene": "http://reg.genome.network/gene/GN006342", "geneNCBI_id": 3815, "geneSymbol": "KIT", "hgvs": [ "NM_000222.3:c.1655_1669del" ], "proteinEffect": { "hgvs": "NP_000213.1:p.Met552_Trp557delinsArg", "hgvsWellDefined": "NP_000213.1:p.Met552_Trp557delinsArg" }, "referenceSequence": "http://reg.genome.network/refseq/RS674751", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000288135.6:c.1655_1669del" }, "RefSeq": { "hgvs": "NM_000222.3:c.1655_1669del" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000288135.6:p.Met552_Trp557delinsArg" }, "RefSeq": { "hgvs": "NP_000213.1:p.Met552_Trp557delinsArg" } } } }, { "coordinates": [ { "allele": "", "end": 1715, "referenceAllele": "TGTATGAAGTACAGT", "start": 1700 } ], "gene": "http://reg.genome.network/gene/GN006342", "geneNCBI_id": 3815, "geneSymbol": "KIT", "hgvs": [ "NM_001093772.2:c.1643_1657del" ], "proteinEffect": { "hgvs": "NP_001087241.1:p.Met548_Trp553delinsArg", "hgvsWellDefined": "NP_001087241.1:p.Met548_Trp553delinsArg" }, "referenceSequence": "http://reg.genome.network/refseq/RS711888" }, { "coordinates": [ { "allele": "", "end": 1730, "referenceAllele": "TGTATGAAGTACAGT", "start": 1715 } ], "gene": "http://reg.genome.network/gene/GN006342", "geneNCBI_id": 3815, "geneSymbol": "KIT", "hgvs": [ "NM_001385284.1:c.1658_1672del" ], "proteinEffect": { "hgvs": "NP_001372213.1:p.Met553_Trp558delinsArg", "hgvsWellDefined": "NP_001372213.1:p.Met553_Trp558delinsArg" }, "referenceSequence": "http://reg.genome.network/refseq/RS723620" }, { "coordinates": [ { "allele": "", "end": 1727, "referenceAllele": "TGTATGAAGTACAGT", "start": 1712 } ], "gene": "http://reg.genome.network/gene/GN006342", "geneNCBI_id": 3815, "geneSymbol": "KIT", "hgvs": [ "NM_001385285.1:c.1655_1669del" ], "proteinEffect": { "hgvs": "NP_001372214.1:p.Met552_Trp557delinsArg", "hgvsWellDefined": "NP_001372214.1:p.Met552_Trp557delinsArg" }, "referenceSequence": "http://reg.genome.network/refseq/RS723621" }, { "coordinates": [ { "allele": "", "end": 1715, "referenceAllele": "TGTATGAAGTACAGT", "start": 1700 } ], "gene": "http://reg.genome.network/gene/GN006342", "geneNCBI_id": 3815, "geneSymbol": "KIT", "hgvs": [ "NM_001385286.1:c.1643_1657del" ], "proteinEffect": { "hgvs": "NP_001372215.1:p.Met548_Trp553delinsArg", "hgvsWellDefined": "NP_001372215.1:p.Met548_Trp553delinsArg" }, "referenceSequence": "http://reg.genome.network/refseq/RS723622" }, { "coordinates": [ { "allele": "", "end": 1718, "referenceAllele": "TGTATGAAGTACAGT", "start": 1703 } ], "gene": "http://reg.genome.network/gene/GN006342", "geneNCBI_id": 3815, "geneSymbol": "KIT", "hgvs": [ "NM_001385288.1:c.1646_1660del" ], "proteinEffect": { "hgvs": "NP_001372217.1:p.Met549_Trp554delinsArg", "hgvsWellDefined": "NP_001372217.1:p.Met549_Trp554delinsArg" }, "referenceSequence": "http://reg.genome.network/refseq/RS723624" }, { "coordinates": [ { "allele": "", "end": 1730, "referenceAllele": "TGTATGAAGTACAGT", "start": 1715 } ], "gene": "http://reg.genome.network/gene/GN006342", "geneNCBI_id": 3815, "geneSymbol": "KIT", "hgvs": [ "NM_001385290.1:c.1658_1672del" ], "proteinEffect": { "hgvs": "NP_001372219.1:p.Met553_Trp558delinsArg", "hgvsWellDefined": "NP_001372219.1:p.Met553_Trp558delinsArg" }, "referenceSequence": "http://reg.genome.network/refseq/RS723626" }, { "coordinates": [ { "allele": "", "end": 1718, "referenceAllele": "TGTATGAAGTACAGT", "start": 1703 } ], "gene": "http://reg.genome.network/gene/GN006342", "geneNCBI_id": 3815, "geneSymbol": "KIT", "hgvs": [ "NM_001385292.1:c.1646_1660del" ], "proteinEffect": { "hgvs": "NP_001372221.1:p.Met549_Trp554delinsArg", "hgvsWellDefined": "NP_001372221.1:p.Met549_Trp554delinsArg" }, "referenceSequence": "http://reg.genome.network/refseq/RS723628" } ], "type": "nucleotide" }