{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA2255602881", "communityStandardTitle": [ "NM_001042492.3(NF1):c.6818A= (p.Lys2273=)" ], "externalRecords": { "dbSNP": [ { "@id": "http://www.ncbi.nlm.nih.gov/snp/1060500344", "rs": 1060500344 } ] }, "genomicAlleles": [ { "chromosome": "17", "coordinates": [ { "allele": "A", "end": 31338138, "referenceAllele": "A", "start": 31338137 } ], "hgvs": [ "NC_000017.11:g.31338138A=", "CM000679.2:g.31338138A=" ], "referenceGenome": "GRCh38", "referenceSequence": "http://reg.genome.network/refseq/RS000065" }, { "chromosome": "17", "coordinates": [ { "allele": "A", "end": 29665156, "referenceAllele": "A", "start": 29665155 } ], "hgvs": [ "NC_000017.10:g.29665156A=", "CM000679.1:g.29665156A=" ], "referenceGenome": "GRCh37", "referenceSequence": "http://reg.genome.network/refseq/RS000041" }, { "chromosome": "17", "coordinates": [ { "allele": "A", "end": 26689282, "referenceAllele": "A", "start": 26689281 } ], "hgvs": [ "NC_000017.9:g.26689282A=" ], "referenceGenome": "NCBI36", "referenceSequence": "http://reg.genome.network/refseq/RS000017" }, { "coordinates": [ { "allele": "A", "end": 248162, "referenceAllele": "A", "start": 248161 } ], "hgvs": [ "NG_009018.1:g.248162A=", "LRG_214:g.248162A=" ], "referenceSequence": "http://reg.genome.network/refseq/RS001383" } ], "transcriptAlleles": [ { "coordinates": [ { "allele": "A", "end": 7183, "referenceAllele": "A", "start": 7182 } ], "gene": "http://reg.genome.network/gene/GN007765", "geneNCBI_id": 4763, "geneSymbol": "NF1", "hgvs": [ "ENST00000696138.1:c.6800A=" ], "proteinEffect": { "hgvs": "ENSP00000512431.1:p.Lys2267=" }, "referenceSequence": "http://reg.genome.network/refseq/RS907613" }, { "coordinates": [ { "allele": "A", "end": 2091, "referenceAllele": "A", "start": 2090 } ], "gene": "http://reg.genome.network/gene/GN007765", "geneNCBI_id": 4763, "geneSymbol": "NF1", "hgvs": [ "ENST00000684826.1:c.1382A=" ], "proteinEffect": { "hgvs": "ENSP00000509994.1:p.Lys461=" }, "referenceSequence": "http://reg.genome.network/refseq/RS829750" }, { "coordinates": [ { "allele": "A", "end": 2076, "referenceAllele": "A", "start": 2075 } ], "gene": "http://reg.genome.network/gene/GN007765", "geneNCBI_id": 4763, "geneSymbol": "NF1", "hgvs": [ "ENST00000684998.1:n.2076A=" ], "referenceSequence": "http://reg.genome.network/refseq/RS829833" }, { "coordinates": [ { "allele": "A", "end": 1751, "referenceAllele": "A", "start": 1750 } ], "gene": "http://reg.genome.network/gene/GN007765", "geneNCBI_id": 4763, "geneSymbol": "NF1", "hgvs": [ "ENST00000687027.1:c.974A=" ], "proteinEffect": { "hgvs": "ENSP00000508715.1:p.Lys325=" }, "referenceSequence": "http://reg.genome.network/refseq/RS830869" }, { "coordinates": [ { "allele": "A", "end": 3463, "referenceAllele": "A", "start": 3462 } ], "gene": "http://reg.genome.network/gene/GN007765", "geneNCBI_id": 4763, "geneSymbol": "NF1", "hgvs": [ "ENST00000687863.1:n.3463A=" ], "referenceSequence": "http://reg.genome.network/refseq/RS831300" }, { "coordinates": [ { "allele": "A", "end": 7181, "referenceAllele": "A", "start": 7180 } ], "gene": "http://reg.genome.network/gene/GN007765", "geneNCBI_id": 4763, "geneSymbol": "NF1", "hgvs": [ "ENST00000691014.1:c.6848A=" ], "proteinEffect": { "hgvs": "ENSP00000510595.1:p.Lys2283=" }, "referenceSequence": "http://reg.genome.network/refseq/RS832991" }, { "coordinates": [ { "allele": "A", "end": 2267, "referenceAllele": "A", "start": 2266 } ], "gene": "http://reg.genome.network/gene/GN007765", "geneNCBI_id": 4763, "geneSymbol": "NF1", "hgvs": [ "ENST00000693617.1:c.1382A=" ], "proteinEffect": { "hgvs": "ENSP00000510031.1:p.Lys461=" }, "referenceSequence": "http://reg.genome.network/refseq/RS834335" }, { "coordinates": [ { "allele": "A", "end": 7151, "referenceAllele": "A", "start": 7150 } ], "gene": "http://reg.genome.network/gene/GN007765", "geneNCBI_id": 4763, "geneSymbol": "NF1", "hgvs": [ "ENST00000358273.9:c.6818A=" ], "proteinEffect": { "hgvs": "ENSP00000351015.4:p.Lys2273=" }, "referenceSequence": "http://reg.genome.network/refseq/RS749046", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000358273.9:c.6818A=" }, "RefSeq": { "hgvs": "NM_001042492.3:c.6818A=" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000351015.4:p.Lys2273=" }, "RefSeq": { "hgvs": "NP_001035957.1:p.Lys2273=" } } } }, { "coordinates": [ { "allele": "A", "end": 7138, "referenceAllele": "A", "start": 7137 } ], "gene": "http://reg.genome.network/gene/GN007765", "geneNCBI_id": 4763, "geneSymbol": "NF1", "hgvs": [ "ENST00000356175.7:c.6755A=" ], "proteinEffect": { "hgvs": "ENSP00000348498.3:p.Lys2252=" }, "referenceSequence": "http://reg.genome.network/refseq/RS263674" }, { "coordinates": [ { "allele": "A", "end": 7201, "referenceAllele": "A", "start": 7200 } ], "gene": "http://reg.genome.network/gene/GN007765", "geneNCBI_id": 4763, "geneSymbol": "NF1", "hgvs": [ "ENST00000358273.8:c.6818A=" ], "proteinEffect": { "hgvs": "ENSP00000351015.4:p.Lys2273=" }, "referenceSequence": "http://reg.genome.network/refseq/RS264392" }, { "coordinates": [ { "allele": "A", "end": 5753, "referenceAllele": "A", "start": 5752 } ], "gene": "http://reg.genome.network/gene/GN007765", "geneNCBI_id": 4763, "geneSymbol": "NF1", "hgvs": [ "ENST00000456735.6:c.5753A=" ], "proteinEffect": { "hgvs": "ENSP00000389907.2:p.Lys1918=" }, "referenceSequence": "http://reg.genome.network/refseq/RS303624" }, { "coordinates": [ { "allele": "A", "end": 201, "referenceAllele": "A", "start": 200 } ], "gene": "http://reg.genome.network/gene/GN007765", "geneNCBI_id": 4763, "geneSymbol": "NF1", "hgvs": [ "ENST00000471572.6:c.201A=" ], "referenceSequence": "http://reg.genome.network/refseq/RS313743" }, { "coordinates": [ { "allele": "A", "end": 6954, "referenceAllele": "A", "start": 6953 } ], "gene": "http://reg.genome.network/gene/GN007765", "geneNCBI_id": 4763, "geneSymbol": "NF1", "hgvs": [ "ENST00000579081.5:c.6954A=" ], "proteinEffect": { "hgvs": "ENSP00000462408.1:n.6954A=" }, "referenceSequence": "http://reg.genome.network/refseq/RS385673" }, { "coordinates": [ { "allele": "A", "end": 64, "endIntronDirection": "+", "endIntronOffset": 258, "referenceAllele": "A", "start": 64, "startIntronDirection": "+", "startIntronOffset": 257 } ], "gene": "http://reg.genome.network/gene/GN007765", "geneNCBI_id": 4763, "geneSymbol": "NF1", "hgvs": [ "ENST00000581790.5:c.64+258A=" ], "referenceSequence": "http://reg.genome.network/refseq/RS386959" }, { "coordinates": [ { "allele": "A", "end": 232, "referenceAllele": "A", "start": 231 } ], "gene": "http://reg.genome.network/gene/GN007765", "geneNCBI_id": 4763, "geneSymbol": "NF1", "hgvs": [ "ENST00000584328.1:n.232A=" ], "referenceSequence": "http://reg.genome.network/refseq/RS388162" }, { "@id": "http://reg.genome.network/allele/PA2825133043", "coordinates": [ { "allele": "A", "end": 7138, "referenceAllele": "A", "start": 7137 } ], "gene": "http://reg.genome.network/gene/GN007765", "geneNCBI_id": 4763, "geneSymbol": "NF1", "hgvs": [ "NM_000267.3:c.6755A=", "LRG_214t1:c.6755A=" ], "proteinEffect": { "hgvs": "NP_000258.1:p.Lys2252=" }, "referenceSequence": "http://reg.genome.network/refseq/RS006329" }, { "@id": "http://reg.genome.network/allele/PA2825407208", "coordinates": [ { "allele": "A", "end": 7201, "referenceAllele": "A", "start": 7200 } ], "gene": "http://reg.genome.network/gene/GN007765", "geneNCBI_id": 4763, "geneSymbol": "NF1", "hgvs": [ "NM_001042492.2:c.6818A=", "LRG_214t2:c.6818A=" ], "proteinEffect": { "hgvs": "NP_001035957.1:p.Lys2273=" }, "referenceSequence": "http://reg.genome.network/refseq/RS009721" }, { "coordinates": [ { "allele": "A", "end": 7151, "referenceAllele": "A", "start": 7150 } ], "gene": "http://reg.genome.network/gene/GN007765", "geneNCBI_id": 4763, "geneSymbol": "NF1", "hgvs": [ "XM_005257983.1:c.6818A=" ], "proteinEffect": { "hgvs": "XP_005258040.1:p.Lys2273=" }, "referenceSequence": "http://reg.genome.network/refseq/RS061916" }, { "coordinates": [ { "allele": "A", "end": 7088, "referenceAllele": "A", "start": 7087 } ], "gene": "http://reg.genome.network/gene/GN007765", "geneNCBI_id": 4763, "geneSymbol": "NF1", "hgvs": [ "XM_005257984.1:c.6755A=" ], "proteinEffect": { "hgvs": "XP_005258041.1:p.Lys2252=" }, "referenceSequence": "http://reg.genome.network/refseq/RS061917" }, { "coordinates": [ { "allele": "A", "end": 7181, "referenceAllele": "A", "start": 7180 } ], "gene": "http://reg.genome.network/gene/GN007765", "geneNCBI_id": 4763, "geneSymbol": "NF1", "hgvs": [ "XM_006721922.1:c.6848A=" ], "proteinEffect": { "hgvs": "XP_006721985.1:p.Lys2283=" }, "referenceSequence": "http://reg.genome.network/refseq/RS074318" }, { "coordinates": [ { "allele": "A", "end": 7448, "referenceAllele": "A", "start": 7447 } ], "gene": "http://reg.genome.network/gene/GN007765", "geneNCBI_id": 4763, "geneSymbol": "NF1", "hgvs": [ "XM_006721923.2:c.6809A=" ], "proteinEffect": { "hgvs": "XP_006721986.1:p.Lys2270=" }, "referenceSequence": "http://reg.genome.network/refseq/RS074319" }, { "coordinates": [ { "allele": "A", "end": 7181, "referenceAllele": "A", "start": 7180 } ], "gene": "http://reg.genome.network/gene/GN007765", "geneNCBI_id": 4763, "geneSymbol": "NF1", "hgvs": [ "XM_006721924.1:c.6848A=" ], "proteinEffect": { "hgvs": "XP_006721987.1:p.Lys2283=" }, "referenceSequence": "http://reg.genome.network/refseq/RS074320" }, { "coordinates": [ { "allele": "A", "end": 7118, "referenceAllele": "A", "start": 7117 } ], "gene": "http://reg.genome.network/gene/GN007765", "geneNCBI_id": 4763, "geneSymbol": "NF1", "hgvs": [ "XM_006721925.1:c.6785A=" ], "proteinEffect": { "hgvs": "XP_006721988.1:p.Lys2262=" }, "referenceSequence": "http://reg.genome.network/refseq/RS074321" }, { "coordinates": [ { "allele": "A", "end": 7181, "referenceAllele": "A", "start": 7180 } ], "gene": "http://reg.genome.network/gene/GN007765", "geneNCBI_id": 4763, "geneSymbol": "NF1", "hgvs": [ "XM_006721926.2:c.6848A=" ], "proteinEffect": { "hgvs": "XP_006721989.1:p.Lys2283=" }, "referenceSequence": "http://reg.genome.network/refseq/RS074322" }, { "coordinates": [ { "allele": "A", "end": 7181, "referenceAllele": "A", "start": 7180 } ], "gene": "http://reg.genome.network/gene/GN007765", "geneNCBI_id": 4763, "geneSymbol": "NF1", "hgvs": [ "XM_006721927.1:c.6848A=" ], "proteinEffect": { "hgvs": "XP_006721990.1:p.Lys2283=" }, "referenceSequence": "http://reg.genome.network/refseq/RS074323" }, { "coordinates": [ { "allele": "A", "end": 7178, "referenceAllele": "A", "start": 7177 } ], "gene": "http://reg.genome.network/gene/GN007765", "geneNCBI_id": 4763, "geneSymbol": "NF1", "hgvs": [ "XM_011524852.1:c.6845A=" ], "proteinEffect": { "hgvs": "XP_011523154.1:p.Lys2282=" }, "referenceSequence": "http://reg.genome.network/refseq/RS091972" }, { "coordinates": [ { "allele": "A", "end": 8639, "referenceAllele": "A", "start": 8638 } ], "gene": "http://reg.genome.network/gene/GN007765", "geneNCBI_id": 4763, "geneSymbol": "NF1", "hgvs": [ "XM_011524853.1:c.6809A=" ], "proteinEffect": { "hgvs": "XP_011523155.1:p.Lys2270=" }, "referenceSequence": "http://reg.genome.network/refseq/RS091973" }, { "coordinates": [ { "allele": "A", "end": 7674, "referenceAllele": "A", "start": 7673 } ], "gene": "http://reg.genome.network/gene/GN007765", "geneNCBI_id": 4763, "geneSymbol": "NF1", "hgvs": [ "XM_011524854.1:c.6809A=" ], "proteinEffect": { "hgvs": "XP_011523156.1:p.Lys2270=" }, "referenceSequence": "http://reg.genome.network/refseq/RS091974" }, { "coordinates": [ { "allele": "A", "end": 7706, "referenceAllele": "A", "start": 7705 } ], "gene": "http://reg.genome.network/gene/GN007765", "geneNCBI_id": 4763, "geneSymbol": "NF1", "hgvs": [ "XM_011524855.1:c.6809A=" ], "proteinEffect": { "hgvs": "XP_011523157.1:p.Lys2270=" }, "referenceSequence": "http://reg.genome.network/refseq/RS091975" }, { "coordinates": [ { "allele": "A", "end": 8384, "referenceAllele": "A", "start": 8383 } ], "gene": "http://reg.genome.network/gene/GN007765", "geneNCBI_id": 4763, "geneSymbol": "NF1", "hgvs": [ "XM_011524856.1:c.6809A=" ], "proteinEffect": { "hgvs": "XP_011523158.1:p.Lys2270=" }, "referenceSequence": "http://reg.genome.network/refseq/RS091976" }, { "coordinates": [ { "allele": "A", "end": 7181, "referenceAllele": "A", "start": 7180 } ], "gene": "http://reg.genome.network/gene/GN007765", "geneNCBI_id": 4763, "geneSymbol": "NF1", "hgvs": [ "XM_011524857.1:c.6848A=" ], "proteinEffect": { "hgvs": "XP_011523159.1:p.Lys2283=" }, "referenceSequence": "http://reg.genome.network/refseq/RS091977" }, { "@id": "http://reg.genome.network/allele/PA2825407208", "coordinates": [ { "allele": "A", "end": 7151, "referenceAllele": "A", "start": 7150 } ], "gene": "http://reg.genome.network/gene/GN007765", "geneNCBI_id": 4763, "geneSymbol": "NF1", "hgvs": [ "NM_001042492.3:c.6818A=" ], "proteinEffect": { "hgvs": "NP_001035957.1:p.Lys2273=" }, "referenceSequence": "http://reg.genome.network/refseq/RS676037", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000358273.9:c.6818A=" }, "RefSeq": { "hgvs": "NM_001042492.3:c.6818A=" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000351015.4:p.Lys2273=" }, "RefSeq": { "hgvs": "NP_001035957.1:p.Lys2273=" } } } } ], "type": "nucleotide" }