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"referenceAllele": "T", "start": 227042195 } ], "hgvs": [ "NC_000002.12:g.227042196T>A", "CM000664.2:g.227042196T>A" ], "referenceGenome": "GRCh38", "referenceSequence": "http://reg.genome.network/refseq/RS000050" }, { "chromosome": "2", "coordinates": [ { "allele": "A", "end": 227906912, "referenceAllele": "T", "start": 227906911 } ], "hgvs": [ "NC_000002.11:g.227906912T>A", "CM000664.1:g.227906912T>A" ], "referenceGenome": "GRCh37", "referenceSequence": "http://reg.genome.network/refseq/RS000026" }, { "chromosome": "2", "coordinates": [ { "allele": "A", "end": 227615156, "referenceAllele": "T", "start": 227615155 } ], "hgvs": [ "NC_000002.10:g.227615156T>A" ], "referenceGenome": "NCBI36", "referenceSequence": "http://reg.genome.network/refseq/RS000002" }, { "coordinates": [ { "allele": "T", "end": 127364, "referenceAllele": "A", "start": 127363 } ], "hgvs": [ "NG_011592.1:g.127364A>T", "LRG_231:g.127364A>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS001840" } ], "transcriptAlleles": [ { "coordinates": [ { "allele": "T", "end": 3757, "referenceAllele": "A", "start": 3756 } ], "gene": "http://reg.genome.network/gene/GN002206", "geneNCBI_id": 1286, "geneSymbol": "COL4A4", "hgvs": [ "ENST00000396625.5:c.3457A>T" ], "proteinEffect": { "hgvs": "ENSP00000379866.3:p.Arg1153Ter", "hgvsWellDefined": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS006156" }, { "coordinates": [ { "allele": "T", "end": 3642, "referenceAllele": "A", "start": 3641 } ], "gene": "http://reg.genome.network/gene/GN002206", "geneNCBI_id": 1286, "geneSymbol": "COL4A4", "hgvs": [ "XM_005246281.2:c.3457A>T" ], "proteinEffect": { "hgvs": "XP_005246338.1:p.Arg1153Ter", "hgvsWellDefined": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS057551" }, { "coordinates": [ { "allele": "T", "end": 3212, "referenceAllele": "A", "start": 3211 } ], "gene": "http://reg.genome.network/gene/GN002206", "geneNCBI_id": 1286, "geneSymbol": "COL4A4", "hgvs": [ "XM_005246282.2:c.2902A>T" ], "proteinEffect": { "hgvs": "XP_005246339.1:p.Arg968Ter", "hgvsWellDefined": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS057552" }, { "coordinates": [ { "allele": "T", "end": 3767, "referenceAllele": "A", "start": 3766 } ], "gene": "http://reg.genome.network/gene/GN002206", "geneNCBI_id": 1286, "geneSymbol": "COL4A4", "hgvs": [ "XM_006712246.2:c.3457A>T" ], "proteinEffect": { "hgvs": "XP_006712309.1:p.Arg1153Ter", "hgvsWellDefined": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS069541" }, { "coordinates": [ { "allele": "T", "end": 3767, "referenceAllele": "A", "start": 3766 } ], "gene": "http://reg.genome.network/gene/GN002206", "geneNCBI_id": 1286, "geneSymbol": "COL4A4", "hgvs": [ "XM_006712249.2:c.3457A>T" ], "proteinEffect": { "hgvs": "XP_006712312.1:p.Arg1153Ter", "hgvsWellDefined": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS069542" }, { "coordinates": [ { "allele": "T", "end": 3767, "referenceAllele": "A", "start": 3766 } ], "gene": "http://reg.genome.network/gene/GN002206", "geneNCBI_id": 1286, "geneSymbol": "COL4A4", "hgvs": [ "XM_006712251.2:c.3457A>T" ], "proteinEffect": { "hgvs": "XP_006712314.1:p.Arg1153Ter", "hgvsWellDefined": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS538214" }, { "coordinates": [ { "allele": "T", "end": 3702, "referenceAllele": "A", "start": 3701 } ], "gene": "http://reg.genome.network/gene/GN002206", "geneNCBI_id": 1286, "geneSymbol": "COL4A4", "hgvs": [ "XM_011510557.2:c.3376A>T" ], "proteinEffect": { "hgvs": "XP_011508859.1:p.Arg1126Ter", "hgvsWellDefined": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS541766" }, { "coordinates": [ { "allele": "T", "end": 3675, "referenceAllele": "A", "start": 3674 } ], "gene": "http://reg.genome.network/gene/GN002206", "geneNCBI_id": 1286, "geneSymbol": "COL4A4", "hgvs": [ "XM_011510558.2:c.3349A>T" ], "proteinEffect": { "hgvs": "XP_011508860.1:p.Arg1117Ter", "hgvsWellDefined": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS559067" }, { "coordinates": [ { "allele": "T", "end": 3666, "referenceAllele": "A", "start": 3665 } ], "gene": "http://reg.genome.network/gene/GN002206", "geneNCBI_id": 1286, "geneSymbol": "COL4A4", "hgvs": [ "XM_017003297.1:c.3340A>T" ], "proteinEffect": { "hgvs": "XP_016858786.1:p.Arg1114Ter", "hgvsWellDefined": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS559068" }, { "coordinates": [ { "allele": "T", "end": 3783, "referenceAllele": "A", "start": 3782 } ], "gene": "http://reg.genome.network/gene/GN002206", "geneNCBI_id": 1286, "geneSymbol": "COL4A4", "hgvs": [ "XM_017003298.1:c.3457A>T" ], "proteinEffect": { "hgvs": "XP_016858787.1:p.Arg1153Ter", "hgvsWellDefined": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS559069" }, { "coordinates": [ { "allele": "T", "end": 3783, "referenceAllele": "A", "start": 3782 } ], "gene": "http://reg.genome.network/gene/GN002206", "geneNCBI_id": 1286, "geneSymbol": "COL4A4", "hgvs": [ "XM_017003299.1:c.3457A>T" ], "proteinEffect": { "hgvs": "XP_016858788.1:p.Arg1153Ter", "hgvsWellDefined": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS559070" }, { "coordinates": [ { "allele": "T", "end": 3783, "referenceAllele": "A", "start": 3782 } ], "gene": "http://reg.genome.network/gene/GN002206", "geneNCBI_id": 1286, "geneSymbol": "COL4A4", "hgvs": [ "XM_017003300.1:c.3457A>T" ], "proteinEffect": { "hgvs": "XP_016858789.1:p.Arg1153Ter", "hgvsWellDefined": 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"http://reg.genome.network/gene/GN002206", "geneNCBI_id": 1286, "geneSymbol": "COL4A4", "hgvs": [ "XR_001738602.1:n.3783A>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS589091" }, { "coordinates": [ { "allele": "T", "end": 3783, "referenceAllele": "A", "start": 3782 } ], "gene": "http://reg.genome.network/gene/GN002206", "geneNCBI_id": 1286, "geneSymbol": "COL4A4", "hgvs": [ "XR_001738603.1:n.3783A>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS589092" }, { "coordinates": [ { "allele": "T", "end": 3783, "referenceAllele": "A", "start": 3782 } ], "gene": "http://reg.genome.network/gene/GN002206", "geneNCBI_id": 1286, "geneSymbol": "COL4A4", "hgvs": [ "XR_001738604.1:n.3783A>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS589093" }, { "coordinates": [ { "allele": "T", "end": 3783, "referenceAllele": "A", "start": 3782 } ], "gene": "http://reg.genome.network/gene/GN002206", "geneNCBI_id": 1286, "geneSymbol": "COL4A4", "hgvs": [ 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}, "referenceSequence": "http://reg.genome.network/refseq/RS674699", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000396625.5:c.3457A>T" }, "RefSeq": { "hgvs": "NM_000092.5:c.3457A>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000379866.3:p.Arg1153Ter" }, "RefSeq": { "hgvs": "NP_000083.3:p.Arg1153Ter" } } } } ], "type": "nucleotide" }