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Canonical Allele Identifier:
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Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.43078305_43083300dup , CM000679.2:g.43078305_43083300dup | GRCh38 |
| NC_000017.10:g.41230322_41235317dup , CM000679.1:g.41230322_41235317dup | GRCh37 |
| NC_000017.9:g.38483848_38488843dup | NCBI36 |
| NG_005905.2:g.134685_139680dup , LRG_292:g.134685_139680dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000461574.2:c.4186-724_4358-1693dup | ||
| ENST00000470026.6:c.4186-724_4358-1690dup | ||
| ENST00000473961.6:c.4060-724_4232-1690dup | ||
| ENST00000476777.6:c.4183-727_4352-1690dup | ||
| ENST00000477152.6:c.4108-724_4280-1690dup | ||
| ENST00000478531.6:c.874-724_1046-1690dup | ||
| ENST00000489037.2:c.4108-724_4280-1690dup | ||
| ENST00000493919.6:c.736-724_908-1690dup | ||
| ENST00000494123.6:c.4186-724_4358-1690dup | ||
| ENST00000497488.2:c.3298-724_3470-1690dup | ||
| ENST00000618469.2:c.4186-724_4358-1690dup | ||
| ENST00000634433.2:c.4063-724_4235-1690dup | ||
| ENST00000644379.2:c.4186-724_4423+1030dup | ||
| ENST00000644555.2:c.736-724_908-1690dup | ||
| ENST00000652672.2:c.4045-724_4217-1690dup | ||
| ENST00000484087.6:c.754-727_923-1693dup | ||
| ENST00000700182.1:c.796-724_968-1693dup | ||
| ENST00000357654.9:c.4186-724_4358-1690dup | ||
| ENST00000471181.7:c.4186-724_4423+1030dup | ||
| ENST00000644379.1:c.507-724_744+1030dup | ||
| ENST00000352993.7:c.760-724_932-1690dup | ||
| ENST00000357654.7:c.4186-724_4358-1690dup | ||
| ENST00000461221.5:c.*3969-724_*4141-1690dup | ||
| ENST00000461574.1:c.480-724_652-1693dup | ||
| ENST00000468300.5:c.877-724_1049-1693dup | ||
| ENST00000471181.6:c.4186-724_4423+1030dup | ||
| ENST00000478531.5:c.874-724_1046-1690dup | ||
| ENST00000484087.5:c.499-724_671-1690dup | ||
| ENST00000487825.5:c.502-724_674-1690dup | ||
| ENST00000491747.6:c.877-724_1049-1693dup | ||
| ENST00000493795.5:c.4045-724_4217-1690dup | ||
| ENST00000493919.5:c.736-724_908-1690dup | ||
| ENST00000586385.5:c.5-19348_5-14353dup | ENSP00000465818.1:n.5-19348_5-14353dup | |
| ENST00000591534.5:c.-43-8778_-43-3783dup | ENSP00000467329.1:n.-43-8778_-43-3783dup | |
| ENST00000591849.5:c.-98-33109_-98-28114dup | ENSP00000465347.1:n.-98-33109_-98-28114dup | |
| NM_007294.3:c.4186-724_4358-1690dup , LRG_292t1:c.4186-724_4358-1690dup | ||
| NM_007297.3:c.4045-724_4217-1690dup | ||
| NM_007298.3:c.877-724_1049-1693dup | ||
| NM_007299.3:c.877-724_1049-1693dup | ||
| NM_007300.3:c.4186-724_4423+1030dup | ||
| NR_027676.1:n.4322-724_4494-1690dup | ||
| NM_007294.4:c.4186-724_4358-1690dup | ||
| NM_007297.4:c.4045-724_4217-1690dup | ||
| NM_007299.4:c.877-724_1049-1693dup | ||
| NM_007300.4:c.4186-724_4423+1030dup | ||
| NR_027676.2:n.4363-724_4535-1690dup |