Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.48445502_48445514del , CM000677.2:g.48445502_48445514del | GRCh38 |
| NC_000015.9:g.48737699_48737711del , CM000677.1:g.48737699_48737711del | GRCh37 |
| NC_000015.8:g.46524991_46525003del | NCBI36 |
| NG_008805.2:g.205277_205289del , LRG_778:g.205277_205289del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000559133.6:c.5789-8_5793del | ||
| ENST00000674301.2:c.5789-8_5793del | ||
| ENST00000684448.1:n.4463-8_4467del | ||
| ENST00000316623.10:c.5789-8_5793del | ||
| ENST00000674301.1:c.788-8_792del | ||
| ENST00000316623.9:c.5789-8_5793del | ||
| ENST00000537463.6:c.*1552-8_*1556del | ||
| ENST00000559133.5:c.1096-8_1100del | ||
| NM_000138.4:c.5789-8_5793del , LRG_778t1:c.5789-8_5793del | ||
| NM_000138.5:c.5789-8_5793del |