Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.67942811_67942865del , CM000678.2:g.67942811_67942865del | GRCh38 |
| NC_000016.9:g.67976714_67976768del , CM000678.1:g.67976714_67976768del | GRCh37 |
| NC_000016.8:g.66534215_66534269del | NCBI36 |
| NG_009778.1:g.6248_6302del | |
| NG_033098.1:g.30830_30884del |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000229.1:c.423_428-45del | |
| NM_000229.2:c.423_428-45del | |
| ENST00000264005.10:c.423_428-45del | |
| ENST00000264005.9:c.423_428-45del | |
| ENST00000570369.5:c.151_155+50del | |
| ENST00000570980.1:c.207_212-45del | |
| ENST00000573538.5:c.66_71-45del | |
| ENST00000573846.1:n.37_42-45del | |
| ENST00000575277.1:n.201_206-45del | |
| ENST00000575467.5:c.*118_*123-45del |