Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.4734449del , CM000679.2:g.4734449del | GRCh38 |
| NC_000017.10:g.4637744del , CM000679.1:g.4637744del | GRCh37 |
| NC_000017.9:g.4584493del | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000293778.12:c.*55del MANE Select | ENSP00000293778.7:n.*55del | |
| ENST00000574412.6:c.*158del | ENSP00000459592.2:n.*158del | |
| ENST00000293778.10:c.*55del | ENSP00000293778.6:n.*55del | |
| ENST00000574412.5:c.*158del | ENSP00000459592.1:n.*158del | |
| ENST00000576153.5:n.611del | ||
| NM_022059.3:c.*55del | NP_071342.2:n.*55del | |
| NM_022059.4:c.*55del | NP_071342.2:n.*55del | |
| NM_001386809.1:c.*55del MANE Select | NP_001373738.1:n.*55del |