Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.4734443_4734445del , CM000679.2:g.4734443_4734445del | GRCh38 |
| NC_000017.10:g.4637738_4637740del , CM000679.1:g.4637738_4637740del | GRCh37 |
| NC_000017.9:g.4584487_4584489del | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000293778.12:c.*60_*62del MANE Select | ENSP00000293778.7:n.*60_*62del | |
| ENST00000574412.6:c.*163_*165del | ENSP00000459592.2:n.*163_*165del | |
| ENST00000293778.10:c.*60_*62del | ENSP00000293778.6:n.*60_*62del | |
| ENST00000574412.5:c.*163_*165del | ENSP00000459592.1:n.*163_*165del | |
| ENST00000576153.5:n.616_618del | ||
| NM_022059.3:c.*60_*62del | NP_071342.2:n.*60_*62del | |
| NM_022059.4:c.*60_*62del | NP_071342.2:n.*60_*62del | |
| NM_001386809.1:c.*60_*62del MANE Select | NP_001373738.1:n.*60_*62del |