Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.4734137_4734140del , CM000679.2:g.4734137_4734140del | GRCh38 |
| NC_000017.10:g.4637432_4637435del , CM000679.1:g.4637432_4637435del | GRCh37 |
| NC_000017.9:g.4584181_4584184del | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000293778.12:c.*363_*366del MANE Select | ENSP00000293778.7:n.*363_*366del | |
| ENST00000293778.10:c.*363_*366del | ENSP00000293778.6:n.*363_*366del | |
| ENST00000576153.5:n.919_922del | ||
| NM_022059.3:c.*363_*366del | NP_071342.2:n.*363_*366del | |
| NM_022059.4:c.*363_*366del | NP_071342.2:n.*363_*366del | |
| NM_001386809.1:c.*363_*366del MANE Select | NP_001373738.1:n.*363_*366del |