Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.41583250_41583267del , CM000679.2:g.41583250_41583267del | GRCh38 |
| NC_000017.10:g.39739502_39739519del , CM000679.1:g.39739502_39739519del | GRCh37 |
| NC_000017.9:g.36993028_36993045del | NCBI36 |
| NG_008624.1:g.8629_8646del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000167586.7:c.1242_1259del MANE Select | ENSP00000167586.6:p.Tyr415_Glu420del | |
| ENST00000167586.6:c.1242_1259del | ENSP00000167586.6:p.Tyr415_Glu420del | |
| ENST00000441550.2:n.189_206del | ||
| ENST00000476662.1:n.692_709del | ||
| NM_000526.4:c.1242_1259del | NP_000517.2:p.Tyr415_Glu420del | |
| NM_000526.5:c.1242_1259del MANE Select | NP_000517.3:p.Tyr415_Glu420del |