Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000021.9:g.44287534_44287539del , CM000683.2:g.44287534_44287539del | GRCh38 |
| NC_000021.8:g.45707417_45707422del , CM000683.1:g.45707417_45707422del | GRCh37 |
| NC_000021.7:g.44531845_44531850del | NCBI36 |
| NG_009556.1:g.6655_6660del , LRG_18:g.6655_6660del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000291582.6:c.481_486del MANE Select | ENSP00000291582.5:p.Lys161_Pro162del | |
| ENST00000291582.5:c.481_486del | ENSP00000291582.5:p.Lys161_Pro162del | |
| ENST00000527919.5:n.1025_1030del | ||
| ENST00000530812.5:n.1033_1038del | ||
| NM_000383.3:c.481_486del | NP_000374.1:p.Lys161_Pro162del | |
| XM_011529551.1:c.481_486del | XP_011527853.1:p.Lys161_Pro162del | |
| NM_000383.4:c.481_486del MANE Select | NP_000374.1:p.Lys161_Pro162del |