Linked Data
gnomAD v4:
21-44288280-CATAGAGT-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000021.9:g.44288283_44288289del , CM000683.2:g.44288283_44288289del | GRCh38 |
| NC_000021.8:g.45708166_45708172del , CM000683.1:g.45708166_45708172del | GRCh37 |
| NC_000021.7:g.44532594_44532600del | NCBI36 |
| NG_009556.1:g.7404_7410del , LRG_18:g.7404_7410del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000291582.6:c.539-62_539-56del MANE Select | ENSP00000291582.5:n.539-62_539-56del | |
| ENST00000291582.5:c.539-62_539-56del | ENSP00000291582.5:n.539-62_539-56del | |
| ENST00000527919.5:n.1083-62_1083-56del | ||
| ENST00000530812.5:n.1091-62_1091-56del | ||
| NM_000383.3:c.539-62_539-56del | NP_000374.1:n.539-62_539-56del | |
| XM_011529551.1:c.539-62_539-56del | XP_011527853.1:n.539-62_539-56del | |
| NM_000383.4:c.539-62_539-56del MANE Select | NP_000374.1:n.539-62_539-56del |