Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.7533986del , CM000681.2:g.7533986del | GRCh38 |
| NC_000019.9:g.7598872del , CM000681.1:g.7598872del | GRCh37 |
| NC_000019.8:g.7504872del | NCBI36 |
| NG_013374.1:g.4835del | |
| NG_015806.1:g.16377del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000264079.11:c.*191del MANE Select | ENSP00000264079.5:n.*191del | |
| ENST00000264079.10:c.*191del | ENSP00000264079.5:n.*191del | |
| ENST00000394321.9:n.2249del | ||
| ENST00000599334.1:c.662del | ||
| ENST00000601870.1:c.169+118del | ||
| ENST00000602227.1:n.488del | ||
| NM_020533.2:c.*191del | NP_065394.1:n.*191del | |
| NM_020533.3:c.*191del MANE Select | NP_065394.1:n.*191del |