Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.3082925del , CM000682.2:g.3082925del | GRCh38 |
| NC_000020.10:g.3063571del , CM000682.1:g.3063571del | GRCh37 |
| NC_000020.9:g.3011571del | NCBI36 |
| NG_008663.1:g.6806del , LRG_715:g.6806del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000380293.3:c.322+58del MANE Select | ENSP00000369647.3:n.322+58del | |
| NM_000490.4:c.322+58del , LRG_715t1:c.322+58del | NP_000481.2:n.322+58del | |
| XM_011529267.1:c.322+58del | XP_011527569.1:n.322+58del | |
| XM_011529267.2:c.322+58del | XP_011527569.1:n.322+58del | |
| NM_000490.5:c.322+58del MANE Select | NP_000481.2:n.322+58del |