Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.24290809_24290828del , CM000668.2:g.24290809_24290828del | GRCh38 |
| NC_000006.11:g.24291037_24291056del , CM000668.1:g.24291037_24291056del | GRCh37 |
| NC_000006.10:g.24399016_24399035del | NCBI36 |
| NG_012829.1:g.72225_72244del | |
| NG_012829.2:g.97465_97484del |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_016356.5:c.704+104_704+123del MANE Select | NP_057440.2:n.704+104_704+123del |
| ENST00000378454.8:c.704+104_704+123del MANE Select | ENSP00000367715.3:n.704+104_704+123del |
| NM_001195610.1:c.704+104_704+123del | NP_001182539.1:n.704+104_704+123del |
| NM_001195610.2:c.704+104_704+123del | NP_001182539.1:n.704+104_704+123del |
| NM_016356.4:c.704+104_704+123del | NP_057440.2:n.704+104_704+123del |
| ENST00000378454.7:c.704+104_704+123del | ENSP00000367715.3:n.704+104_704+123del |