Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.58447679_58447686del , CM000682.2:g.58447679_58447686del | GRCh38 |
| NC_000020.10:g.57022735_57022742del , CM000682.1:g.57022735_57022742del | GRCh37 |
| NC_000020.9:g.56456141_56456148del | NCBI36 |
| NG_008073.2:g.63491_63498del , LRG_656:g.63491_63498del |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_004738.5:c.*3444_*3451del MANE Select | NP_004729.1:n.*3444_*3451del |
| ENST00000475243.6:c.*3444_*3451del MANE Select | ENSP00000417175.1:n.*3444_*3451del |
| NM_001195677.1:c.*3514_*3521del | NP_001182606.1:n.*3514_*3521del |
| NM_001195677.2:c.*3514_*3521del | NP_001182606.1:n.*3514_*3521del |
| NM_004738.4:c.*3444_*3451del , LRG_656t1:c.*3444_*3451del | NP_004729.1:n.*3444_*3451del |
| NR_036633.1:n.4332_4339del | |
| NR_036633.2:n.4222_4229del | |
| ENST00000475243.5:c.*3444_*3451del | ENSP00000417175.1:n.*3444_*3451del |