Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.1206815del , CM000681.2:g.1206815del | GRCh38 |
| NC_000019.9:g.1206814del , CM000681.1:g.1206814del | GRCh37 |
| NC_000019.8:g.1157814del | NCBI36 |
| NG_007460.2:g.22409del , LRG_319:g.22409del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000585465.3:c.-99del | ENSP00000490268.2:n.-99del | |
| ENST00000585748.3:c.-82-11602del | ENSP00000477641.2:n.-82-11602del | |
| ENST00000326873.12:c.-99del MANE Select | ENSP00000324856.6:n.-99del | |
| ENST00000652231.1:c.-99del | ENSP00000498804.1:n.-99del | |
| ENST00000326873.11:c.-99del | ENSP00000324856.6:n.-99del | |
| ENST00000585748.2:c.-82-11602del | ENSP00000477641.1:n.-82-11602del | |
| ENST00000586243.5:c.-99del | ENSP00000467240.2:n.-99del | |
| NM_000455.4:c.-99del , LRG_319t1:c.-99del | NP_000446.1:n.-99del | |
| XM_005259617.1:c.-99del | XP_005259674.1:n.-99del | |
| XM_005259618.3:c.-99del | XP_005259675.1:n.-99del | |
| XM_011528209.1:c.-452del | XP_011526511.1:n.-452del | |
| XR_936204.1:n.527del | ||
| XM_005259617.3:c.-99del | XP_005259674.1:n.-99del | |
| XM_011528209.2:c.-452del | XP_011526511.1:n.-452del | |
| XR_001753738.2:n.527del | ||
| XR_001753739.1:n.527del | ||
| XR_001753740.2:n.527del | ||
| NM_000455.5:c.-99del MANE Select | NP_000446.1:n.-99del |