Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000021.9:g.45984549_45984551del , CM000683.2:g.45984549_45984551del | GRCh38 |
| NC_000021.8:g.47404463_47404465del , CM000683.1:g.47404463_47404465del | GRCh37 |
| NC_000021.7:g.46228891_46228893del | NCBI36 |
| NG_008674.1:g.7801_7803del , LRG_475:g.7801_7803del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000361866.8:c.428+80_428+82del MANE Select | ENSP00000355180.3:n.428+80_428+82del | |
| ENST00000361866.7:c.428+80_428+82del | ENSP00000355180.3:n.428+80_428+82del | |
| ENST00000612273.1:c.428+80_428+82del | ENSP00000483630.1:n.428+80_428+82del | |
| NM_001848.2:c.428+80_428+82del , LRG_475t1:c.428+80_428+82del | NP_001839.2:n.428+80_428+82del | |
| NM_001848.3:c.428+80_428+82del MANE Select | NP_001839.2:n.428+80_428+82del |