Linked Data
gnomAD v4:
21-45984477-GC-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000021.9:g.45984482del , CM000683.2:g.45984482del | GRCh38 |
| NC_000021.8:g.47404396del , CM000683.1:g.47404396del | GRCh37 |
| NC_000021.7:g.46228824del | NCBI36 |
| NG_008674.1:g.7734del , LRG_475:g.7734del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000361866.8:c.428+13del MANE Select | ENSP00000355180.3:n.428+13del | |
| ENST00000361866.7:c.428+13del | ENSP00000355180.3:n.428+13del | |
| ENST00000612273.1:c.428+13del | ENSP00000483630.1:n.428+13del | |
| NM_001848.2:c.428+13del , LRG_475t1:c.428+13del | NP_001839.2:n.428+13del | |
| NM_001848.3:c.428+13del MANE Select | NP_001839.2:n.428+13del |