Linked Data
gnomAD v4:
21-45984493-CCACGCCAGTTCT-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000021.9:g.45984499_45984510del , CM000683.2:g.45984499_45984510del | GRCh38 |
| NC_000021.8:g.47404413_47404424del , CM000683.1:g.47404413_47404424del | GRCh37 |
| NC_000021.7:g.46228841_46228852del | NCBI36 |
| NG_008674.1:g.7751_7762del , LRG_475:g.7751_7762del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000361866.8:c.428+30_428+41del MANE Select | ENSP00000355180.3:n.428+30_428+41del | |
| ENST00000361866.7:c.428+30_428+41del | ENSP00000355180.3:n.428+30_428+41del | |
| ENST00000612273.1:c.428+30_428+41del | ENSP00000483630.1:n.428+30_428+41del | |
| NM_001848.2:c.428+30_428+41del , LRG_475t1:c.428+30_428+41del | NP_001839.2:n.428+30_428+41del | |
| NM_001848.3:c.428+30_428+41del MANE Select | NP_001839.2:n.428+30_428+41del |