Linked Data
gnomAD v4:
21-45987786-CGGCGGGG-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000021.9:g.45987788_45987794del , CM000683.2:g.45987788_45987794del | GRCh38 |
| NC_000021.8:g.47407702_47407708del , CM000683.1:g.47407702_47407708del | GRCh37 |
| NC_000021.7:g.46232130_46232136del | NCBI36 |
| NG_008674.1:g.11040_11046del , LRG_475:g.11040_11046del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000361866.8:c.804+134_804+140del MANE Select | ENSP00000355180.3:n.804+134_804+140del | |
| ENST00000361866.7:c.804+134_804+140del | ENSP00000355180.3:n.804+134_804+140del | |
| ENST00000612273.1:c.804+134_804+140del | ENSP00000483630.1:n.804+134_804+140del | |
| NM_001848.2:c.804+134_804+140del , LRG_475t1:c.804+134_804+140del | NP_001839.2:n.804+134_804+140del | |
| NM_001848.3:c.804+134_804+140del MANE Select | NP_001839.2:n.804+134_804+140del |