Linked Data
gnomAD v4:
8-47960444-CG-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.47960449del , CM000670.2:g.47960449del | GRCh38 |
| NC_000008.10:g.48873009del , CM000670.1:g.48873009del | GRCh37 |
| NC_000008.9:g.49035562del | NCBI36 |
| NG_023435.1:g.4739del , LRG_162:g.4739del | |
| NG_032967.1:g.5247del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000518221.5:c.-15+129del | ENSP00000430329.1:n.-15+129del | |
| NM_005914.3:c.-696del | NP_005905.2:n.-696del | |
| NM_182746.2:c.-580del | NP_877423.1:n.-580del | |
| XM_005251234.1:c.-942del | XP_005251291.1:n.-942del |