Linked Data
gnomAD v4:
15-42958163-GAAGAA-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.42958164_42958168del , CM000677.2:g.42958164_42958168del | GRCh38 |
| NC_000015.9:g.43250362_43250366del , CM000677.1:g.43250362_43250366del | GRCh37 |
| NC_000015.8:g.41037654_41037658del | NCBI36 |
| NG_012182.1:g.152921_152925del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000290650.9:c.4758-78_4758-74del MANE Select | ENSP00000290650.4:n.4758-78_4758-74del | |
| ENST00000290650.8:c.4758-78_4758-74del | ENSP00000290650.4:n.4758-78_4758-74del | |
| NM_174916.2:c.4758-78_4758-74del | NP_777576.1:n.4758-78_4758-74del | |
| NM_174916.3:c.4758-78_4758-74del MANE Select | NP_777576.1:n.4758-78_4758-74del |