Linked Data
gnomAD v4:
20-57562867-TC-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.57562869del , CM000682.2:g.57562869del | GRCh38 |
| NC_000020.10:g.56137925del , CM000682.1:g.56137925del | GRCh37 |
| NC_000020.9:g.55571331del | NCBI36 |
| NG_008205.1:g.6789del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000319441.6:c.580del MANE Select | ENSP00000319814.4:p.His194IlefsTer23 | |
| ENST00000319441.5:c.580del | ENSP00000319814.4:p.His194IlefsTer23 | |
| ENST00000467047.1:n.1790del | ||
| ENST00000470051.1:n.36del | ||
| ENST00000498194.1:n.522del | ||
| NM_002591.3:c.580del | NP_002582.3:p.His194IlefsTer23 | |
| XM_011528839.1:c.184del | XP_011527141.1:p.His62IlefsTer23 | |
| XM_024451888.1:c.184del | XP_024307656.1:p.His62IlefsTer23 | |
| NM_002591.4:c.580del MANE Select | NP_002582.3:p.His194IlefsTer23 |