Linked Data
gnomAD v4:
20-57562637-TG-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.57562639del , CM000682.2:g.57562639del | GRCh38 |
| NC_000020.10:g.56137695del , CM000682.1:g.56137695del | GRCh37 |
| NC_000020.9:g.55571101del | NCBI36 |
| NG_008205.1:g.6559del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000319441.6:c.407-57del MANE Select | ENSP00000319814.4:n.407-57del | |
| ENST00000319441.5:c.407-57del | ENSP00000319814.4:n.407-57del | |
| ENST00000467047.1:n.1560del | ||
| ENST00000498194.1:n.292del | ||
| NM_002591.3:c.407-57del | NP_002582.3:n.407-57del | |
| XM_011528839.1:c.11-57del | XP_011527141.1:n.11-57del | |
| XM_024451888.1:c.11-57del | XP_024307656.1:n.11-57del | |
| NM_002591.4:c.407-57del MANE Select | NP_002582.3:n.407-57del |