Linked Data
gnomAD v4:
20-57564856-TG-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.57564858del , CM000682.2:g.57564858del | GRCh38 |
| NC_000020.10:g.56139914del , CM000682.1:g.56139914del | GRCh37 |
| NC_000020.9:g.55573320del | NCBI36 |
| NG_008205.1:g.8778del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000319441.6:c.1319-182del MANE Select | ENSP00000319814.4:n.1319-182del | |
| ENST00000319441.5:c.1319-182del | ENSP00000319814.4:n.1319-182del | |
| ENST00000467047.1:n.3779del | ||
| ENST00000485958.1:n.443-182del | ||
| NM_002591.3:c.1319-182del | NP_002582.3:n.1319-182del | |
| XM_011528839.1:c.923-182del | XP_011527141.1:n.923-182del | |
| XM_024451888.1:c.923-182del | XP_024307656.1:n.923-182del | |
| NM_002591.4:c.1319-182del MANE Select | NP_002582.3:n.1319-182del |