Linked Data
gnomAD v4:
20-57562843-GC-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.57562844del , CM000682.2:g.57562844del | GRCh38 |
| NC_000020.10:g.56137900del , CM000682.1:g.56137900del | GRCh37 |
| NC_000020.9:g.55571306del | NCBI36 |
| NG_008205.1:g.6764del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000319441.6:c.555del MANE Select | ENSP00000319814.4:p.Asp186MetfsTer? | |
| ENST00000319441.5:c.555del | ENSP00000319814.4:p.Asp186MetfsTer? | |
| ENST00000467047.1:n.1765del | ||
| ENST00000470051.1:n.11del | ||
| ENST00000498194.1:n.497del | ||
| NM_002591.3:c.555del | NP_002582.3:p.Asp186MetfsTer? | |
| XM_011528839.1:c.159del | XP_011527141.1:p.Asp54MetfsTer? | |
| XM_024451888.1:c.159del | XP_024307656.1:p.Asp54MetfsTer? | |
| NM_002591.4:c.555del MANE Select | NP_002582.3:p.Asp186MetfsTer? |