Linked Data
gnomAD v4:
16-177337-AC-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.177341del , CM000678.2:g.177341del | GRCh38 |
| NC_000016.9:g.227340del , CM000678.1:g.227340del | GRCh37 |
| NC_000016.8:g.167340del | NCBI36 |
| NG_000006.1:g.38204del | |
| NG_059186.1:g.5691del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000320868.9:c.359del MANE Select | ENSP00000322421.5:p.Pro120LeufsTer14 | |
| ENST00000397797.1:c.263del | ENSP00000380899.1:p.Pro88LeufsTer14 | |
| ENST00000472694.1:n.495del | ||
| NM_000558.4:c.359del | NP_000549.1:p.Pro120LeufsTer14 | |
| NM_000558.5:c.359del MANE Select | NP_000549.1:p.Pro120LeufsTer14 |