Linked Data
gnomAD v4:
14-75135048-CT-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.75135049del , CM000676.2:g.75135049del | GRCh38 |
| NC_000014.8:g.75601752del , CM000676.1:g.75601752del | GRCh37 |
| NC_000014.7:g.74671505del | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000303575.9:c.539-43del MANE Select | ENSP00000303145.4:n.539-43del | |
| ENST00000303575.8:c.539-43del | ENSP00000303145.4:n.539-43del | |
| ENST00000555036.1:n.322-43del | ||
| ENST00000555873.1:c.*175-43del | ENSP00000450726.1:n.*175-43del | |
| ENST00000556969.5:n.246-43del | ||
| ENST00000557670.5:n.267-43del | ||
| NM_006827.5:c.539-43del | NP_006818.3:n.539-43del | |
| NM_006827.6:c.539-43del MANE Select | NP_006818.3:n.539-43del |