Linked Data
gnomAD v4:
14-24259209-CA-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.24259210del , CM000676.2:g.24259210del | GRCh38 |
| NC_000014.8:g.24728416del , CM000676.1:g.24728416del | GRCh37 |
| NC_000014.7:g.23798256del | NCBI36 |
| NG_007150.1:g.8957del | |
| NG_007150.2:g.8957del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000206765.11:c.1024del MANE Select | ENSP00000206765.6:p.Trp342GlyfsTer? | |
| ENST00000206765.10:c.1024del | ENSP00000206765.6:p.Trp342GlyfsTer? | |
| ENST00000544573.5:c.-28-822del | ENSP00000439446.1:n.-28-822del | |
| ENST00000559136.1:c.97del | ENSP00000453337.1:p.Trp33GlyfsTer? | |
| NM_000359.2:c.1024del | NP_000350.1:p.Trp342GlyfsTer? | |
| NM_000359.3:c.1024del MANE Select | NP_000350.1:p.Trp342GlyfsTer? |