Linked Data
gnomAD v4:
14-24256068-CAGA-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.24256072_24256074del , CM000676.2:g.24256072_24256074del | GRCh38 |
| NC_000014.8:g.24725278_24725280del , CM000676.1:g.24725278_24725280del | GRCh37 |
| NC_000014.7:g.23795118_23795120del | NCBI36 |
| NG_007150.1:g.12096_12098del | |
| NG_007150.2:g.12096_12098del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000206765.11:c.1409_1411del MANE Select | ENSP00000206765.6:p.Phe470del | |
| ENST00000206765.10:c.1409_1411del | ENSP00000206765.6:p.Phe470del | |
| ENST00000544573.5:c.83_85del | ENSP00000439446.1:p.Phe28del | |
| ENST00000559136.1:c.482_484del | ENSP00000453337.1:p.Phe161del | |
| NM_000359.2:c.1409_1411del | NP_000350.1:p.Phe470del | |
| NM_000359.3:c.1409_1411del MANE Select | NP_000350.1:p.Phe470del |