Linked Data
gnomAD v4:
5-146340258-ACG-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.146340260_146340261del , CM000667.2:g.146340260_146340261del | GRCh38 |
| NC_000005.9:g.145719823_145719824del , CM000667.1:g.145719823_145719824del | GRCh37 |
| NC_000005.8:g.145700016_145700017del | NCBI36 |
| NG_011885.1:g.6237_6238del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000646991.2:c.833_834del MANE Select | ENSP00000495718.1:p.Arg278HisfsTer24 | |
| ENST00000230732.4:c.833_834del | ENSP00000230732.4:p.Arg278HisfsTer24 | |
| NM_002700.2:c.833_834del | NP_002691.1:p.Arg278HisfsTer24 | |
| NM_002700.3:c.833_834del MANE Select | NP_002691.1:p.Arg278HisfsTer24 |