Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.23425315del , CM000676.2:g.23425315del | GRCh38 |
| NC_000014.8:g.23894524del , CM000676.1:g.23894524del | GRCh37 |
| NC_000014.7:g.22964364del | NCBI36 |
| NG_007884.1:g.15348del , LRG_384:g.15348del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000355349.4:c.2391del MANE Select | ENSP00000347507.3:p.Arg798GlufsTer16 | |
| ENST00000355349.3:c.2391del | ENSP00000347507.3:p.Arg798GlufsTer16 | |
| NM_000257.3:c.2391del | NP_000248.2:p.Arg798GlufsTer16 | |
| XR_245686.3:n.2497del | ||
| XM_017021340.1:c.2391del | XP_016876829.1:p.Arg798GlufsTer16 | |
| NM_000257.4:c.2391del MANE Select | NP_000248.2:p.Arg798GlufsTer16 |