Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.87715006del , CM000672.2:g.87715006del | GRCh38 |
| NC_000010.10:g.89474763del , CM000672.1:g.89474763del | GRCh37 |
| NC_000010.9:g.89464743del | NCBI36 |
| NG_012150.1:g.60288del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000456849.2:c.661del MANE Select | ENSP00000406157.1:p.Ile221SerfsTer? | |
| ENST00000361175.8:c.661del | ENSP00000354436.4:p.Ile221SerfsTer? | |
| ENST00000456849.1:c.661del | ENSP00000406157.1:p.Ile221SerfsTer? | |
| NM_001015880.1:c.661del | NP_001015880.1:p.Ile221SerfsTer? | |
| NM_004670.3:c.661del | NP_004661.2:p.Ile221SerfsTer? | |
| NM_001015880.2:c.661del MANE Select | NP_001015880.1:p.Ile221SerfsTer? | |
| NM_004670.4:c.661del | NP_004661.2:p.Ile221SerfsTer? |