Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.67436064del , CM000678.2:g.67436064del | GRCh38 |
| NC_000016.9:g.67469967del , CM000678.1:g.67469967del | GRCh37 |
| NC_000016.8:g.66027468del | NCBI36 |
| NG_011482.1:g.50123del | |
| NG_016549.1:g.9932del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000326152.6:c.586del MANE Select | ENSP00000316786.5:p.Ala196ArgfsTer4 | |
| ENST00000326152.5:c.586del | ENSP00000316786.5:p.Ala196ArgfsTer4 | |
| ENST00000566606.1:c.564del | ENSP00000473429.1:n.564del | |
| ENST00000567684.2:n.449del | ||
| NM_000196.3:c.586del | NP_000187.3:p.Ala196ArgfsTer4 | |
| NM_000196.4:c.586del MANE Select | NP_000187.3:p.Ala196ArgfsTer4 |