Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.177120del , CM000678.2:g.177120del | GRCh38 |
| NC_000016.9:g.227119del , CM000678.1:g.227119del | GRCh37 |
| NC_000016.8:g.167119del | NCBI36 |
| NG_000006.1:g.37983del | |
| NG_059186.1:g.5470del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000320868.9:c.287del MANE Select | ENSP00000322421.5:p.Pro96ArgfsTer7 | |
| ENST00000397797.1:c.191del | ENSP00000380899.1:p.Pro64ArgfsTer7 | |
| ENST00000472694.1:n.423del | ||
| ENST00000487791.1:n.256del | ||
| NM_000558.4:c.287del | NP_000549.1:p.Pro96ArgfsTer7 | |
| NM_000558.5:c.287del MANE Select | NP_000549.1:p.Pro96ArgfsTer7 |