Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.177124del , CM000678.2:g.177124del | GRCh38 |
| NC_000016.9:g.227123del , CM000678.1:g.227123del | GRCh37 |
| NC_000016.8:g.167123del | NCBI36 |
| NG_000006.1:g.37987del | |
| NG_059186.1:g.5474del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000320868.9:c.291del MANE Select | ENSP00000322421.5:p.Asn98ThrfsTer5 | |
| ENST00000397797.1:c.195del | ENSP00000380899.1:p.Asn66ThrfsTer5 | |
| ENST00000472694.1:n.427del | ||
| ENST00000487791.1:n.260del | ||
| NM_000558.4:c.291del | NP_000549.1:p.Asn98ThrfsTer5 | |
| NM_000558.5:c.291del MANE Select | NP_000549.1:p.Asn98ThrfsTer5 |