Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.63065970del , CM000670.2:g.63065970del | GRCh38 |
| NC_000008.10:g.63978529del , CM000670.1:g.63978529del | GRCh37 |
| NC_000008.9:g.64141083del | NCBI36 |
| NG_016123.1:g.25085del |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000370.3:c.487del MANE Select | NP_000361.1:p.Trp163GlyfsTer13 |
| ENST00000260116.5:c.487del MANE Select | ENSP00000260116.4:p.Trp163GlyfsTer13 |
| ENST00000260116.4:c.487del | ENSP00000260116.4:p.Trp163GlyfsTer13 |
| ENST00000521138.1:n.233-17366del | |
| XM_006716468.2:c.205-1653del | XP_006716531.1:n.205-1653del |
| XM_006716468.4:c.205-1653del | XP_006716531.1:n.205-1653del |