Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.6319273del , CM000673.2:g.6319273del | GRCh38 |
| NC_000011.9:g.6340503del , CM000673.1:g.6340503del | GRCh37 |
| NC_000011.8:g.6297079del | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000303927.4:c.677del MANE Select | ENSP00000307292.3:p.Pro226LeufsTer? | |
| ENST00000303927.3:c.677del | ENSP00000307292.3:p.Pro226LeufsTer? | |
| ENST00000524852.1:n.463del | ||
| ENST00000530979.1:c.773del | ENSP00000432047.1:p.Pro258LeufsTer? | |
| ENST00000532354.1:n.699del | ||
| NM_145040.2:c.677del | NP_659477.2:p.Pro226LeufsTer? | |
| XR_930997.1:n.720+1053del | ||
| XR_242848.4:n.133del | ||
| NM_145040.3:c.677del MANE Select | NP_659477.2:p.Pro226LeufsTer? |