Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.19955876del , CM000670.2:g.19955876del | GRCh38 |
| NC_000008.10:g.19813387del , CM000670.1:g.19813387del | GRCh37 |
| NC_000008.9:g.19857667del | NCBI36 |
| NG_008855.1:g.21806del | |
| NG_008855.2:g.59160del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000650287.1:c.811del MANE Select | ENSP00000497642.1:p.Ser271ProfsTer10 | |
| ENST00000311322.8:c.811del | ENSP00000309757.6:p.Ser271ProfsTer10 | |
| NM_000237.2:c.811del | NP_000228.1:p.Ser271ProfsTer10 | |
| NM_000237.3:c.811del MANE Select | NP_000228.1:p.Ser271ProfsTer10 |