Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.19954177del , CM000670.2:g.19954177del | GRCh38 |
| NC_000008.10:g.19811688del , CM000670.1:g.19811688del | GRCh37 |
| NC_000008.9:g.19855968del | NCBI36 |
| NG_008855.1:g.20107del | |
| NG_008855.2:g.57461del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000650287.1:c.599del MANE Select | ENSP00000497642.1:p.Pro200LeufsTer7 | |
| ENST00000311322.8:c.599del | ENSP00000309757.6:p.Pro200LeufsTer7 | |
| NM_000237.2:c.599del | NP_000228.1:p.Pro200LeufsTer7 | |
| NM_000237.3:c.599del MANE Select | NP_000228.1:p.Pro200LeufsTer7 |