Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.83508932_83508934del , CM000685.2:g.83508932_83508934del | GRCh38 |
| NC_000023.10:g.82763940_82763942del , CM000685.1:g.82763940_82763942del | GRCh37 |
| NC_000023.9:g.82650596_82650598del | NCBI36 |
| NG_009936.2:g.5672_5674del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000644024.2:c.608_610del MANE Select | ENSP00000495996.1:p.Gln203del | |
| ENST00000373200.4:c.608_610del | ENSP00000362296.2:p.Gln203del | |
| NM_000307.4:c.608_610del | NP_000298.3:p.Gln203del | |
| NM_000307.5:c.608_610del MANE Select | NP_000298.3:p.Gln203del |