Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.19954229del , CM000670.2:g.19954229del | GRCh38 |
| NC_000008.10:g.19811740del , CM000670.1:g.19811740del | GRCh37 |
| NC_000008.9:g.19856020del | NCBI36 |
| NG_008855.1:g.20159del | |
| NG_008855.2:g.57513del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000650287.1:c.651del MANE Select | ENSP00000497642.1:p.Gly218ValfsTer? | |
| ENST00000311322.8:c.651del | ENSP00000309757.6:p.Gly218ValfsTer? | |
| NM_000237.2:c.651del | NP_000228.1:p.Gly218ValfsTer? | |
| NM_000237.3:c.651del MANE Select | NP_000228.1:p.Gly218ValfsTer? |