Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.19955886del , CM000670.2:g.19955886del | GRCh38 |
| NC_000008.10:g.19813397del , CM000670.1:g.19813397del | GRCh37 |
| NC_000008.9:g.19857677del | NCBI36 |
| NG_008855.1:g.21816del | |
| NG_008855.2:g.59170del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000650287.1:c.821del MANE Select | ENSP00000497642.1:p.Leu274ProfsTer7 | |
| ENST00000311322.8:c.821del | ENSP00000309757.6:p.Leu274ProfsTer7 | |
| NM_000237.2:c.821del | NP_000228.1:p.Leu274ProfsTer7 | |
| NM_000237.3:c.821del MANE Select | NP_000228.1:p.Leu274ProfsTer7 |