Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.19955793_19955794del , CM000670.2:g.19955793_19955794del | GRCh38 |
| NC_000008.10:g.19813304_19813305del , CM000670.1:g.19813304_19813305del | GRCh37 |
| NC_000008.9:g.19857584_19857585del | NCBI36 |
| NG_008855.1:g.21723_21724del | |
| NG_008855.2:g.59077_59078del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000650287.1:c.776-48_776-47del MANE Select | ENSP00000497642.1:n.776-48_776-47del | |
| ENST00000311322.8:c.776-48_776-47del | ENSP00000309757.6:n.776-48_776-47del | |
| NM_000237.2:c.776-48_776-47del | NP_000228.1:n.776-48_776-47del | |
| NM_000237.3:c.776-48_776-47del MANE Select | NP_000228.1:n.776-48_776-47del |