Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.47004166del , CM000681.2:g.47004166del | GRCh38 |
| NC_000019.9:g.47507423del , CM000681.1:g.47507423del | GRCh37 |
| NC_000019.8:g.52199263del | NCBI36 |
| NG_047014.1:g.90600del | |
| NG_047014.2:g.148170del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000404338.8:c.7978del | ENSP00000385720.2:n.7978del | |
| ENST00000672722.1:c.*3478del MANE Select | ENSP00000500409.1:n.*3478del | |
| ENST00000404338.7:c.7978del | ENSP00000385720.2:n.7978del | |
| ENST00000614079.1:c.7555del | ENSP00000483730.1:n.7555del | |
| NM_004491.4:c.7978del | NP_004482.4:n.7978del | |
| NM_004491.5:c.*3478del MANE Select | NP_004482.4:n.*3478del |