Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.44540901del , CM000685.2:g.44540901del | GRCh38 |
| NC_000023.10:g.44400147del , CM000685.1:g.44400147del | GRCh37 |
| NC_000023.9:g.44285091del | NCBI36 |
| NG_021288.1:g.7080del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000378045.5:c.185+1049del MANE Select | ENSP00000367284.4:n.185+1049del | |
| ENST00000378045.4:c.185+1049del | ENSP00000367284.4:n.185+1049del | |
| ENST00000483115.1:n.360+1049del | ||
| NM_173794.3:c.185+1049del | NP_776155.1:n.185+1049del | |
| NM_173794.4:c.185+1049del MANE Select | NP_776155.1:n.185+1049del |