Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.55151826del , CM000681.2:g.55151826del | GRCh38 |
| NC_000019.9:g.55663194del , CM000681.1:g.55663194del | GRCh37 |
| NC_000019.8:g.60355006del | NCBI36 |
| NG_007866.2:g.10907del , LRG_432:g.10907del | |
| NG_011829.2:g.2413del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000344887.10:c.*8del MANE Select | ENSP00000341838.5:n.*8del | |
| ENST00000665070.1:c.*8del | ENSP00000499482.1:n.*8del | |
| ENST00000344887.9:c.*8del | ENSP00000341838.5:n.*8del | |
| ENST00000585806.5:n.640del | ||
| ENST00000588882.1:c.*8del | ENSP00000466729.1:n.*8del | |
| ENST00000589864.1:n.469del | ||
| NM_000363.4:c.*8del , LRG_432t1:c.*8del | NP_000354.4:n.*8del | |
| NM_000363.5:c.*8del MANE Select | NP_000354.4:n.*8del |