Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.55151815_55151820del , CM000681.2:g.55151815_55151820del | GRCh38 |
| NC_000019.9:g.55663183_55663188del , CM000681.1:g.55663183_55663188del | GRCh37 |
| NC_000019.8:g.60354995_60355000del | NCBI36 |
| NG_007866.2:g.10919_10924del , LRG_432:g.10919_10924del | |
| NG_011829.2:g.2425_2430del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000344887.10:c.*20_*25del MANE Select | ENSP00000341838.5:n.*20_*25del | |
| ENST00000665070.1:c.*20_*25del | ENSP00000499482.1:n.*20_*25del | |
| ENST00000344887.9:c.*20_*25del | ENSP00000341838.5:n.*20_*25del | |
| ENST00000585806.5:n.652_657del | ||
| ENST00000588882.1:c.*20_*25del | ENSP00000466729.1:n.*20_*25del | |
| ENST00000589864.1:n.481_486del | ||
| NM_000363.4:c.*20_*25del , LRG_432t1:c.*20_*25del | NP_000354.4:n.*20_*25del | |
| NM_000363.5:c.*20_*25del MANE Select | NP_000354.4:n.*20_*25del |