Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.114707229_114707230del , CM000663.2:g.114707229_114707230del | GRCh38 |
| NC_000001.10:g.115249850_115249851del , CM000663.1:g.115249850_115249851del | GRCh37 |
| NC_000001.9:g.115051373_115051374del | NCBI36 |
| NG_007572.1:g.14665_14666del , LRG_92:g.14665_14666del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000369535.5:c.*864_*865del MANE Select | ENSP00000358548.4:n.*864_*865del | |
| ENST00000369535.4:c.*864_*865del | ENSP00000358548.4:n.*864_*865del | |
| NM_002524.4:c.*864_*865del | NP_002515.1:n.*864_*865del | |
| NM_002524.5:c.*864_*865del MANE Select | NP_002515.1:n.*864_*865del |