Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.186085747_186085749del , CM000666.2:g.186085747_186085749del | GRCh38 |
| NC_000004.11:g.187006901_187006903del , CM000666.1:g.187006901_187006903del | GRCh37 |
| NC_000004.10:g.187243895_187243897del | NCBI36 |
| NG_007278.1:g.21593_21595del , LRG_117:g.21593_21595del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000698352.1:c.*3141_*3143del | ENSP00000513675.1:n.*3141_*3143del | |
| ENST00000698353.1:n.3464_3466del | ||
| ENST00000698354.1:c.*874_*876del | ENSP00000513676.1:n.*874_*876del | |
| ENST00000296795.8:c.*874_*876del MANE Select | ENSP00000296795.3:n.*874_*876del | |
| ENST00000296795.7:c.*874_*876del | ENSP00000296795.2:n.*874_*876del | |
| NM_003265.3:c.*874_*876del MANE Select | NP_003256.1:n.*874_*876del |