Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.14076937_14076938del , CM000673.2:g.14076937_14076938del | GRCh38 |
| NC_000011.9:g.14098484_14098485del , CM000673.1:g.14098484_14098485del | GRCh37 |
| NC_000011.8:g.14055060_14055061del | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000576479.4:c.553+1519_553+1520del MANE Select | ENSP00000460236.1:n.553+1519_553+1520del | |
| ENST00000576479.3:c.553+1519_553+1520del | ENSP00000460236.1:n.553+1519_553+1520del | |
| NM_006108.3:c.553+1519_553+1520del | NP_006099.2:n.553+1519_553+1520del | |
| NM_006108.4:c.553+1519_553+1520del MANE Select | NP_006099.2:n.553+1519_553+1520del |