Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.82095852del , CM000678.2:g.82095852del | GRCh38 |
| NC_000016.9:g.82129457del , CM000678.1:g.82129457del | GRCh37 |
| NC_000016.8:g.80686958del | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000199936.9:c.803-2223del MANE Select | ENSP00000199936.4:n.803-2223del | |
| ENST00000199936.8:c.803-2223del | ENSP00000199936.4:n.803-2223del | |
| ENST00000566838.2:c.5243del | ENSP00000456471.1:n.5243del | |
| ENST00000568090.5:c.395-2223del | ENSP00000456529.1:n.395-2223del | |
| NM_002153.2:c.803-2223del | NP_002144.1:n.803-2223del | |
| XR_001751898.2:n.1021-2223del | ||
| NM_002153.3:c.803-2223del MANE Select | NP_002144.1:n.803-2223del |