Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.160881726_160881738del , CM000663.2:g.160881726_160881738del | GRCh38 |
| NC_000001.10:g.160851516_160851528del , CM000663.1:g.160851516_160851528del | GRCh37 |
| NC_000001.9:g.159118140_159118152del | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000326245.4:c.405+219_405+231del MANE Select | ENSP00000323587.3:n.405+219_405+231del | |
| ENST00000326245.3:c.405+219_405+231del | ENSP00000323587.3:n.405+219_405+231del | |
| ENST00000464077.1:n.339+219_339+231del | ||
| NM_017625.2:c.405+219_405+231del | NP_060095.2:n.405+219_405+231del | |
| NM_017625.3:c.405+219_405+231del MANE Select | NP_060095.2:n.405+219_405+231del |