Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.69353599del , CM000674.2:g.69353599del | GRCh38 |
| NC_000012.11:g.69747379del , CM000674.1:g.69747379del | GRCh37 |
| NC_000012.10:g.68033646del | NCBI36 |
| NG_008195.1:g.10246del , LRG_768:g.10246del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000261267.7:c.*380del MANE Select | ENSP00000261267.2:n.*380del | |
| ENST00000261267.6:c.*380del | ENSP00000261267.2:n.*380del | |
| NM_000239.2:c.*380del , LRG_768t1:c.*380del | NP_000230.1:n.*380del | |
| NM_000239.3:c.*380del MANE Select | NP_000230.1:n.*380del |