Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.103086397_103086401delinsTTAAA , CM000672.2:g.103086397_103086401delinsTTAAA | GRCh38 |
| NC_000010.10:g.104846154_104846158delinsTTAAA , CM000672.1:g.104846154_104846158delinsTTAAA | GRCh37 |
| NC_000010.9:g.104836144_104836148delinsTTAAA | NCBI36 |
| NG_042272.1:g.111906_111910delinsTTTAA |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000369878.9:c.*9217_*9221delinsTTAAA MANE Select | ENSP00000358894.3:n.*9217_*9221delinsTTAAA | |
| ENST00000369878.8:c.*9217_*9221delinsTTAAA | ENSP00000358894.3:n.*9217_*9221delinsTTAAA | |
| XR_001747118.1:n.12098_12102delinsTTAAA | ||
| XR_001747121.1:n.12062_12066delinsTTAAA | ||
| NM_017649.5:c.*9217_*9221delinsTTAAA MANE Select | NP_060119.3:n.*9217_*9221delinsTTAAA | |
| NM_199076.3:c.*9217_*9221delinsTTAAA | NP_951058.1:n.*9217_*9221delinsTTAAA |