Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.68431290del , CM000663.2:g.68431290del | GRCh38 |
| NC_000001.10:g.68896973del , CM000663.1:g.68896973del | GRCh37 |
| NC_000001.9:g.68669561del | NCBI36 |
| NG_008472.1:g.23671del | |
| NG_008472.2:g.23671del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000262340.6:c.1331del MANE Select | ENSP00000262340.5:p.Pro444GlnfsTer7 | |
| ENST00000262340.5:c.1331del | ENSP00000262340.5:p.Pro444GlnfsTer7 | |
| NM_000329.2:c.1331del | NP_000320.1:p.Pro444GlnfsTer7 | |
| XM_017002027.1:c.1055del | XP_016857516.1:p.Pro352GlnfsTer7 | |
| NM_000329.3:c.1331del MANE Select | NP_000320.1:p.Pro444GlnfsTer7 |