Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.68439684del , CM000663.2:g.68439684del | GRCh38 |
| NC_000001.10:g.68905367del , CM000663.1:g.68905367del | GRCh37 |
| NC_000001.9:g.68677955del | NCBI36 |
| NG_008472.1:g.15276del | |
| NG_008472.2:g.15276del |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000329.3:c.644-42del MANE Select | NP_000320.1:n.644-42del |
| ENST00000262340.6:c.644-42del MANE Select | ENSP00000262340.5:n.644-42del |
| NM_000329.2:c.644-42del | NP_000320.1:n.644-42del |
| ENST00000262340.5:c.644-42del | ENSP00000262340.5:n.644-42del |
| XM_017002027.1:c.368-42del | XP_016857516.1:n.368-42del |