Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.55154518del , CM000681.2:g.55154518del | GRCh38 |
| NC_000019.9:g.55665886del , CM000681.1:g.55665886del | GRCh37 |
| NC_000019.8:g.60357698del | NCBI36 |
| NG_007866.2:g.8218del , LRG_432:g.8218del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000344887.10:c.372+226del MANE Select | ENSP00000341838.5:n.372+226del | |
| ENST00000665070.1:c.405+193del | ENSP00000499482.1:n.405+193del | |
| ENST00000344887.9:c.372+226del | ENSP00000341838.5:n.372+226del | |
| ENST00000585806.5:n.371+226del | ||
| ENST00000586669.5:n.380+226del | ||
| ENST00000587176.5:n.782del | ||
| ENST00000588882.1:c.297+226del | ENSP00000466729.1:n.297+226del | |
| NM_000363.4:c.372+226del , LRG_432t1:c.372+226del | NP_000354.4:n.372+226del | |
| NM_000363.5:c.372+226del MANE Select | NP_000354.4:n.372+226del |