Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.23389062del , CM000676.2:g.23389062del | GRCh38 |
| NC_000014.8:g.23858271del , CM000676.1:g.23858271del | GRCh37 |
| NC_000014.7:g.22928111del | NCBI36 |
| NG_023444.1:g.24216del , LRG_389:g.24216del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000405093.9:c.3979-7del MANE Select | ENSP00000386041.3:n.3979-7del | |
| ENST00000356287.3:c.3979-7del | ENSP00000348634.3:n.3979-7del | |
| ENST00000405093.7:c.3979-7del | ENSP00000386041.3:n.3979-7del | |
| NM_002471.3:c.3979-7del , LRG_389t1:c.3979-7del | NP_002462.2:n.3979-7del | |
| NM_002471.4:c.3979-7del MANE Select | NP_002462.2:n.3979-7del |