Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.118313702del , CM000673.2:g.118313702del | GRCh38 |
| NC_000011.9:g.118184417del , CM000673.1:g.118184417del | GRCh37 |
| NC_000011.8:g.117689627del | NCBI36 |
| NG_007383.1:g.14123del , LRG_38:g.14123del |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000733.4:c.353-5del MANE Select | NP_000724.1:n.353-5del |
| ENST00000361763.9:c.353-5del MANE Select | ENSP00000354566.4:n.353-5del |
| NM_000733.3:c.353-5del , LRG_38t1:c.353-5del | NP_000724.1:n.353-5del |
| ENST00000361763.8:c.353-5del | ENSP00000354566.4:n.353-5del |
| ENST00000526146.5:n.1734del | |
| ENST00000528435.5:n.906-5del | |
| ENST00000528600.1:c.335-5del | ENSP00000433975.1:n.335-5del |
| ENST00000531913.1:n.724-5del |