Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.118312524del , CM000673.2:g.118312524del | GRCh38 |
| NC_000011.9:g.118183239del , CM000673.1:g.118183239del | GRCh37 |
| NC_000011.8:g.117688449del | NCBI36 |
| NG_007383.1:g.12945del , LRG_38:g.12945del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000361763.9:c.104-94del MANE Select | ENSP00000354566.4:n.104-94del | |
| ENST00000361763.8:c.104-94del | ENSP00000354566.4:n.104-94del | |
| ENST00000526146.5:n.556del | ||
| ENST00000528435.5:n.563del | ||
| ENST00000528600.1:c.86-94del | ENSP00000433975.1:n.86-94del | |
| ENST00000529713.5:n.210-94del | ||
| ENST00000531913.1:n.381del | ||
| NM_000733.3:c.104-94del , LRG_38t1:c.104-94del | NP_000724.1:n.104-94del | |
| NM_000733.4:c.104-94del MANE Select | NP_000724.1:n.104-94del |