Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.52652106_52652108del , CM000674.2:g.52652106_52652108del | GRCh38 |
| NC_000012.11:g.53045890_53045892del , CM000674.1:g.53045890_53045892del | GRCh37 |
| NC_000012.10:g.51332157_51332159del | NCBI36 |
| NG_008296.1:g.5075_5077del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000309680.4:c.42_44del MANE Select | ENSP00000310861.3:p.Gly15del | |
| ENST00000309680.3:c.42_44del | ENSP00000310861.3:p.Gly15del | |
| NM_000423.2:c.42_44del | NP_000414.2:p.Gly15del | |
| NM_000423.3:c.42_44del MANE Select | NP_000414.2:p.Gly15del |