Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.52520174_52520176del , CM000674.2:g.52520174_52520176del | GRCh38 |
| NC_000012.11:g.52913958_52913960del , CM000674.1:g.52913958_52913960del | GRCh37 |
| NC_000012.10:g.51200225_51200227del | NCBI36 |
| NG_008297.1:g.5286_5288del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000252242.9:c.123_125del MANE Select | ENSP00000252242.4:p.Gly42del | |
| ENST00000252242.8:c.123_125del | ENSP00000252242.4:p.Gly42del | |
| ENST00000546577.1:c.123_125del | ENSP00000449651.1:p.Gly42del | |
| ENST00000549420.1:c.43+80_43+82del | ENSP00000447209.1:n.43+80_43+82del | |
| ENST00000551275.1:c.123_125del | ENSP00000448041.1:p.Gly42del | |
| ENST00000552629.5:n.221_223del | ||
| NM_000424.3:c.123_125del | NP_000415.2:p.Gly42del | |
| NM_000424.4:c.123_125del MANE Select | NP_000415.2:p.Gly42del |