Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.52451616_52451629del , CM000674.2:g.52451616_52451629del | GRCh38 |
| NC_000012.11:g.52845400_52845413del , CM000674.1:g.52845400_52845413del | GRCh37 |
| NC_000012.10:g.51131667_51131680del | NCBI36 |
| NG_008299.1:g.5498_5511del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000252252.4:c.450_463del MANE Select | ENSP00000252252.3:p.Gln151HisfsTer10 | |
| ENST00000252252.3:c.450_463del | ENSP00000252252.3:p.Gln151HisfsTer10 | |
| NM_005555.3:c.450_463del | NP_005546.2:p.Gln151HisfsTer10 | |
| NM_005555.4:c.450_463del MANE Select | NP_005546.2:p.Gln151HisfsTer10 |