Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.154928793del , CM000685.2:g.154928793del | GRCh38 |
| NC_000023.10:g.154157068del , CM000685.1:g.154157068del | GRCh37 |
| NC_000023.9:g.153810262del | NCBI36 |
| NG_011403.1:g.98932del | |
| NG_011403.2:g.98932del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000360256.9:c.4998del MANE Select | ENSP00000353393.4:p.Gln1666HisfsTer4 | |
| ENST00000360256.8:c.4998del | ENSP00000353393.4:p.Gln1666HisfsTer4 | |
| NM_000132.3:c.4998del | NP_000123.1:p.Gln1666HisfsTer4 | |
| XM_011531126.1:c.4893del | XP_011529428.1:p.Gln1631HisfsTer4 | |
| NM_000132.4:c.4998del MANE Select | NP_000123.1:p.Gln1666HisfsTer4 |