Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.176990_177013del , CM000678.2:g.176990_177013del | GRCh38 |
| NC_000016.9:g.226989_227012del , CM000678.1:g.226989_227012del | GRCh37 |
| NC_000016.8:g.166989_167012del | NCBI36 |
| NG_000006.1:g.37853_37876del | |
| NG_059186.1:g.5340_5363del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000320868.9:c.157_180del MANE Select | ENSP00000322421.5:p.Ser53_Gly60del | |
| ENST00000397797.1:c.61_84del | ENSP00000380899.1:p.Ser21_Gly28del | |
| ENST00000472694.1:n.293_316del | ||
| ENST00000487791.1:n.126_149del | ||
| NM_000558.4:c.157_180del | NP_000549.1:p.Ser53_Gly60del | |
| NM_000558.5:c.157_180del MANE Select | NP_000549.1:p.Ser53_Gly60del |