Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.177029_177061del , CM000678.2:g.177029_177061del | GRCh38 |
| NC_000016.9:g.227028_227060del , CM000678.1:g.227028_227060del | GRCh37 |
| NC_000016.8:g.167028_167060del | NCBI36 |
| NG_000006.1:g.37892_37924del | |
| NG_059186.1:g.5379_5411del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000320868.9:c.196_228del MANE Select | ENSP00000322421.5:p.Ala66_Asp76del | |
| ENST00000397797.1:c.100_132del | ENSP00000380899.1:p.Ala34_Asp44del | |
| ENST00000472694.1:n.332_364del | ||
| ENST00000487791.1:n.165_197del | ||
| NM_000558.4:c.196_228del | NP_000549.1:p.Ala66_Asp76del | |
| NM_000558.5:c.196_228del MANE Select | NP_000549.1:p.Ala66_Asp76del |