Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.52678611_52678628del , CM000674.2:g.52678611_52678628del | GRCh38 |
| NC_000012.11:g.53072395_53072412del , CM000674.1:g.53072395_53072412del | GRCh37 |
| NC_000012.10:g.51358662_51358679del | NCBI36 |
| NG_008364.1:g.6783_6800del | |
| NG_008364.2:g.6783_6800del |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_006121.4:c.723_740del MANE Select | NP_006112.3:p.Arg241_Lys246del |
| ENST00000252244.3:c.723_740del MANE Select | ENSP00000252244.3:p.Arg241_Lys246del |
| NM_006121.3:c.723_740del | NP_006112.3:p.Arg241_Lys246del |