Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.46927662del , CM000666.2:g.46927662del | GRCh38 |
| NC_000004.11:g.46929679del , CM000666.1:g.46929679del | GRCh37 |
| NC_000004.10:g.46624436del | NCBI36 |
| NG_011809.1:g.70902del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000264318.4:c.*563del MANE Select | ENSP00000264318.3:n.*563del | |
| ENST00000264318.3:c.*563del | ENSP00000264318.3:n.*563del | |
| NM_000809.3:c.*563del | NP_000800.2:n.*563del | |
| NM_001204266.1:c.*563del | NP_001191195.1:n.*563del | |
| NM_001204267.1:c.*563del | NP_001191196.1:n.*563del | |
| XM_011513677.1:c.*563del | XP_011511979.1:n.*563del | |
| NM_000809.4:c.*563del MANE Select | NP_000800.2:n.*563del | |
| NM_001204266.2:c.*563del | NP_001191195.1:n.*563del | |
| NM_001204267.2:c.*563del | NP_001191196.1:n.*563del |