Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.71720636del , CM000667.2:g.71720636del | GRCh38 |
| NC_000005.9:g.71016463del , CM000667.1:g.71016463del | GRCh37 |
| NC_000005.8:g.71052219del | NCBI36 |
| NG_015988.1:g.6474del |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_004291.4:c.*21del MANE Select | NP_004282.1:n.*21del |
| ENST00000296777.5:c.*21del MANE Select | ENSP00000296777.4:n.*21del |
| NM_004291.3:c.*21del | NP_004282.1:n.*21del |
| ENST00000296777.4:c.*21del | ENSP00000296777.4:n.*21del |
| ENST00000513096.1:n.514del |