Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.20888060_20888061del , CM000684.2:g.20888060_20888061del | GRCh38 |
| NC_000022.10:g.21242348_21242349del , CM000684.1:g.21242348_21242349del | GRCh37 |
| NC_000022.9:g.19572348_19572349del | NCBI36 |
| NG_012152.1:g.34057_34058del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000215730.12:c.*224_*225del MANE Select | ENSP00000215730.6:n.*224_*225del | |
| ENST00000215730.11:c.*224_*225del | ENSP00000215730.6:n.*224_*225del | |
| NM_004782.3:c.*224_*225del | NP_004773.1:n.*224_*225del | |
| NM_004782.4:c.*224_*225del MANE Select | NP_004773.1:n.*224_*225del |