Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.20888358_20888361del , CM000684.2:g.20888358_20888361del | GRCh38 |
| NC_000022.10:g.21242646_21242649del , CM000684.1:g.21242646_21242649del | GRCh37 |
| NC_000022.9:g.19572646_19572649del | NCBI36 |
| NG_012152.1:g.34355_34358del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000215730.12:c.*522_*525del MANE Select | ENSP00000215730.6:n.*522_*525del | |
| ENST00000215730.11:c.*522_*525del | ENSP00000215730.6:n.*522_*525del | |
| NM_004782.3:c.*522_*525del | NP_004773.1:n.*522_*525del | |
| NM_004782.4:c.*522_*525del MANE Select | NP_004773.1:n.*522_*525del |