Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000021.9:g.44456603_44456617del , CM000683.2:g.44456603_44456617del | GRCh38 |
| NC_000021.8:g.45876486_45876500del , CM000683.1:g.45876486_45876500del | GRCh37 |
| NC_000021.7:g.44700914_44700928del | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000291592.6:c.-42_-28del MANE Select | ENSP00000291592.4:n.-42_-28del | |
| ENST00000291592.5:c.-42_-28del | ENSP00000291592.4:n.-42_-28del | |
| NM_030891.4:c.-42_-28del | NP_112153.1:n.-42_-28del | |
| NM_030891.5:c.-42_-28del | NP_112153.1:n.-42_-28del | |
| NM_030891.6:c.-42_-28del MANE Select | NP_112153.1:n.-42_-28del |