Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.41612145_41612147delinsCAA , CM000679.2:g.41612145_41612147delinsCAA | GRCh38 |
| NC_000017.10:g.39768397_39768399delinsCAA , CM000679.1:g.39768397_39768399delinsCAA | GRCh37 |
| NC_000017.9:g.37021923_37021925delinsCAA | NCBI36 |
| NG_008301.1:g.5681_5683delinsTTG |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000301653.9:c.531+11_531+13delinsTTG MANE Select | ENSP00000301653.3:n.531+11_531+13delinsTTG | |
| ENST00000301653.8:c.531+11_531+13delinsTTG | ENSP00000301653.3:n.531+11_531+13delinsTTG | |
| ENST00000588319.1:n.619_621delinsTTG | ||
| ENST00000593067.1:c.-184+11_-184+13delinsTTG | ENSP00000467124.1:n.-184+11_-184+13delinsTTG | |
| NM_005557.3:c.531+11_531+13delinsTTG | NP_005548.2:n.531+11_531+13delinsTTG | |
| NM_005557.4:c.531+11_531+13delinsTTG MANE Select | NP_005548.2:n.531+11_531+13delinsTTG |