Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.12717792_12717793delinsGT , CM000674.2:g.12717792_12717793delinsGT | GRCh38 |
| NC_000012.11:g.12870726_12870727delinsGT , CM000674.1:g.12870726_12870727delinsGT | GRCh37 |
| NC_000012.10:g.12761993_12761994delinsGT | NCBI36 |
| NG_016341.1:g.5425_5426delinsGT |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000614874.2:c.-48_-47delinsGT | ENSP00000507272.1:n.-48_-47delinsGT | |
| ENST00000682620.1:n.1631-1033_1631-1032delinsGT | ||
| ENST00000684771.1:n.585-1033_585-1032delinsGT | ||
| ENST00000228872.9:c.-48_-47delinsGT MANE Select | ENSP00000228872.4:n.-48_-47delinsGT | |
| ENST00000228872.8:c.-48_-47delinsGT | ENSP00000228872.4:n.-48_-47delinsGT | |
| ENST00000477087.1:n.155-1033_155-1032delinsGT | ||
| NM_004064.4:c.-48_-47delinsGT | NP_004055.1:n.-48_-47delinsGT | |
| NM_004064.5:c.-48_-47delinsGT MANE Select | NP_004055.1:n.-48_-47delinsGT |