Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.74751865_74751866delinsGC , CM000677.2:g.74751865_74751866delinsGC | GRCh38 |
| NC_000015.9:g.75044206_75044207delinsGC , CM000677.1:g.75044206_75044207delinsGC | GRCh37 |
| NC_000015.8:g.72831259_72831260delinsGC | NCBI36 |
| NG_008431.1:g.34324_34325delinsGC | |
| NG_008431.2:g.34324_34325delinsGC | |
| NG_061543.1:g.8021_8022delinsGC |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000343932.5:c.1042+11_1042+12delinsGC MANE Select | ENSP00000342007.4:n.1042+11_1042+12delinsGC | |
| ENST00000343932.4:c.1042+11_1042+12delinsGC | ENSP00000342007.4:n.1042+11_1042+12delinsGC | |
| NM_000761.4:c.1042+11_1042+12delinsGC | NP_000752.2:n.1042+11_1042+12delinsGC | |
| NM_000761.5:c.1042+11_1042+12delinsGC MANE Select | NP_000752.2:n.1042+11_1042+12delinsGC |