Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.74751971_74751972delinsGC , CM000677.2:g.74751971_74751972delinsGC | GRCh38 |
| NC_000015.9:g.75044312_75044313delinsGC , CM000677.1:g.75044312_75044313delinsGC | GRCh37 |
| NC_000015.8:g.72831365_72831366delinsGC | NCBI36 |
| NG_008431.1:g.34430_34431delinsGC | |
| NG_008431.2:g.34430_34431delinsGC | |
| NG_061543.1:g.8127_8128delinsGC |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000343932.5:c.1042+117_1042+118delinsGC MANE Select | ENSP00000342007.4:n.1042+117_1042+118deli... | |
| ENST00000343932.4:c.1042+117_1042+118delinsGC | ENSP00000342007.4:n.1042+117_1042+118deli... | |
| NM_000761.4:c.1042+117_1042+118delinsGC | NP_000752.2:n.1042+117_1042+118delinsGC | |
| NM_000761.5:c.1042+117_1042+118delinsGC MANE Select | NP_000752.2:n.1042+117_1042+118delinsGC |