Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.5043948_5043952delinsAAGAG , CM000674.2:g.5043948_5043952delinsAAGAG | GRCh38 |
| NC_000012.11:g.5153114_5153118delinsAAGAG , CM000674.1:g.5153114_5153118delinsAAGAG | GRCh37 |
| NC_000012.10:g.5023375_5023379delinsAAGAG | NCBI36 |
| NG_012198.1:g.5030_5034delinsAAGAG |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000252321.5:c.-200_-196delinsAAGAG MANE Select | ENSP00000252321.3:n.-200_-196delinsAAGAG | |
| NM_002234.3:c.-200_-196delinsAAGAG | NP_002225.2:n.-200_-196delinsAAGAG | |
| NM_002234.4:c.-200_-196delinsAAGAG MANE Select | NP_002225.2:n.-200_-196delinsAAGAG |