Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.42957957_42957958delinsTG , CM000677.2:g.42957957_42957958delinsTG | GRCh38 |
| NC_000015.9:g.43250155_43250156delinsTG , CM000677.1:g.43250155_43250156delinsTG | GRCh37 |
| NC_000015.8:g.41037447_41037448delinsTG | NCBI36 |
| NG_012182.1:g.153131_153132delinsCA |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000290650.9:c.4835+55_4835+56delinsCA MANE Select | ENSP00000290650.4:n.4835+55_4835+56delinsCA | |
| ENST00000290650.8:c.4835+55_4835+56delinsCA | ENSP00000290650.4:n.4835+55_4835+56delinsCA | |
| NM_174916.2:c.4835+55_4835+56delinsCA | NP_777576.1:n.4835+55_4835+56delinsCA | |
| NM_174916.3:c.4835+55_4835+56delinsCA MANE Select | NP_777576.1:n.4835+55_4835+56delinsCA |