Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.21140686_21140687delinsTG , CM000671.2:g.21140686_21140687delinsTG | GRCh38 |
| NC_000009.11:g.21140685_21140686delinsTG , CM000671.1:g.21140685_21140686delinsTG | GRCh37 |
| NC_000009.10:g.21130685_21130686delinsTG | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000380229.4:c.*296_*297delinsCA MANE Select | ENSP00000369578.2:n.*296_*297delinsCA | |
| ENST00000380229.3:c.*296_*297delinsCA | ENSP00000369578.2:n.*296_*297delinsCA | |
| NM_002177.1:c.*296_*297delinsCA | NP_002168.1:n.*296_*297delinsCA | |
| NM_002177.2:c.*296_*297delinsCA | NP_002168.1:n.*296_*297delinsCA | |
| NM_002177.3:c.*296_*297delinsCA MANE Select | NP_002168.1:n.*296_*297delinsCA |