Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.52516447_52516448delinsTG , CM000674.2:g.52516447_52516448delinsTG | GRCh38 |
| NC_000012.11:g.52910231_52910232delinsTG , CM000674.1:g.52910231_52910232delinsTG | GRCh37 |
| NC_000012.10:g.51196498_51196499delinsTG | NCBI36 |
| NG_008297.1:g.9012_9013delinsCA |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000252242.9:c.1439+189_1439+190delinsCA MANE Select | ENSP00000252242.4:n.1439+189_1439+190delinsCA | |
| ENST00000252242.8:c.1439+189_1439+190delinsCA | ENSP00000252242.4:n.1439+189_1439+190delinsCA | |
| ENST00000548409.5:c.561+189_561+190delinsCA | ||
| ENST00000549511.5:n.646+189_646+190delinsCA | ||
| ENST00000552629.5:n.1726_1727delinsCA | ||
| NM_000424.3:c.1439+189_1439+190delinsCA | NP_000415.2:n.1439+189_1439+190delinsCA | |
| NM_000424.4:c.1439+189_1439+190delinsCA MANE Select | NP_000415.2:n.1439+189_1439+190delinsCA |