Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.22625376_22625377delinsCA , CM000673.2:g.22625376_22625377delinsCA | GRCh38 |
| NC_000011.9:g.22646922_22646923delinsCA , CM000673.1:g.22646922_22646923delinsCA | GRCh37 |
| NC_000011.8:g.22603498_22603499delinsCA | NCBI36 |
| NG_007425.1:g.5465_5466delinsTG , LRG_527:g.5465_5466delinsTG |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000327470.6:c.434_435delinsTG MANE Select | ENSP00000330875.3:p.Met145= | |
| ENST00000327470.4:c.434_435delinsTG | ENSP00000330875.3:p.Met145= | |
| NM_022725.3:c.434_435delinsTG , LRG_527t1:c.434_435delinsTG | NP_073562.1:p.Met145= | |
| NM_022725.4:c.434_435delinsTG MANE Select | NP_073562.1:p.Met145= |