Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.22625359_22625373delinsTAGCCATTGAAGCGC , CM000673.2:g.22625359_22625373delinsTAGCCATTGAAGCGC | GRCh38 |
| NC_000011.9:g.22646905_22646919delinsTAGCCATTGAAGCGC , CM000673.1:g.22646905_22646919delinsTAGCCATTGAAGCGC | GRCh37 |
| NC_000011.8:g.22603481_22603495delinsTAGCCATTGAAGCGC | NCBI36 |
| NG_007425.1:g.5469_5483delinsGCGCTTCAATGGCTA , LRG_527:g.5469_5483delinsGCGCTTCAATGGCTA |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000327470.6:c.438_452delinsGCGCTTCAATGGCTA MANE Select | ENSP00000330875.3:p.Leu146= | |
| ENST00000327470.4:c.438_452delinsGCGCTTCAATGGCTA | ENSP00000330875.3:p.Leu146= | |
| NM_022725.3:c.438_452delinsGCGCTTCAATGGCTA , LRG_527t1:c.438_452delinsGCGCTTCAATGGCTA | NP_073562.1:p.Leu146= | |
| NM_022725.4:c.438_452delinsGCGCTTCAATGGCTA MANE Select | NP_073562.1:p.Leu146= |