Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.229432681_229432687delinsGCCTCGG , CM000663.2:g.229432681_229432687delinsGCCTCGG | GRCh38 |
| NC_000001.10:g.229568428_229568434delinsGCCTCGG , CM000663.1:g.229568428_229568434delinsGCCTCGG | GRCh37 |
| NC_000001.9:g.227635051_227635057delinsGCCTCGG | NCBI36 |
| NG_006672.1:g.6410_6416delinsCCGAGGC , LRG_429:g.6410_6416delinsCCGAGGC |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000366683.4:c.323_329delinsCCGAGGC | ENSP00000355644.4:p.Thr108= | |
| ENST00000684723.1:c.188_194delinsCCGAGGC | ENSP00000508084.1:p.Thr63= | |
| ENST00000366683.3:c.323_329delinsCCGAGGC | ENSP00000355644.3:p.Thr108= | |
| ENST00000366684.7:c.323_329delinsCCGAGGC MANE Select | ENSP00000355645.3:p.Thr108= | |
| NM_001100.3:c.323_329delinsCCGAGGC , LRG_429t1:c.323_329delinsCCGAGGC | NP_001091.1:p.Thr108= | |
| NM_001100.4:c.323_329delinsCCGAGGC MANE Select | NP_001091.1:p.Thr108= |