Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.229432308_229432311delinsTTCA , CM000663.2:g.229432308_229432311delinsTTCA | GRCh38 |
| NC_000001.10:g.229568055_229568058delinsTTCA , CM000663.1:g.229568055_229568058delinsTTCA | GRCh37 |
| NC_000001.9:g.227634678_227634681delinsTTCA | NCBI36 |
| NG_006672.1:g.6786_6789delinsTGAA , LRG_429:g.6786_6789delinsTGAA |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000366683.4:c.575_578delinsTGAA | ENSP00000355644.4:p.Met192= | |
| ENST00000684723.1:c.440_443delinsTGAA | ENSP00000508084.1:p.Met147= | |
| ENST00000366683.3:c.479+96_479+99delinsTGAA | ENSP00000355644.3:n.479+96_479+99delinsTGAA | |
| ENST00000366684.7:c.575_578delinsTGAA MANE Select | ENSP00000355645.3:p.Met192= | |
| NM_001100.3:c.575_578delinsTGAA , LRG_429t1:c.575_578delinsTGAA | NP_001091.1:p.Met192= | |
| NM_001100.4:c.575_578delinsTGAA MANE Select | NP_001091.1:p.Met192= |