Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000021.9:g.45984384_45984385delinsAG , CM000683.2:g.45984384_45984385delinsAG | GRCh38 |
| NC_000021.8:g.47404298_47404299delinsAG , CM000683.1:g.47404298_47404299delinsAG | GRCh37 |
| NC_000021.7:g.46228726_46228727delinsAG | NCBI36 |
| NG_008674.1:g.7636_7637delinsAG , LRG_475:g.7636_7637delinsAG |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000361866.8:c.343_344delinsAG MANE Select | ENSP00000355180.3:p.Ser115= | |
| ENST00000361866.7:c.343_344delinsAG | ENSP00000355180.3:p.Ser115= | |
| ENST00000612273.1:c.343_344delinsAG | ENSP00000483630.1:p.Ser115= | |
| NM_001848.2:c.343_344delinsAG , LRG_475t1:c.343_344delinsAG | NP_001839.2:p.Ser115= | |
| NM_001848.3:c.343_344delinsAG MANE Select | NP_001839.2:p.Ser115= |