Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.114713800_114713801delinsCT , CM000663.2:g.114713800_114713801delinsCT | GRCh38 |
| NC_000001.10:g.115256421_115256422delinsCT , CM000663.1:g.115256421_115256422delinsCT | GRCh37 |
| NC_000001.9:g.115057944_115057945delinsCT | NCBI36 |
| NG_007572.1:g.8094_8095delinsAG , LRG_92:g.8094_8095delinsAG |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000369535.5:c.289_290delinsAG MANE Select | ENSP00000358548.4:p.Arg97= | |
| ENST00000369535.4:c.289_290delinsAG | ENSP00000358548.4:p.Arg97= | |
| NM_002524.4:c.289_290delinsAG | NP_002515.1:p.Arg97= | |
| NM_002524.5:c.289_290delinsAG MANE Select | NP_002515.1:p.Arg97= |