Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.299420_299429delinsAGGGCTGTGT , CM000673.2:g.299420_299429delinsAGGGCTGTGT | GRCh38 |
| NC_000011.9:g.299420_299429delinsAGGGCTGTGT , CM000673.1:g.299420_299429delinsAGGGCTGTGT | GRCh37 |
| NC_000011.8:g.289420_289429delinsAGGGCTGTGT | NCBI36 |
| NG_032892.1:g.5098_5107delinsACACAGCCCT |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000382614.2:c.62_71delinsACACAGCCCT MANE Select | ENSP00000372059.2:p.His21= | |
| NM_001025295.2:c.62_71delinsACACAGCCCT | NP_001020466.1:p.His21= | |
| NM_001025295.3:c.62_71delinsACACAGCCCT MANE Select | NP_001020466.1:p.His21= |