Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.76347083_76347086delinsAGAT , CM000674.2:g.76347083_76347086delinsAGAT | GRCh38 |
| NC_000012.11:g.76740863_76740866delinsAGAT , CM000674.1:g.76740863_76740866delinsAGAT | GRCh37 |
| NC_000012.10:g.75264994_75264997delinsAGAT | NCBI36 |
| NG_016357.1:g.6357_6360delinsATCT |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000650064.2:c.899_902delinsATCT MANE Select | ENSP00000497413.1:p.His300= | |
| ENST00000393262.3:c.899_902delinsATCT | ENSP00000376946.3:p.His300= | |
| NM_024685.3:c.899_902delinsATCT | NP_078961.3:p.His300= | |
| NM_024685.4:c.899_902delinsATCT MANE Select | NP_078961.3:p.His300= |