Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.76346969_76346972delinsACTT , CM000674.2:g.76346969_76346972delinsACTT | GRCh38 |
| NC_000012.11:g.76740749_76740752delinsACTT , CM000674.1:g.76740749_76740752delinsACTT | GRCh37 |
| NC_000012.10:g.75264880_75264883delinsACTT | NCBI36 |
| NG_016357.1:g.6471_6474delinsAAGT |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000650064.2:c.1013_1016delinsAAGT MANE Select | ENSP00000497413.1:p.Glu338= | |
| ENST00000393262.3:c.1013_1016delinsAAGT | ENSP00000376946.3:p.Glu338= | |
| NM_024685.3:c.1013_1016delinsAAGT | NP_078961.3:p.Glu338= | |
| NM_024685.4:c.1013_1016delinsAAGT MANE Select | NP_078961.3:p.Glu338= |