Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.42963240_42963242delinsGTT , CM000666.2:g.42963240_42963242delinsGTT | GRCh38 |
| NC_000004.11:g.42965257_42965259delinsGTT , CM000666.1:g.42965257_42965259delinsGTT | GRCh37 |
| NC_000004.10:g.42660014_42660016delinsGTT | NCBI36 |
| NG_027718.1:g.74975_74977delinsGTT |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000399770.3:c.627+106_627+108delinsGTT MANE Select | ENSP00000382670.2:n.627+106_627+108delinsGTT | |
| ENST00000399770.2:c.627+106_627+108delinsGTT | ENSP00000382670.2:n.627+106_627+108delinsGTT | |
| NM_001080476.2:c.627+106_627+108delinsGTT | NP_001073945.1:n.627+106_627+108delinsGTT | |
| XM_011513691.1:c.264+106_264+108delinsGTT | XP_011511993.1:n.264+106_264+108delinsGTT | |
| NM_001080476.3:c.627+106_627+108delinsGTT MANE Select | NP_001073945.1:n.627+106_627+108delinsGTT |