Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.25013529_25013562delinsAGGCCGCGGCGGCCGCGGCCGCGGCTGCCGCGGC , CM000685.2:g.25013529_25013562delinsAGGCCGCGGCGGCCGCGGCCGCGGCTGCCGCGGC | GRCh38 |
| NC_000023.10:g.25031646_25031679delinsAGGCCGCGGCGGCCGCGGCCGCGGCTGCCGCGGC , CM000685.1:g.25031646_25031679delinsAGGCCGCGGCGGCCGCGGCCGCGGCTGCCGCGGC | GRCh37 |
| NC_000023.9:g.24941567_24941600delinsAGGCCGCGGCGGCCGCGGCCGCGGCTGCCGCGGC | NCBI36 |
| NG_008281.1:g.7387_7420delinsGCCGCGGCAGCCGCGGCCGCGGCCGCCGCGGCCT |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000379044.5:c.433_466delinsGCCGCGGCAGCCGCGGCCGCGGCCGCCGCGGCCT MANE Select | ENSP00000368332.4:p.Ala145= | |
| ENST00000379044.4:c.433_466delinsGCCGCGGCAGCCGCGGCCGCGGCCGCCGCGGCCT | ENSP00000368332.4:p.Ala145= | |
| NM_139058.2:c.433_466delinsGCCGCGGCAGCCGCGGCCGCGGCCGCCGCGGCCT | NP_620689.1:p.Ala145= | |
| NM_139058.3:c.433_466delinsGCCGCGGCAGCCGCGGCCGCGGCCGCCGCGGCCT MANE Select | NP_620689.1:p.Ala145= |