Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.25013529_25013544delinsAGGCCGCGGCGGCCGC , CM000685.2:g.25013529_25013544delinsAGGCCGCGGCGGCCGC | GRCh38 |
| NC_000023.10:g.25031646_25031661delinsAGGCCGCGGCGGCCGC , CM000685.1:g.25031646_25031661delinsAGGCCGCGGCGGCCGC | GRCh37 |
| NC_000023.9:g.24941567_24941582delinsAGGCCGCGGCGGCCGC | NCBI36 |
| NG_008281.1:g.7405_7420delinsGCGGCCGCCGCGGCCT |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000379044.5:c.451_466delinsGCGGCCGCCGCGGCCT MANE Select | ENSP00000368332.4:p.Ala151= | |
| ENST00000379044.4:c.451_466delinsGCGGCCGCCGCGGCCT | ENSP00000368332.4:p.Ala151= | |
| NM_139058.2:c.451_466delinsGCGGCCGCCGCGGCCT | NP_620689.1:p.Ala151= | |
| NM_139058.3:c.451_466delinsGCGGCCGCCGCGGCCT MANE Select | NP_620689.1:p.Ala151= |