Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.25013653_25013659delinsGGCCGCT , CM000685.2:g.25013653_25013659delinsGGCCGCT | GRCh38 |
| NC_000023.10:g.25031770_25031776delinsGGCCGCT , CM000685.1:g.25031770_25031776delinsGGCCGCT | GRCh37 |
| NC_000023.9:g.24941691_24941697delinsGGCCGCT | NCBI36 |
| NG_008281.1:g.7290_7296delinsAGCGGCC |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000379044.5:c.336_342delinsAGCGGCC MANE Select | ENSP00000368332.4:p.Ala112= | |
| ENST00000379044.4:c.336_342delinsAGCGGCC | ENSP00000368332.4:p.Ala112= | |
| NM_139058.2:c.336_342delinsAGCGGCC | NP_620689.1:p.Ala112= | |
| NM_139058.3:c.336_342delinsAGCGGCC MANE Select | NP_620689.1:p.Ala112= |