Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.25013677_25013692delinsCGCCGCCGCCGCCGCT , CM000685.2:g.25013677_25013692delinsCGCCGCCGCCGCCGCT | GRCh38 |
| NC_000023.10:g.25031794_25031809delinsCGCCGCCGCCGCCGCT , CM000685.1:g.25031794_25031809delinsCGCCGCCGCCGCCGCT | GRCh37 |
| NC_000023.9:g.24941715_24941730delinsCGCCGCCGCCGCCGCT | NCBI36 |
| NG_008281.1:g.7257_7272delinsAGCGGCGGCGGCGGCG |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000379044.5:c.303_318delinsAGCGGCGGCGGCGGCG MANE Select | ENSP00000368332.4:p.Ala101= | |
| ENST00000379044.4:c.303_318delinsAGCGGCGGCGGCGGCG | ENSP00000368332.4:p.Ala101= | |
| NM_139058.2:c.303_318delinsAGCGGCGGCGGCGGCG | NP_620689.1:p.Ala101= | |
| NM_139058.3:c.303_318delinsAGCGGCGGCGGCGGCG MANE Select | NP_620689.1:p.Ala101= |