Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.46837122_46837126delinsAGACG , CM000685.2:g.46837122_46837126delinsAGACG | GRCh38 |
| NC_000023.10:g.46696557_46696561delinsAGACG , CM000685.1:g.46696557_46696561delinsAGACG | GRCh37 |
| NC_000023.9:g.46581501_46581505delinsAGACG | NCBI36 |
| NG_009107.1:g.5211_5215delinsAGACG |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000218340.4:c.22_26delinsAGACG MANE Select | ENSP00000218340.3:p.Arg8= | |
| ENST00000218340.3:c.22_26delinsAGACG | ENSP00000218340.3:p.Arg8= | |
| NM_006915.2:c.22_26delinsAGACG | NP_008846.2:p.Arg8= | |
| NM_006915.3:c.22_26delinsAGACG MANE Select | NP_008846.2:p.Arg8= |