Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.27750901_27750905delinsATCTT , CM000684.2:g.27750901_27750905delinsATCTT | GRCh38 |
| NC_000022.10:g.28146889_28146893delinsATCTT , CM000684.1:g.28146889_28146893delinsATCTT | GRCh37 |
| NC_000022.9:g.26476889_26476893delinsATCTT | NCBI36 |
| NG_023258.1:g.55594_55598delinsAAGAT |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000703102.1:n.498_502delinsAAGAT | ||
| ENST00000302326.5:c.*10_*14delinsAAGAT MANE Select | ENSP00000304956.4:n.*10_*14delinsAAGAT | |
| ENST00000302326.4:c.*10_*14delinsAAGAT | ENSP00000304956.4:n.*10_*14delinsAAGAT | |
| ENST00000424656.1:c.326_330delinsAAGAT | ||
| ENST00000497225.1:n.329_333delinsAAGAT | ||
| NM_002430.2:c.*10_*14delinsAAGAT | NP_002421.3:n.*10_*14delinsAAGAT | |
| NM_002430.3:c.*10_*14delinsAAGAT MANE Select | NP_002421.3:n.*10_*14delinsAAGAT |