Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.27750775_27750777del , CM000684.2:g.27750775_27750777del | GRCh38 |
| NC_000022.10:g.28146763_28146765del , CM000684.1:g.28146763_28146765del | GRCh37 |
| NC_000022.9:g.26476763_26476765del | NCBI36 |
| NG_023258.1:g.55722_55724del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000703102.1:n.626_628del | ||
| ENST00000302326.5:c.*138_*140del MANE Select | ENSP00000304956.4:n.*138_*140del | |
| ENST00000302326.4:c.*138_*140del | ENSP00000304956.4:n.*138_*140del | |
| ENST00000424656.1:c.454_455+1del | ||
| ENST00000497225.1:n.457_459del | ||
| NM_002430.2:c.*138_*140del | NP_002421.3:n.*138_*140del | |
| NM_002430.3:c.*138_*140del MANE Select | NP_002421.3:n.*138_*140del |