Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.38363527_38363536delinsGCTGACATCA , CM000682.2:g.38363527_38363536delinsGCTGACATCA | GRCh38 |
| NC_000020.10:g.36992181_36992190delinsGCTGACATCA , CM000682.1:g.36992181_36992190delinsGCTGACATCA | GRCh37 |
| NC_000020.9:g.36425595_36425604delinsGCTGACATCA | NCBI36 |
| NG_034239.1:g.22117_22126delinsGCTGACATCA |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000217407.3:c.653-448_653-439delinsGCTGACATCA MANE Select | ENSP00000217407.2:n.653-448_653-439delinsGCTGACATCA | |
| ENST00000217407.2:c.653-448_653-439delinsGCTGACATCA | ENSP00000217407.2:n.653-448_653-439delinsGCTGACATCA | |
| NM_004139.4:c.653-448_653-439delinsGCTGACATCA | NP_004130.2:n.653-448_653-439delinsGCTGACATCA | |
| NM_004139.5:c.653-448_653-439delinsGCTGACATCA MANE Select | NP_004130.2:n.653-448_653-439delinsGCTGACATCA |