Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000018.10:g.77268542_77268554delinsGCCTCCTCCTCCT , CM000680.2:g.77268542_77268554delinsGCCTCCTCCTCCT | GRCh38 |
| NC_000018.9:g.74980498_74980510delinsGCCTCCTCCTCCT , CM000680.1:g.74980498_74980510delinsGCCTCCTCCTCCT | GRCh37 |
| NC_000018.8:g.73109486_73109498delinsGCCTCCTCCTCCT | NCBI36 |
| NG_009223.1:g.23491_23503delinsGCCTCCTCCTCCT |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000299727.5:c.733-43_733-31delinsGCCTCCTCCTCCT MANE Select | ENSP00000299727.3:n.733-43_733-31delinsGC... | |
| ENST00000299727.4:c.733-43_733-31delinsGCCTCCTCCTCCT | ENSP00000299727.3:n.733-43_733-31delinsGC... | |
| NM_001480.3:c.733-43_733-31delinsGCCTCCTCCTCCT | NP_001471.2:n.733-43_733-31delinsGCCTCCTC... | |
| NM_001480.4:c.733-43_733-31delinsGCCTCCTCCTCCT MANE Select | NP_001471.2:n.733-43_733-31delinsGCCTCCTC... |