Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.25012883_25012888delinsCTCTCT , CM000685.2:g.25012883_25012888delinsCTCTCT | GRCh38 |
| NC_000023.10:g.25031000_25031005delinsCTCTCT , CM000685.1:g.25031000_25031005delinsCTCTCT | GRCh37 |
| NC_000023.9:g.24940921_24940926delinsCTCTCT | NCBI36 |
| NG_008281.1:g.8061_8066delinsAGAGAG |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000379044.5:c.1073+34_1073+39delinsAGAGAG MANE Select | ENSP00000368332.4:n.1073+34_1073+39delins... | |
| ENST00000379044.4:c.1073+34_1073+39delinsAGAGAG | ENSP00000368332.4:n.1073+34_1073+39delins... | |
| NM_139058.2:c.1073+34_1073+39delinsAGAGAG | NP_620689.1:n.1073+34_1073+39delinsAGAGAG... | |
| NM_139058.3:c.1073+34_1073+39delinsAGAGAG MANE Select | NP_620689.1:n.1073+34_1073+39delinsAGAGAG... |