Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.153743121_153743124delinsTAGC , CM000685.2:g.153743121_153743124delinsTAGC | GRCh38 |
| NC_000023.10:g.153008575_153008578delinsTAGC , CM000685.1:g.153008575_153008578delinsTAGC | GRCh37 |
| NC_000023.9:g.152661769_152661772delinsTAGC | NCBI36 |
| NG_009022.2:g.23254_23257delinsTAGC |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000218104.6:c.1865+50_1865+53delinsTAGC MANE Select | ENSP00000218104.3:n.1865+50_1865+53delinsTAGC | |
| ENST00000218104.5:c.1865+50_1865+53delinsTAGC | ENSP00000218104.3:n.1865+50_1865+53delinsTAGC | |
| NM_000033.3:c.1865+50_1865+53delinsTAGC | NP_000024.2:n.1865+50_1865+53delinsTAGC | |
| XR_938507.1:n.2337+50_2337+53delinsTAGC | ||
| XR_938507.2:n.2337+50_2337+53delinsTAGC | ||
| NM_000033.4:c.1865+50_1865+53delinsTAGC MANE Select | NP_000024.2:n.1865+50_1865+53delinsTAGC |