Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.34788984_34788989delinsATAAAC , CM000677.2:g.34788984_34788989delinsATAAAC | GRCh38 |
| NC_000015.9:g.35081185_35081190delinsATAAAC , CM000677.1:g.35081185_35081190delinsATAAAC | GRCh37 |
| NC_000015.8:g.32868477_32868482delinsATAAAC | NCBI36 |
| NG_007553.1:g.11738_11743delinsGTTTAT , LRG_388:g.11738_11743delinsGTTTAT |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000290378.4:c.*1423_*1428delinsGTTTAT (ACTC1) | ENSP00000290378.4:n.*1423_*1428delinsGTTTAT | |
| NM_005159.4:c.*1423_*1428delinsGTTTAT , LRG_388t1:c.*1423_*1428delinsGTTTAT (ACTC1) | NP_005150.1:n.*1423_*1428delinsGTTTAT | |
| NR_120329.1:n.299+11553_299+11558delinsATAAAC (GJD2-DT) |