Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.34789097_34789098del , CM000677.2:g.34789097_34789098del | GRCh38 |
| NC_000015.9:g.35081298_35081299del , CM000677.1:g.35081298_35081299del | GRCh37 |
| NC_000015.8:g.32868590_32868591del | NCBI36 |
| NG_007553.1:g.11629_11630del , LRG_388:g.11629_11630del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000290378.4:c.*1314_*1315del (ACTC1) | ENSP00000290378.4:n.*1314_*1315del | |
| NM_005159.4:c.*1314_*1315del , LRG_388t1:c.*1314_*1315del (ACTC1) | NP_005150.1:n.*1314_*1315del | |
| NR_120329.1:n.299+11666_299+11667del (GJD2-DT) |