HGVS | Genome Assembly |
---|---|
NC_000015.10:g.34789813_34789843del , CM000677.2:g.34789813_34789843del | GRCh38 |
NC_000015.9:g.35082014_35082044del , CM000677.1:g.35082014_35082044del | GRCh37 |
NC_000015.8:g.32869306_32869336del | NCBI36 |
NG_007553.1:g.10885_10915del , LRG_388:g.10885_10915del |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000290378.4:c.*570_*600del (ACTC1) | ENSP00000290378.4:n.*570_*600del | |
NM_005159.4:c.*570_*600del , LRG_388t1:c.*570_*600del (ACTC1) | NP_005150.1:n.*570_*600del | |
NR_120329.1:n.299+12382_299+12412del (GJD2-DT) |