Linked Data
gnomAD v4:
15-34789788-CTTCATGTTTCTTTCATAG-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.34789789_34789806del , CM000677.2:g.34789789_34789806del | GRCh38 |
| NC_000015.9:g.35081990_35082007del , CM000677.1:g.35081990_35082007del | GRCh37 |
| NC_000015.8:g.32869282_32869299del | NCBI36 |
| NG_007553.1:g.10921_10938del , LRG_388:g.10921_10938del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000290378.4:c.*606_*623del (ACTC1) | ENSP00000290378.4:n.*606_*623del | |
| NM_005159.4:c.*606_*623del , LRG_388t1:c.*606_*623del (ACTC1) | NP_005150.1:n.*606_*623del | |
| NR_120329.1:n.299+12358_299+12375del (GJD2-DT) |