Linked Data
gnomAD v4:
15-34793439-ATCT-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.34793443_34793445del , CM000677.2:g.34793443_34793445del | GRCh38 |
| NC_000015.9:g.35085644_35085646del , CM000677.1:g.35085644_35085646del | GRCh37 |
| NC_000015.8:g.32872936_32872938del | NCBI36 |
| NG_007553.1:g.7285_7287del , LRG_388:g.7285_7287del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000560563.2:n.363_365del (ACTC1) | ||
| ENST00000290378.6:c.257_259del (ACTC1) MANE Select | ENSP00000290378.4:p.Lys86del | |
| ENST00000647798.1:n.404_406del (ACTC1) | ||
| ENST00000648556.1:n.414_416del (ACTC1) | ||
| ENST00000650163.1:n.337_339del (ACTC1) | ||
| ENST00000290378.4:c.257_259del (ACTC1) | ENSP00000290378.4:p.Lys86del | |
| NM_005159.4:c.257_259del , LRG_388t1:c.257_259del (ACTC1) | NP_005150.1:p.Lys86del | |
| NR_120329.1:n.299+16012_299+16014del (GJD2-DT) | ||
| NM_005159.5:c.257_259del (ACTC1) MANE Select | NP_005150.1:p.Lys86del |