Linked Data
ClinVar Variation Id:
2083329
ClinVar RCV Id:
RCV003009092
dbSNP Id:
rs749539033
ExAC:
15:35084594 G / GAC
gnomAD v2:
15-35084594-G-GAC
gnomAD v4:
15-34792393-G-GAC
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.34792402_34792403dup , CM000677.2:g.34792402_34792403dup | GRCh38 |
| NC_000015.9:g.35084603_35084604dup , CM000677.1:g.35084603_35084604dup | GRCh37 |
| NC_000015.8:g.32871895_32871896dup | NCBI36 |
| NG_007553.1:g.8332_8333dup , LRG_388:g.8332_8333dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000560563.2:n.722+13_722+14dup (ACTC1) | ||
| ENST00000290378.6:c.616+13_616+14dup (ACTC1) MANE Select | ENSP00000290378.4:n.616+13_616+14dup | |
| ENST00000647798.1:n.710+13_710+14dup (ACTC1) | ||
| ENST00000648556.1:n.773+13_773+14dup (ACTC1) | ||
| ENST00000650163.1:n.696+13_696+14dup (ACTC1) | ||
| ENST00000290378.4:c.616+13_616+14dup (ACTC1) | ENSP00000290378.4:n.616+13_616+14dup | |
| ENST00000557860.1:n.306+13_306+14dup (ACTC1) | ||
| ENST00000560563.1:n.115+13_115+14dup (ACTC1) | ||
| NM_005159.4:c.616+13_616+14dup , LRG_388t1:c.616+13_616+14dup (ACTC1) | NP_005150.1:n.616+13_616+14dup | |
| NR_120329.1:n.299+14971_299+14972dup (GJD2-DT) | ||
| NM_005159.5:c.616+13_616+14dup (ACTC1) MANE Select | NP_005150.1:n.616+13_616+14dup |