Linked Data
ClinVar Variation Id:
1278145
ClinVar RCV Id:
RCV001694886
dbSNP Id:
rs148433308
ExAC:
15:35086857 CG / C
gnomAD v2:
15-35086857-CG-C
gnomAD v4:
15-34794656-CG-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.34794662del , CM000677.2:g.34794662del | GRCh38 |
| NC_000015.9:g.35086863del , CM000677.1:g.35086863del | GRCh37 |
| NC_000015.8:g.32874155del | NCBI36 |
| NG_007553.1:g.6070del , LRG_388:g.6070del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000560563.2:n.235+23del (ACTC1) | ||
| ENST00000290378.6:c.129+23del (ACTC1) MANE Select | ENSP00000290378.4:n.129+23del | |
| ENST00000290378.4:c.129+23del (ACTC1) | ENSP00000290378.4:n.129+23del | |
| NM_005159.4:c.129+23del , LRG_388t1:c.129+23del (ACTC1) | NP_005150.1:n.129+23del | |
| NR_120329.1:n.300-15834del (GJD2-DT) | ||
| NM_005159.5:c.129+23del (ACTC1) MANE Select | NP_005150.1:n.129+23del |