Linked Data
gnomAD v4:
15-34790120-T-TCATGATTCTGTCTCAAAATATGAAATCAA
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.34790120_34790121insCATGATTCTGTCTCAAAATATGAAATCAA , CM000677.2:g.34790120_34790121insCATGATTCTGTCTCAAAATATGAAATCAA | GRCh38 |
| NC_000015.9:g.35082321_35082322insCATGATTCTGTCTCAAAATATGAAATCAA , CM000677.1:g.35082321_35082322insCATGATTCTGTCTCAAAATATGAAATCAA | GRCh37 |
| NC_000015.8:g.32869613_32869614insCATGATTCTGTCTCAAAATATGAAATCAA | NCBI36 |
| NG_007553.1:g.10606_10607insTTGATTTCATATTTTGAGACAGAATCATG , LRG_388:g.10606_10607insTTGATTTCATATTTTGAGACAGAATCATG |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000560563.2:n.2325_2326insTTGATTTCATATTTTGAGACAGAATCATG (ACTC1) | ||
| ENST00000290378.4:c.*291_*292insTTGATTTCATATTTTGAGACAGAATCATG (ACTC1) | ENSP00000290378.4:n.*291_*292insTTGATTTCATATTTTGAGACAGAATCATG... | |
| NM_005159.4:c.*291_*292insTTGATTTCATATTTTGAGACAGAATCATG , LRG_388t1:c.*291_*292insTTGATTTCATATTTTGAGACAGAATCATG (ACTC1) | NP_005150.1:n.*291_*292insTTGATTTCATATTTTGAGACAGAATCATG | |
| NR_120329.1:n.299+12689_299+12690insCATGATTCTGTCTCAAAATATGAAATCAA (GJD2-DT) |