Linked Data
COSMIC:
COSN18881549
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.34789485_34789486insT , CM000677.2:g.34789485_34789486insT | GRCh38 |
| NC_000015.9:g.35081686_35081687insT , CM000677.1:g.35081686_35081687insT | GRCh37 |
| NC_000015.8:g.32868978_32868979insT | NCBI36 |
| NG_007553.1:g.11241_11242insA , LRG_388:g.11241_11242insA |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000290378.4:c.*926_*927insA (ACTC1) | ENSP00000290378.4:n.*926_*927insA | |
| NM_005159.4:c.*926_*927insA , LRG_388t1:c.*926_*927insA (ACTC1) | NP_005150.1:n.*926_*927insA | |
| NR_120329.1:n.299+12054_299+12055insT (GJD2-DT) |