Linked Data
dbSNP Id:
rs34561834
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.34794360_34794361insT , CM000677.2:g.34794360_34794361insT | GRCh38 |
| NC_000015.9:g.35086561_35086562insT , CM000677.1:g.35086561_35086562insT | GRCh37 |
| NC_000015.8:g.32873853_32873854insT | NCBI36 |
| NG_007553.1:g.6366_6367insA , LRG_388:g.6366_6367insA |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000560563.2:n.235+319_235+320insA (ACTC1) | ||
| ENST00000290378.6:c.129+319_129+320insA (ACTC1) MANE Select | ENSP00000290378.4:n.129+319_129+320insA | |
| ENST00000290378.4:c.129+319_129+320insA (ACTC1) | ENSP00000290378.4:n.129+319_129+320insA | |
| NM_005159.4:c.129+319_129+320insA , LRG_388t1:c.129+319_129+320insA (ACTC1) | NP_005150.1:n.129+319_129+320insA | |
| NR_120329.1:n.300-16136_300-16135insT (GJD2-DT) | ||
| NM_005159.5:c.129+319_129+320insA (ACTC1) MANE Select | NP_005150.1:n.129+319_129+320insA |