ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.180616873_180616875delinsA , CM000665.2:g.180616873_180616875delinsA | GRCh38 |
| NC_000003.11:g.180334661_180334663delinsA , CM000665.1:g.180334661_180334663delinsA | GRCh37 |
| NC_000003.10:g.181817355_181817357delinsA | NCBI36 |
| NG_029581.1:g.67621_67623delinsT |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000476379.6:c.2357_2359delinsT (CCDC39) MANE Select | ENSP00000417960.2:p.Ser786IlefsTer? | |
| ENST00000651046.1:c.2165_2167delinsT (CCDC39) | ENSP00000499175.1:p.Ser722IlefsTer? | |
| ENST00000651922.1:n.1682_1684delinsT (CCDC39) | ||
| ENST00000652010.1:n.2433_2435delinsT (CCDC39) | ||
| ENST00000382584.8:c.1775-507_1775-505delinsA (TTC14) | ENSP00000372027.4:n.1775-507_1775-505delinsA | |
| ENST00000442201.6:c.2357_2359delinsT | ENSP00000405708.2:p.Ser786IlefsTer? | |
| ENST00000476379.5:c.*181_*183delinsT | ENSP00000417960.1:n.*181_*183delinsT | |
| NM_001288582.1:c.1775-507_1775-505delinsA (TTC14) | NP_001275511.1:n.1775-507_1775-505delinsA | |
| NM_181426.1:c.2357_2359delinsT (CCDC39) | NP_852091.1:p.Ser786IlefsTer? | |
| NM_181426.2:c.2357_2359delinsT (CCDC39) MANE Select | NP_852091.1:p.Ser786IlefsTer? | |
| NM_001288582.2:c.1775-507_1775-505delinsA (TTC14) | NP_001275511.1:n.1775-507_1775-505delinsA |