ClinVar RCV:
ClinVar Variation:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.119475708_119475729delinsATATAAAAAAAGAAAA , CM000667.2:g.119475708_119475729delinsATATAAAAAAAGAAAA | GRCh38 |
| NC_000005.9:g.118811403_118811424delinsATATAAAAAAAGAAAA , CM000667.1:g.118811403_118811424delinsATATAAAAAAAGAAAA | GRCh37 |
| NC_000005.8:g.118839302_118839323delinsATATAAAAAAAGAAAA | NCBI36 |
| NG_008182.1:g.28256_28277delinsATATAAAAAAAGAAAA |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000509514.6:c.283_302+2delinsATATAAAAAAAGAAAA | ||
| ENST00000518349.6:c.112+19340_112+19361delinsATATAAAAAAAGAAAA | ENSP00000507185.1:n.112+19340_112+19361delinsATATAAAAAAAGAAAA... | |
| ENST00000682445.1:c.*164_*183+2delinsATATAAAAAAAGAAAA | ||
| ENST00000682531.1:n.384_403+2delinsATATAAAAAAAGAAAA | ||
| ENST00000682626.1:c.358_377+2delinsATATAAAAAAAGAAAA | ||
| ENST00000682996.1:c.283_302+2delinsATATAAAAAAAGAAAA | ||
| ENST00000683265.1:n.376_395+2delinsATATAAAAAAAGAAAA | ||
| ENST00000683371.1:c.*413_*432+2delinsATATAAAAAAAGAAAA | ||
| ENST00000683390.1:n.331_352delinsATATAAAAAAAGAAAA | ||
| ENST00000683936.1:c.*168_*187+2delinsATATAAAAAAAGAAAA | ||
| ENST00000683974.1:n.365_384+2delinsATATAAAAAAAGAAAA | ||
| ENST00000684160.1:c.358_377+2delinsATATAAAAAAAGAAAA | ||
| ENST00000684214.1:c.283_302+2delinsATATAAAAAAAGAAAA | ||
| ENST00000414835.7:c.358_377+2delinsATATAAAAAAAGAAAA | ||
| ENST00000510025.7:c.283_302+2delinsATATAAAAAAAGAAAA | ||
| ENST00000643250.1:c.*164_*183+2delinsATATAAAAAAAGAAAA | ||
| ENST00000644146.1:c.283_302+2delinsATATAAAAAAAGAAAA | ||
| ENST00000645832.1:c.*168_*187+2delinsATATAAAAAAAGAAAA | ||
| ENST00000646058.1:c.283_302+2delinsATATAAAAAAAGAAAA | ||
| ENST00000646355.1:c.*289_*308+2delinsATATAAAAAAAGAAAA | ||
| ENST00000646554.1:c.*164_*183+2delinsATATAAAAAAAGAAAA | ||
| ENST00000646590.1:c.283_302+2delinsATATAAAAAAAGAAAA | ||
| ENST00000647335.1:c.*250_*269+2delinsATATAAAAAAAGAAAA | ||
| ENST00000647342.1:c.*164_*183+2delinsATATAAAAAAAGAAAA | ||
| ENST00000256216.10:c.283_302+2delinsATATAAAAAAAGAAAA | ||
| ENST00000414835.6:c.-129_-110+2delinsATATAAAAAAAGAAAA | ||
| ENST00000442060.7:c.283_302+2delinsATATAAAAAAAGAAAA | ||
| ENST00000503168.5:n.272_291+2delinsATATAAAAAAAGAAAA | ||
| ENST00000504811.5:c.358_377+2delinsATATAAAAAAAGAAAA | ||
| ENST00000507695.1:n.255_274+2delinsATATAAAAAAAGAAAA | ||
| ENST00000510025.5:c.211_230+2delinsATATAAAAAAAGAAAA | ||
| ENST00000511186.5:n.414_433+2delinsATATAAAAAAAGAAAA | ||
| ENST00000512841.5:n.331_350+2delinsATATAAAAAAAGAAAA | ||
| ENST00000515235.6:n.343_362+2delinsATATAAAAAAAGAAAA | ||
| ENST00000515320.5:c.229_248+2delinsATATAAAAAAAGAAAA | ||
| NM_000414.3:c.283_302+2delinsATATAAAAAAAGAAAA | ||
| NM_001199291.2:c.358_377+2delinsATATAAAAAAAGAAAA | ||
| NM_001199292.1:c.229_248+2delinsATATAAAAAAAGAAAA | ||
| NM_001292027.1:c.211_230+2delinsATATAAAAAAAGAAAA | ||
| NM_001292028.1:c.-129_-110+2delinsATATAAAAAAAGAAAA | ||
| NM_000414.4:c.283_302+2delinsATATAAAAAAAGAAAA | ||
| NM_001199291.3:c.358_377+2delinsATATAAAAAAAGAAAA | ||
| NM_001199292.2:c.229_248+2delinsATATAAAAAAAGAAAA | ||
| NM_001292027.2:c.211_230+2delinsATATAAAAAAAGAAAA | ||
| NM_001292028.2:c.-129_-110+2delinsATATAAAAAAAGAAAA | ||
| NM_001374497.1:c.283_302+2delinsATATAAAAAAAGAAAA | ||
| NM_001374498.1:c.283_302+2delinsATATAAAAAAAGAAAA | ||
| NM_001374499.1:c.3_22+2delinsATATAAAAAAAGAAAA | ||
| NM_001374500.1:c.-256_-237+2delinsATATAAAAAAAGAAAA | ||
| NM_001374501.1:c.-129_-110+2delinsATATAAAAAAAGAAAA | ||
| NM_001374502.1:c.-129_-110+2delinsATATAAAAAAAGAAAA | ||
| NM_001374503.1:c.-129_-110+2delinsATATAAAAAAAGAAAA | ||
| NR_164653.1:n.362_381+2delinsATATAAAAAAAGAAAA | ||
| NR_164654.1:n.550_569+2delinsATATAAAAAAAGAAAA |