ClinVar RCV:
ClinVar Variation:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.72346551_72346552delinsCA , CM000677.2:g.72346551_72346552delinsCA | GRCh38 |
| NC_000015.9:g.72638892_72638893delinsCA , CM000677.1:g.72638892_72638893delinsCA | GRCh37 |
| NC_000015.8:g.70425946_70425947delinsCA | NCBI36 |
| NG_009017.1:g.34628_34629delinsTG | |
| NG_009017.2:g.34628_34629delinsTG |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000567027.6:c.1074-227_1074-226delinsTG | ENSP00000457521.2:n.1074-227_1074-226delinsTG | |
| ENST00000682061.1:c.*967_*968delinsTG | ENSP00000508316.1:n.*967_*968delinsTG | |
| ENST00000682064.1:n.647_648delinsTG | ||
| ENST00000682177.1:c.1348_1349delinsTG | ENSP00000507409.1:n.1348_1349delinsTG | |
| ENST00000682235.1:n.644_645delinsTG | ||
| ENST00000682461.1:c.1411_1412delinsTG | ENSP00000507308.1:n.1411_1412delinsTG | |
| ENST00000682653.1:n.1625_1626delinsTG | ||
| ENST00000682657.1:c.*484-227_*484-226delinsTG | ENSP00000507753.1:n.*484-227_*484-226delinsTG | |
| ENST00000682721.1:c.*1108_*1109delinsTG | ENSP00000507535.1:n.*1108_*1109delinsTG | |
| ENST00000682843.1:c.*972-227_*972-226delinsTG | ENSP00000508173.1:n.*972-227_*972-226delinsTG | |
| ENST00000683003.1:c.*484-227_*484-226delinsTG | ENSP00000507576.1:n.*484-227_*484-226delinsTG | |
| ENST00000683133.1:c.1489_1490delinsTG | ENSP00000508108.1:n.1489_1490delinsTG | |
| ENST00000683243.1:c.*484-227_*484-226delinsTG | ENSP00000507042.1:n.*484-227_*484-226delinsTG | |
| ENST00000683463.1:c.*110_*111delinsTG | ENSP00000507986.1:n.*110_*111delinsTG | |
| ENST00000683548.1:n.1105-227_1105-226delinsTG | ||
| ENST00000683579.1:c.*1203_*1204delinsTG | ENSP00000506867.1:n.*1203_*1204delinsTG | |
| ENST00000683587.1:n.1178-227_1178-226delinsTG | ||
| ENST00000683681.1:c.1305_1306delinsTG | ENSP00000508110.1:p.Ile436Val | |
| ENST00000683735.1:c.*1045-227_*1045-226delinsTG | ENSP00000508336.1:n.*1045-227_*1045-226delinsTG | |
| ENST00000683853.1:c.*110_*111delinsTG | ENSP00000506834.1:n.*110_*111delinsTG | |
| ENST00000683860.1:c.1305_1306delinsTG | ENSP00000507179.1:p.Ile436Val | |
| ENST00000683884.1:c.1147-227_1147-226delinsTG | ENSP00000507004.1:n.1147-227_1147-226delinsTG | |
| ENST00000684041.1:c.1305_1306delinsTG | ENSP00000508382.1:p.Ile436Val | |
| ENST00000684125.1:c.1074-227_1074-226delinsTG | ENSP00000507320.1:n.1074-227_1074-226delinsTG | |
| ENST00000684203.1:n.3070_3071delinsTG | ||
| ENST00000684231.1:c.*715_*716delinsTG | ENSP00000507748.1:n.*715_*716delinsTG | |
| ENST00000684263.1:c.*245_*246delinsTG | ENSP00000508369.1:n.*245_*246delinsTG | |
| ENST00000684305.1:c.1753_1754delinsTG | ENSP00000506819.1:n.1753_1754delinsTG | |
| ENST00000684415.1:c.*172_*173delinsTG | ENSP00000507227.1:n.*172_*173delinsTG | |
| ENST00000684520.1:c.1305_1306delinsTG | ENSP00000506826.1:p.Ile436Val | |
| ENST00000684602.1:c.*971_*972delinsTG | ENSP00000507996.1:n.*971_*972delinsTG | |
| ENST00000684667.1:c.1636_1637delinsTG | ENSP00000507003.1:n.1636_1637delinsTG | |
| ENST00000268097.10:c.1305_1306delinsTG MANE Select | ENSP00000268097.6:p.Ile436Val | |
| ENST00000268097.9:c.1305_1306delinsTG | ENSP00000268097.5:p.Ile436Val | |
| ENST00000379915.4:c.413-227_413-226delinsTG | ENSP00000478716.1:n.413-227_413-226delinsTG | |
| ENST00000563762.5:c.826-227_826-226delinsTG | ENSP00000456346.1:n.826-227_826-226delinsTG | |
| ENST00000566304.5:c.1338_1339delinsTG | ENSP00000455114.1:p.Ile447Val | |
| ENST00000566672.5:c.*715_*716delinsTG | ENSP00000457037.1:n.*715_*716delinsTG | |
| ENST00000567027.5:c.946-227_946-226delinsTG | ||
| ENST00000567159.5:c.1305_1306delinsTG | ENSP00000456489.1:p.Ile436Val | |
| ENST00000567411.5:c.*826_*827delinsTG | ENSP00000455545.1:n.*826_*827delinsTG | |
| ENST00000568777.5:n.6551-227_6551-226delinsTG | ||
| ENST00000569410.5:c.*110_*111delinsTG | ENSP00000457125.1:n.*110_*111delinsTG | |
| NM_000520.4:c.1305_1306delinsTG | NP_000511.2:p.Ile436Val | |
| NM_000520.5:c.1305_1306delinsTG | NP_000511.2:p.Ile436Val | |
| NM_001318825.1:c.1338_1339delinsTG | NP_001305754.1:p.Ile447Val | |
| NR_134869.1:n.1575-227_1575-226delinsTG | ||
| NM_000520.6:c.1305_1306delinsTG MANE Select | NP_000511.2:p.Ile436Val | |
| NM_001318825.2:c.1338_1339delinsTG | NP_001305754.1:p.Ile447Val | |
| NR_134869.2:n.1116-227_1116-226delinsTG | ||
| NR_134869.3:n.1116-227_1116-226delinsTG |