Linked Data
ClinVar Variation Id:
265614
dbSNP Id:
rs886039669
MyVariant Identifiers:
chr16:g.66565285_66565286delinsAG (hg19)
chr16:g.66531382_66531383delinsAG (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.66531382_66531383delinsAG , CM000678.2:g.66531382_66531383delinsAG | GRCh38 |
| NC_000016.9:g.66565285_66565286delinsAG , CM000678.1:g.66565285_66565286delinsAG | GRCh37 |
| NC_000016.8:g.65122786_65122787delinsAG | NCBI36 |
| NG_016862.1:g.24030_24031delinsCT |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000299697.12:c.204_205delinsCT | ENSP00000299697.9:p.Pro69Ter | |
| ENST00000417693.8:c.318_319delinsCT | ENSP00000407469.5:p.Pro107Ter | |
| ENST00000451102.7:c.279_280delinsCT | ENSP00000414334.4:p.Pro94Ter | |
| ENST00000527284.6:c.316_317delinsCT | ||
| ENST00000527800.6:c.81_82delinsCT | ENSP00000433770.1:p.Pro28Ter | |
| ENST00000544898.6:c.372_373delinsCT MANE Select | ENSP00000440898.2:p.Pro125Ter | |
| ENST00000567357.6:c.*230_*231delinsCT | ENSP00000457959.2:n.*230_*231delinsCT | |
| ENST00000569718.6:c.279_280delinsCT | ENSP00000464313.2:p.Pro94Ter | |
| ENST00000620035.5:c.297_298delinsCT | ENSP00000483833.2:p.Pro100Ter | |
| ENST00000676538.1:c.33-13506_33-13505delinsCT | ||
| ENST00000677379.1:c.87_88delinsCT | ENSP00000503672.1:p.Pro30Ter | |
| ENST00000677420.1:c.81_82delinsCT | ENSP00000504648.1:p.Pro28Ter | |
| ENST00000677497.1:n.259_260delinsCT | ||
| ENST00000677555.1:c.81_82delinsCT | ENSP00000503331.1:p.Pro28Ter | |
| ENST00000677715.1:c.81_82delinsCT | ENSP00000502950.1:p.Pro28Ter | |
| ENST00000677739.1:c.55-2316_55-2315delinsCT | ENSP00000504644.1:n.55-2316_55-2315delinsCT | |
| ENST00000678015.1:c.81_82delinsCT | ENSP00000502959.1:p.Pro28Ter | |
| ENST00000678297.1:c.81_82delinsCT | ENSP00000503472.1:p.Pro28Ter | |
| ENST00000678314.1:c.81_82delinsCT | ENSP00000504438.1:p.Pro28Ter | |
| ENST00000678746.1:c.262_263delinsCT | ENSP00000503227.1:n.262_263delinsCT | |
| ENST00000679154.1:c.119_120delinsCT | ||
| ENST00000299697.11:c.372_373delinsCT | ENSP00000299697.8:p.Pro125Ter | |
| ENST00000417693.7:c.444_445delinsCT | ENSP00000407469.4:p.Pro149Ter | |
| ENST00000451102.6:c.498_499delinsCT | ENSP00000414334.3:p.Pro167Ter | |
| ENST00000525974.5:c.81_82delinsCT | ENSP00000434594.1:p.Pro28Ter | |
| ENST00000527284.5:c.279_280delinsCT | ENSP00000435312.1:p.Pro94Ter | |
| ENST00000527800.5:c.81_82delinsCT | ENSP00000433770.1:p.Pro28Ter | |
| ENST00000544898.5:c.372_373delinsCT | ENSP00000440898.2:p.Pro125Ter | |
| ENST00000545043.6:c.297_298delinsCT | ENSP00000438143.2:p.Pro100Ter | |
| ENST00000562484.2:c.81_82delinsCT | ENSP00000463326.1:p.Pro28Ter | |
| ENST00000563369.6:c.81_82delinsCT | ENSP00000463560.1:p.Pro28Ter | |
| ENST00000563478.5:c.81_82delinsCT | ENSP00000462341.1:p.Pro28Ter | |
| ENST00000564917.5:c.372_373delinsCT | ENSP00000455187.1:p.Pro125Ter | |
| ENST00000567357.5:c.*230_*231delinsCT | ENSP00000457959.1:n.*230_*231delinsCT | |
| ENST00000569718.5:c.266_267delinsCT | ||
| ENST00000620035.4:c.318_319delinsCT | ENSP00000483833.1:p.Pro107Ter | |
| NM_001172643.1:c.279_280delinsCT | NP_001166114.1:p.Pro94Ter | |
| NM_001172644.1:c.297_298delinsCT | NP_001166115.1:p.Pro100Ter | |
| NM_001172645.1:c.318_319delinsCT | NP_001166116.1:p.Pro107Ter | |
| NM_001271934.1:c.225_226delinsCT | NP_001258863.1:p.Pro76Ter | |
| NM_001271935.1:c.279_280delinsCT | NP_001258864.1:p.Pro94Ter | |
| NM_001272050.1:c.81_82delinsCT | NP_001258979.1:p.Pro28Ter | |
| NM_004614.4:c.372_373delinsCT | NP_004605.4:p.Pro125Ter | |
| NR_073520.1:n.1651_1652delinsCT | ||
| NM_001172644.2:c.297_298delinsCT | NP_001166115.1:p.Pro100Ter | |
| NM_001271934.2:c.225_226delinsCT | NP_001258863.1:p.Pro76Ter | |
| NM_001272050.2:c.81_82delinsCT | NP_001258979.1:p.Pro28Ter | |
| NM_004614.5:c.372_373delinsCT MANE Select | NP_004605.4:p.Pro125Ter | |
| NR_073520.2:n.1361_1362delinsCT | ||
| NM_001172645.2:c.318_319delinsCT | NP_001166116.1:p.Pro107Ter |