dbSNP:
gnomAD v3:
gnomAD v4:
MyVariant.info:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.66531420_66531421dup , CM000678.2:g.66531420_66531421dup | GRCh38 |
| NC_000016.9:g.66565323_66565324dup , CM000678.1:g.66565323_66565324dup | GRCh37 |
| NC_000016.8:g.65122824_65122825dup | NCBI36 |
| NG_016862.1:g.23993_23994dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000299697.12:c.167_168dup | ENSP00000299697.9:p.Val57MetfsTer20 | |
| ENST00000417693.8:c.281_282dup | ENSP00000407469.5:p.Val95MetfsTer20 | |
| ENST00000451102.7:c.242_243dup | ENSP00000414334.4:p.Val82MetfsTer20 | |
| ENST00000527284.6:c.279_280dup | ||
| ENST00000527800.6:c.44_45dup | ENSP00000433770.1:p.Val16MetfsTer20 | |
| ENST00000544898.6:c.335_336dup MANE Select | ENSP00000440898.2:p.Val113MetfsTer20 | |
| ENST00000567357.6:c.*193_*194dup | ENSP00000457959.2:n.*193_*194dup | |
| ENST00000569718.6:c.242_243dup | ENSP00000464313.2:p.Val82MetfsTer20 | |
| ENST00000620035.5:c.260_261dup | ENSP00000483833.2:p.Val88MetfsTer20 | |
| ENST00000676538.1:c.33-13543_33-13542dup | ||
| ENST00000677379.1:c.50_51dup | ENSP00000503672.1:p.Val18MetfsTer? | |
| ENST00000677420.1:c.44_45dup | ENSP00000504648.1:p.Val16MetfsTer20 | |
| ENST00000677497.1:n.222_223dup | ||
| ENST00000677555.1:c.44_45dup | ENSP00000503331.1:p.Val16MetfsTer20 | |
| ENST00000677715.1:c.44_45dup | ENSP00000502950.1:p.Val16MetfsTer20 | |
| ENST00000677739.1:c.55-2353_55-2352dup | ENSP00000504644.1:n.55-2353_55-2352dup | |
| ENST00000678015.1:c.44_45dup | ENSP00000502959.1:p.Val16MetfsTer20 | |
| ENST00000678297.1:c.44_45dup | ENSP00000503472.1:p.Val16MetfsTer20 | |
| ENST00000678314.1:c.44_45dup | ENSP00000504438.1:p.Val16MetfsTer20 | |
| ENST00000678746.1:c.225_226dup | ENSP00000503227.1:n.225_226dup | |
| ENST00000679154.1:c.82_83dup | ||
| ENST00000299697.11:c.335_336dup | ENSP00000299697.8:p.Val113MetfsTer20 | |
| ENST00000417693.7:c.407_408dup | ENSP00000407469.4:p.Val137MetfsTer20 | |
| ENST00000451102.6:c.461_462dup | ENSP00000414334.3:p.Val155MetfsTer20 | |
| ENST00000525974.5:c.44_45dup | ENSP00000434594.1:p.Val16MetfsTer20 | |
| ENST00000527284.5:c.242_243dup | ENSP00000435312.1:p.Val82MetfsTer20 | |
| ENST00000527800.5:c.44_45dup | ENSP00000433770.1:p.Val16MetfsTer20 | |
| ENST00000544898.5:c.335_336dup | ENSP00000440898.2:p.Val113MetfsTer20 | |
| ENST00000545043.6:c.260_261dup | ENSP00000438143.2:p.Val88MetfsTer20 | |
| ENST00000562484.2:c.44_45dup | ENSP00000463326.1:p.Val16MetfsTer20 | |
| ENST00000563369.6:c.44_45dup | ENSP00000463560.1:p.Val16MetfsTer20 | |
| ENST00000563478.5:c.44_45dup | ENSP00000462341.1:p.Val16MetfsTer20 | |
| ENST00000564917.5:c.335_336dup | ENSP00000455187.1:p.Val113MetfsTer20 | |
| ENST00000567357.5:c.*193_*194dup | ENSP00000457959.1:n.*193_*194dup | |
| ENST00000569718.5:c.229_230dup | ||
| ENST00000620035.4:c.281_282dup | ENSP00000483833.1:p.Val95MetfsTer20 | |
| NM_001172643.1:c.242_243dup | NP_001166114.1:p.Val82MetfsTer20 | |
| NM_001172644.1:c.260_261dup | NP_001166115.1:p.Val88MetfsTer20 | |
| NM_001172645.1:c.281_282dup | NP_001166116.1:p.Val95MetfsTer20 | |
| NM_001271934.1:c.188_189dup | NP_001258863.1:p.Val64MetfsTer20 | |
| NM_001271935.1:c.242_243dup | NP_001258864.1:p.Val82MetfsTer20 | |
| NM_001272050.1:c.44_45dup | NP_001258979.1:p.Val16MetfsTer20 | |
| NM_004614.4:c.335_336dup | NP_004605.4:p.Val113MetfsTer20 | |
| NR_073520.1:n.1614_1615dup | ||
| NM_001172644.2:c.260_261dup | NP_001166115.1:p.Val88MetfsTer20 | |
| NM_001271934.2:c.188_189dup | NP_001258863.1:p.Val64MetfsTer20 | |
| NM_001272050.2:c.44_45dup | NP_001258979.1:p.Val16MetfsTer20 | |
| NM_004614.5:c.335_336dup MANE Select | NP_004605.4:p.Val113MetfsTer20 | |
| NR_073520.2:n.1324_1325dup | ||
| NM_001172645.2:c.281_282dup | NP_001166116.1:p.Val95MetfsTer20 |