MaveDb:
Score
-3.954582804
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.87933037_87933038delinsCA , CM000672.2:g.87933037_87933038delinsCA | GRCh38 |
| NC_000010.10:g.89692794_89692795delinsCA , CM000672.1:g.89692794_89692795delinsCA | GRCh37 |
| NC_000010.9:g.89682774_89682775delinsCA | NCBI36 |
| NG_007466.2:g.74599_74600delinsCA , LRG_311:g.74599_74600delinsCA |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000700029.2:c.278_279delinsCA | ENSP00000514759.2:p.His93Pro | |
| ENST00000710265.1:c.278_279delinsCA | ENSP00000518161.1:p.His93Pro | |
| ENST00000472832.3:c.278_279delinsCA | ENSP00000483066.2:p.His93Pro | |
| ENST00000688158.2:n.1013_1014delinsCA | ||
| ENST00000688922.2:c.*108_*109delinsCA | ENSP00000508742.2:n.*108_*109delinsCA | |
| ENST00000700021.1:c.233_234delinsCA | ENSP00000514757.1:p.His78Pro | |
| ENST00000700022.1:c.278_279delinsCA | ENSP00000514758.1:p.His93Pro | |
| ENST00000700029.1:c.112_113delinsCA | ||
| ENST00000706954.1:c.278_279delinsCA | ENSP00000516674.1:p.His93Pro | |
| ENST00000706955.1:c.*313_*314delinsCA | ENSP00000516675.1:n.*313_*314delinsCA | |
| ENST00000686459.1:c.278_279delinsCA | ENSP00000508909.1:p.His93Pro | |
| ENST00000688158.1:c.*389_*390delinsCA | ENSP00000509254.1:n.*389_*390delinsCA | |
| ENST00000688308.1:c.278_279delinsCA | ENSP00000508752.1:p.His93Pro | |
| ENST00000688922.1:c.199_200delinsCA | ||
| ENST00000693560.1:c.797_798delinsCA | ENSP00000509861.1:p.His266Pro | |
| ENST00000371953.8:c.278_279delinsCA MANE Select | ENSP00000361021.3:p.His93Pro | |
| ENST00000371953.7:c.278_279delinsCA | ENSP00000361021.3:p.His93Pro | |
| ENST00000498703.1:n.104_105delinsCA | ||
| ENST00000610634.1:c.176_177delinsCA | ENSP00000477517.1:p.His59Pro | |
| NM_000314.5:c.278_279delinsCA | NP_000305.3:p.His93Pro | |
| NM_000314.6:c.278_279delinsCA | NP_000305.3:p.His93Pro | |
| NM_001304717.2:c.797_798delinsCA | NP_001291646.2:p.His266Pro | |
| NM_001304718.1:c.-473_-472delinsCA | NP_001291647.1:n.-473_-472delinsCA | |
| XM_006717926.2:c.233_234delinsCA | XP_006717989.1:p.His78Pro | |
| XM_011539981.1:c.278_279delinsCA | XP_011538283.1:p.His93Pro | |
| XM_011539982.1:c.182_183delinsCA | XP_011538284.1:p.His61Pro | |
| XR_945789.1:n.990_991delinsCA | ||
| XR_945790.1:n.990_991delinsCA | ||
| XR_945791.1:n.990_991delinsCA | ||
| NM_000314.7:c.278_279delinsCA | NP_000305.3:p.His93Pro | |
| NM_001304717.5:c.797_798delinsCA | NP_001291646.4:p.His266Pro | |
| NM_001304718.2:c.-473_-472delinsCA | NP_001291647.1:n.-473_-472delinsCA | |
| NM_000314.8:c.278_279delinsCA MANE Select | NP_000305.3:p.His93Pro |