MaveDb:
Score
-3.220241023
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.87933036_87933038delinsTTG , CM000672.2:g.87933036_87933038delinsTTG | GRCh38 |
| NC_000010.10:g.89692793_89692795delinsTTG , CM000672.1:g.89692793_89692795delinsTTG | GRCh37 |
| NC_000010.9:g.89682773_89682775delinsTTG | NCBI36 |
| NG_007466.2:g.74598_74600delinsTTG , LRG_311:g.74598_74600delinsTTG |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000700029.2:c.277_279delinsTTG | ENSP00000514759.2:p.His93Leu | |
| ENST00000710265.1:c.277_279delinsTTG | ENSP00000518161.1:p.His93Leu | |
| ENST00000472832.3:c.277_279delinsTTG | ENSP00000483066.2:p.His93Leu | |
| ENST00000688158.2:n.1012_1014delinsTTG | ||
| ENST00000688922.2:c.*107_*109delinsTTG | ENSP00000508742.2:n.*107_*109delinsTTG | |
| ENST00000700021.1:c.232_234delinsTTG | ENSP00000514757.1:p.His78Leu | |
| ENST00000700022.1:c.277_279delinsTTG | ENSP00000514758.1:p.His93Leu | |
| ENST00000700029.1:c.111_113delinsTTG | ||
| ENST00000706954.1:c.277_279delinsTTG | ENSP00000516674.1:p.His93Leu | |
| ENST00000706955.1:c.*312_*314delinsTTG | ENSP00000516675.1:n.*312_*314delinsTTG | |
| ENST00000686459.1:c.277_279delinsTTG | ENSP00000508909.1:p.His93Leu | |
| ENST00000688158.1:c.*388_*390delinsTTG | ENSP00000509254.1:n.*388_*390delinsTTG | |
| ENST00000688308.1:c.277_279delinsTTG | ENSP00000508752.1:p.His93Leu | |
| ENST00000688922.1:c.198_200delinsTTG | ||
| ENST00000693560.1:c.796_798delinsTTG | ENSP00000509861.1:p.His266Leu | |
| ENST00000371953.8:c.277_279delinsTTG MANE Select | ENSP00000361021.3:p.His93Leu | |
| ENST00000371953.7:c.277_279delinsTTG | ENSP00000361021.3:p.His93Leu | |
| ENST00000498703.1:n.103_105delinsTTG | ||
| ENST00000610634.1:c.175_177delinsTTG | ENSP00000477517.1:p.His59Leu | |
| NM_000314.5:c.277_279delinsTTG | NP_000305.3:p.His93Leu | |
| NM_000314.6:c.277_279delinsTTG | NP_000305.3:p.His93Leu | |
| NM_001304717.2:c.796_798delinsTTG | NP_001291646.2:p.His266Leu | |
| NM_001304718.1:c.-474_-472delinsTTG | NP_001291647.1:n.-474_-472delinsTTG | |
| XM_006717926.2:c.232_234delinsTTG | XP_006717989.1:p.His78Leu | |
| XM_011539981.1:c.277_279delinsTTG | XP_011538283.1:p.His93Leu | |
| XM_011539982.1:c.181_183delinsTTG | XP_011538284.1:p.His61Leu | |
| XR_945789.1:n.989_991delinsTTG | ||
| XR_945790.1:n.989_991delinsTTG | ||
| XR_945791.1:n.989_991delinsTTG | ||
| NM_000314.7:c.277_279delinsTTG | NP_000305.3:p.His93Leu | |
| NM_001304717.5:c.796_798delinsTTG | NP_001291646.4:p.His266Leu | |
| NM_001304718.2:c.-474_-472delinsTTG | NP_001291647.1:n.-474_-472delinsTTG | |
| NM_000314.8:c.277_279delinsTTG MANE Select | NP_000305.3:p.His93Leu |