MaveDb:
Score
-0.345362978
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.87933229_87933230delinsGT , CM000672.2:g.87933229_87933230delinsGT | GRCh38 |
| NC_000010.10:g.89692986_89692987delinsGT , CM000672.1:g.89692986_89692987delinsGT | GRCh37 |
| NC_000010.9:g.89682966_89682967delinsGT | NCBI36 |
| NG_007466.2:g.74791_74792delinsGT , LRG_311:g.74791_74792delinsGT |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000700029.2:c.470_471delinsGT | ENSP00000514759.2:p.Glu157Gly | |
| ENST00000710265.1:c.470_471delinsGT | ENSP00000518161.1:p.Glu157Gly | |
| ENST00000472832.3:c.470_471delinsGT | ENSP00000483066.2:p.Glu157Gly | |
| ENST00000688158.2:n.1205_1206delinsGT | ||
| ENST00000688922.2:c.*300_*301delinsGT | ENSP00000508742.2:n.*300_*301delinsGT | |
| ENST00000700021.1:c.425_426delinsGT | ENSP00000514757.1:p.Glu142Gly | |
| ENST00000700022.1:c.470_471delinsGT | ENSP00000514758.1:p.Glu157Gly | |
| ENST00000700029.1:c.304_305delinsGT | ||
| ENST00000706954.1:c.470_471delinsGT | ENSP00000516674.1:p.Glu157Gly | |
| ENST00000706955.1:c.*505_*506delinsGT | ENSP00000516675.1:n.*505_*506delinsGT | |
| ENST00000686459.1:c.470_471delinsGT | ENSP00000508909.1:p.Glu157Gly | |
| ENST00000688158.1:c.*581_*582delinsGT | ENSP00000509254.1:n.*581_*582delinsGT | |
| ENST00000688308.1:c.470_471delinsGT | ENSP00000508752.1:p.Glu157Gly | |
| ENST00000688922.1:c.391_392delinsGT | ||
| ENST00000693560.1:c.989_990delinsGT | ENSP00000509861.1:p.Glu330Gly | |
| ENST00000371953.8:c.470_471delinsGT MANE Select | ENSP00000361021.3:p.Glu157Gly | |
| ENST00000371953.7:c.470_471delinsGT | ENSP00000361021.3:p.Glu157Gly | |
| ENST00000498703.1:n.296_297delinsGT | ||
| ENST00000610634.1:c.368_369delinsGT | ENSP00000477517.1:p.Glu123Gly | |
| NM_000314.5:c.470_471delinsGT | NP_000305.3:p.Glu157Gly | |
| NM_000314.6:c.470_471delinsGT | NP_000305.3:p.Glu157Gly | |
| NM_001304717.2:c.989_990delinsGT | NP_001291646.2:p.Glu330Gly | |
| NM_001304718.1:c.-281_-280delinsGT | NP_001291647.1:n.-281_-280delinsGT | |
| XM_006717926.2:c.425_426delinsGT | XP_006717989.1:p.Glu142Gly | |
| XM_011539981.1:c.470_471delinsGT | XP_011538283.1:p.Glu157Gly | |
| XM_011539982.1:c.374_375delinsGT | XP_011538284.1:p.Glu125Gly | |
| XR_945789.1:n.1182_1183delinsGT | ||
| XR_945790.1:n.1182_1183delinsGT | ||
| XR_945791.1:n.1182_1183delinsGT | ||
| NM_000314.7:c.470_471delinsGT | NP_000305.3:p.Glu157Gly | |
| NM_001304717.5:c.989_990delinsGT | NP_001291646.4:p.Glu330Gly | |
| NM_001304718.2:c.-281_-280delinsGT | NP_001291647.1:n.-281_-280delinsGT | |
| NM_000314.8:c.470_471delinsGT MANE Select | NP_000305.3:p.Glu157Gly |