MaveDb:
Score
-3.545213145
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.87933093_87933094delinsAG , CM000672.2:g.87933093_87933094delinsAG | GRCh38 |
| NC_000010.10:g.89692850_89692851delinsAG , CM000672.1:g.89692850_89692851delinsAG | GRCh37 |
| NC_000010.9:g.89682830_89682831delinsAG | NCBI36 |
| NG_007466.2:g.74655_74656delinsAG , LRG_311:g.74655_74656delinsAG |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000700029.2:c.334_335delinsAG | ENSP00000514759.2:p.Leu112Arg | |
| ENST00000710265.1:c.334_335delinsAG | ENSP00000518161.1:p.Leu112Arg | |
| ENST00000472832.3:c.334_335delinsAG | ENSP00000483066.2:p.Leu112Arg | |
| ENST00000688158.2:n.1069_1070delinsAG | ||
| ENST00000688922.2:c.*164_*165delinsAG | ENSP00000508742.2:n.*164_*165delinsAG | |
| ENST00000700021.1:c.289_290delinsAG | ENSP00000514757.1:p.Leu97Arg | |
| ENST00000700022.1:c.334_335delinsAG | ENSP00000514758.1:p.Leu112Arg | |
| ENST00000700029.1:c.168_169delinsAG | ||
| ENST00000706954.1:c.334_335delinsAG | ENSP00000516674.1:p.Leu112Arg | |
| ENST00000706955.1:c.*369_*370delinsAG | ENSP00000516675.1:n.*369_*370delinsAG | |
| ENST00000686459.1:c.334_335delinsAG | ENSP00000508909.1:p.Leu112Arg | |
| ENST00000688158.1:c.*445_*446delinsAG | ENSP00000509254.1:n.*445_*446delinsAG | |
| ENST00000688308.1:c.334_335delinsAG | ENSP00000508752.1:p.Leu112Arg | |
| ENST00000688922.1:c.255_256delinsAG | ||
| ENST00000693560.1:c.853_854delinsAG | ENSP00000509861.1:p.Leu285Arg | |
| ENST00000371953.8:c.334_335delinsAG MANE Select | ENSP00000361021.3:p.Leu112Arg | |
| ENST00000371953.7:c.334_335delinsAG | ENSP00000361021.3:p.Leu112Arg | |
| ENST00000498703.1:n.160_161delinsAG | ||
| ENST00000610634.1:c.232_233delinsAG | ENSP00000477517.1:p.Leu78Arg | |
| NM_000314.5:c.334_335delinsAG | NP_000305.3:p.Leu112Arg | |
| NM_000314.6:c.334_335delinsAG | NP_000305.3:p.Leu112Arg | |
| NM_001304717.2:c.853_854delinsAG | NP_001291646.2:p.Leu285Arg | |
| NM_001304718.1:c.-417_-416delinsAG | NP_001291647.1:n.-417_-416delinsAG | |
| XM_006717926.2:c.289_290delinsAG | XP_006717989.1:p.Leu97Arg | |
| XM_011539981.1:c.334_335delinsAG | XP_011538283.1:p.Leu112Arg | |
| XM_011539982.1:c.238_239delinsAG | XP_011538284.1:p.Leu80Arg | |
| XR_945789.1:n.1046_1047delinsAG | ||
| XR_945790.1:n.1046_1047delinsAG | ||
| XR_945791.1:n.1046_1047delinsAG | ||
| NM_000314.7:c.334_335delinsAG | NP_000305.3:p.Leu112Arg | |
| NM_001304717.5:c.853_854delinsAG | NP_001291646.4:p.Leu285Arg | |
| NM_001304718.2:c.-417_-416delinsAG | NP_001291647.1:n.-417_-416delinsAG | |
| NM_000314.8:c.334_335delinsAG MANE Select | NP_000305.3:p.Leu112Arg |