MaveDb:
Score
-3.407494813
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.87864513_87864514delinsTT , CM000672.2:g.87864513_87864514delinsTT | GRCh38 |
| NC_000010.10:g.89624270_89624271delinsTT , CM000672.1:g.89624270_89624271delinsTT | GRCh37 |
| NC_000010.9:g.89614250_89614251delinsTT | NCBI36 |
| NG_007466.2:g.6075_6076delinsTT , LRG_311:g.6075_6076delinsTT | |
| NG_033079.1:g.3924_3925delinsAA |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000700029.2:c.44_45delinsTT | ENSP00000514759.2:p.Arg15Ile | |
| ENST00000710265.1:c.44_45delinsTT | ENSP00000518161.1:p.Arg15Ile | |
| ENST00000472832.3:c.44_45delinsTT | ENSP00000483066.2:p.Arg15Ile | |
| ENST00000688922.2:c.44_45delinsTT | ENSP00000508742.2:p.Arg15Ile | |
| ENST00000700021.1:c.44_45delinsTT | ENSP00000514757.1:p.Arg15Ile | |
| ENST00000700022.1:c.44_45delinsTT | ENSP00000514758.1:p.Arg15Ile | |
| ENST00000706954.1:c.44_45delinsTT | ENSP00000516674.1:p.Arg15Ile | |
| ENST00000706955.1:c.44_45delinsTT | ENSP00000516675.1:p.Arg15Ile | |
| ENST00000686459.1:c.44_45delinsTT | ENSP00000508909.1:p.Arg15Ile | |
| ENST00000688158.1:c.44_45delinsTT | ENSP00000509254.1:p.Arg15Ile | |
| ENST00000688308.1:c.44_45delinsTT | ENSP00000508752.1:p.Arg15Ile | |
| ENST00000693560.1:c.563_564delinsTT | ENSP00000509861.1:p.Arg188Ile | |
| ENST00000371953.8:c.44_45delinsTT MANE Select | ENSP00000361021.3:p.Arg15Ile | |
| ENST00000371953.7:c.44_45delinsTT | ENSP00000361021.3:p.Arg15Ile | |
| ENST00000462694.1:n.46_47delinsTT | ||
| ENST00000487939.1:n.65_66delinsTT | ||
| ENST00000610634.1:c.-59_-58delinsTT | ENSP00000477517.1:n.-59_-58delinsTT | |
| ENST00000618586.1:n.13_14delinsTT | ||
| NM_000314.5:c.44_45delinsTT | NP_000305.3:p.Arg15Ile | |
| NM_000314.6:c.44_45delinsTT | NP_000305.3:p.Arg15Ile | |
| NM_001304717.2:c.563_564delinsTT | NP_001291646.2:p.Arg188Ile | |
| NM_001304718.1:c.-662_-661delinsTT | NP_001291647.1:n.-662_-661delinsTT | |
| XM_006717926.2:c.44_45delinsTT | XP_006717989.1:p.Arg15Ile | |
| XM_011539981.1:c.44_45delinsTT | XP_011538283.1:p.Arg15Ile | |
| XR_945789.1:n.756_757delinsTT | ||
| XR_945790.1:n.756_757delinsTT | ||
| XR_945791.1:n.756_757delinsTT | ||
| NM_000314.7:c.44_45delinsTT | NP_000305.3:p.Arg15Ile | |
| NM_001304717.5:c.563_564delinsTT | NP_001291646.4:p.Arg188Ile | |
| NM_001304718.2:c.-662_-661delinsTT | NP_001291647.1:n.-662_-661delinsTT | |
| NM_000314.8:c.44_45delinsTT MANE Select | NP_000305.3:p.Arg15Ile |