MaveDb:
Score
-0.04958407
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.87957918_87957919delinsTT , CM000672.2:g.87957918_87957919delinsTT | GRCh38 |
| NC_000010.10:g.89717675_89717676delinsTT , CM000672.1:g.89717675_89717676delinsTT | GRCh37 |
| NC_000010.9:g.89707655_89707656delinsTT | NCBI36 |
| NG_007466.2:g.99480_99481delinsTT , LRG_311:g.99480_99481delinsTT |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000700029.2:c.700_701delinsTT | ENSP00000514759.2:p.Arg234Leu | |
| ENST00000710265.1:c.700_701delinsTT | ENSP00000518161.1:p.Arg234Leu | |
| ENST00000472832.3:c.700_701delinsTT | ENSP00000483066.2:p.Arg234Leu | |
| ENST00000688158.2:n.1435_1436delinsTT | ||
| ENST00000688922.2:c.*530_*531delinsTT | ENSP00000508742.2:n.*530_*531delinsTT | |
| ENST00000700021.1:c.655_656delinsTT | ENSP00000514757.1:p.Arg219Leu | |
| ENST00000700022.1:c.*39_*40delinsTT | ENSP00000514758.1:n.*39_*40delinsTT | |
| ENST00000700023.1:n.1858_1859delinsTT | ||
| ENST00000700024.1:n.2092_2093delinsTT | ||
| ENST00000700025.1:n.1469_1470delinsTT | ||
| ENST00000700026.1:n.337_338delinsTT | ||
| ENST00000700029.1:c.534_535delinsTT | ||
| ENST00000706954.1:c.700_701delinsTT | ENSP00000516674.1:p.Arg234Leu | |
| ENST00000706955.1:c.*735_*736delinsTT | ENSP00000516675.1:n.*735_*736delinsTT | |
| ENST00000686459.1:c.*286_*287delinsTT | ENSP00000508909.1:n.*286_*287delinsTT | |
| ENST00000688158.1:c.*811_*812delinsTT | ENSP00000509254.1:n.*811_*812delinsTT | |
| ENST00000688308.1:c.700_701delinsTT | ENSP00000508752.1:p.Arg234Leu | |
| ENST00000688922.1:c.621_622delinsTT | ||
| ENST00000693560.1:c.1219_1220delinsTT | ENSP00000509861.1:p.Arg407Leu | |
| ENST00000371953.8:c.700_701delinsTT MANE Select | ENSP00000361021.3:p.Arg234Leu | |
| ENST00000371953.7:c.700_701delinsTT | ENSP00000361021.3:p.Arg234Leu | |
| ENST00000472832.2:c.127_128delinsTT | ENSP00000483066.1:p.Arg43Leu | |
| NM_000314.5:c.700_701delinsTT | NP_000305.3:p.Arg234Leu | |
| NM_000314.6:c.700_701delinsTT | NP_000305.3:p.Arg234Leu | |
| NM_001304717.2:c.1219_1220delinsTT | NP_001291646.2:p.Arg407Leu | |
| NM_001304718.1:c.109_110delinsTT | NP_001291647.1:p.Arg37Leu | |
| XM_006717926.2:c.655_656delinsTT | XP_006717989.1:p.Arg219Leu | |
| XM_011539981.1:c.700_701delinsTT | XP_011538283.1:p.Arg234Leu | |
| XM_011539982.1:c.604_605delinsTT | XP_011538284.1:p.Arg202Leu | |
| XR_945791.1:n.1270_1271delinsTT | ||
| NM_000314.7:c.700_701delinsTT | NP_000305.3:p.Arg234Leu | |
| NM_001304717.5:c.1219_1220delinsTT | NP_001291646.4:p.Arg407Leu | |
| NM_001304718.2:c.109_110delinsTT | NP_001291647.1:p.Arg37Leu | |
| NM_000314.8:c.700_701delinsTT MANE Select | NP_000305.3:p.Arg234Leu |