ClinVar RCV:
ClinVar Variation:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.37025879_37025898del , CM000665.2:g.37025879_37025898del | GRCh38 |
| NC_000003.11:g.37067370_37067389del , CM000665.1:g.37067370_37067389del | GRCh37 |
| NC_000003.10:g.37042374_37042393del | NCBI36 |
| NG_007109.2:g.37530_37549del , LRG_216:g.37530_37549del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000413740.2:c.1281_1300del | ENSP00000416476.2:p.Gln427HisfsTer6 | |
| ENST00000429117.6:c.987_1006del | ENSP00000407019.2:p.Gln329HisfsTer6 | |
| ENST00000450420.6:c.1281_1300del | ENSP00000393006.2:p.Gln427HisfsTer6 | |
| ENST00000456676.7:c.1281_1300del | ENSP00000416687.3:p.Gln427HisfsTer6 | |
| ENST00000458009.6:c.*182_*201del | ENSP00000411066.2:n.*182_*201del | |
| ENST00000492474.6:c.558_577del | ENSP00000518393.1:p.Gln186HisfsTer6 | |
| ENST00000616768.6:c.1281_1300del | ENSP00000480669.3:p.Gln427HisfsTer6 | |
| ENST00000673673.2:c.1281_1300del | ENSP00000500979.2:p.Gln427HisfsTer6 | |
| ENST00000231790.8:c.1281_1300del MANE Select | ENSP00000231790.3:p.Gln427HisfsTer6 | |
| ENST00000413212.2:c.*199_*218del | ENSP00000400844.2:n.*199_*218del | |
| ENST00000432299.6:c.*1113_*1132del | ENSP00000416783.1:n.*1113_*1132del | |
| ENST00000441265.6:c.558_577del | ENSP00000398392.2:p.Gln186HisfsTer6 | |
| ENST00000442249.6:n.1089_1108del | ||
| ENST00000447829.6:c.*392_*411del | ENSP00000399329.2:n.*392_*411del | |
| ENST00000539477.6:c.558_577del | ENSP00000443665.1:p.Gln186HisfsTer6 | |
| ENST00000616768.5:c.318_337del | ENSP00000480669.2:p.Gln106HisfsTer6 | |
| ENST00000673673.1:c.1234_1253del | ||
| ENST00000673713.1:n.1405_1424del | ||
| ENST00000673715.1:c.1281_1300del | ENSP00000501301.1:p.Gln427HisfsTer6 | |
| ENST00000673889.1:n.663_682del | ||
| ENST00000673897.1:c.*1073_*1092del | ENSP00000501109.1:n.*1073_*1092del | |
| ENST00000673899.1:c.678-2905_678-2886del | ENSP00000501030.1:n.678-2905_678-2886del | |
| ENST00000673947.1:c.*1421_*1440del | ENSP00000501304.1:n.*1421_*1440del | |
| ENST00000673972.1:c.*1159_*1178del | ENSP00000501281.1:n.*1159_*1178del | |
| ENST00000673990.1:n.1172_1191del | ||
| ENST00000674019.1:c.558_577del | ENSP00000501081.1:p.Gln186HisfsTer6 | |
| ENST00000674107.1:n.1129_1148del | ||
| ENST00000674111.1:c.1281_1300del | ENSP00000501162.1:p.Gln427HisfsTer6 | |
| ENST00000231790.6:c.1281_1300del | ENSP00000231790.2:p.Gln427HisfsTer6 | |
| ENST00000413212.1:c.356_375del | ||
| ENST00000435176.5:c.987_1006del | ENSP00000402564.1:p.Gln329HisfsTer6 | |
| ENST00000447829.5:c.568_587del | ||
| ENST00000455445.6:c.558_577del | ENSP00000398272.2:p.Gln186HisfsTer6 | |
| ENST00000456676.6:c.1256_1275del | ||
| ENST00000458009.5:c.468_487del | ||
| ENST00000458205.6:c.558_577del | ENSP00000402667.2:p.Gln186HisfsTer6 | |
| ENST00000536378.5:c.558_577del | ENSP00000444286.2:p.Gln186HisfsTer6 | |
| ENST00000539477.5:c.558_577del | ENSP00000443665.1:p.Gln186HisfsTer6 | |
| ENST00000616768.4:c.49_68del | ||
| NM_000249.3:c.1281_1300del , LRG_216t1:c.1281_1300del | NP_000240.1:p.Gln427HisfsTer6 | |
| NM_001167617.1:c.987_1006del | NP_001161089.1:p.Gln329HisfsTer6 | |
| NM_001167618.1:c.558_577del | NP_001161090.1:p.Gln186HisfsTer6 | |
| NM_001167619.1:c.558_577del | NP_001161091.1:p.Gln186HisfsTer6 | |
| NM_001258271.1:c.1281_1300del | NP_001245200.1:p.Gln427HisfsTer6 | |
| NM_001258273.1:c.558_577del | NP_001245202.1:p.Gln186HisfsTer6 | |
| NM_001258274.1:c.558_577del | NP_001245203.1:p.Gln186HisfsTer6 | |
| XM_005265161.1:c.1074_1093del | XP_005265218.1:p.Gln358HisfsTer6 | |
| XM_005265163.1:c.558_577del | XP_005265220.1:p.Gln186HisfsTer6 | |
| XM_005265164.1:c.558_577del | XP_005265221.1:p.Gln186HisfsTer6 | |
| XM_005265166.1:c.258_277del | XP_005265223.1:p.Gln86HisfsTer6 | |
| XM_011533727.1:c.207_226del | XP_011532029.1:p.Gln69HisfsTer6 | |
| NM_001167617.2:c.987_1006del | NP_001161089.1:p.Gln329HisfsTer6 | |
| NM_001167618.2:c.558_577del | NP_001161090.1:p.Gln186HisfsTer6 | |
| NM_001167619.2:c.558_577del | NP_001161091.1:p.Gln186HisfsTer6 | |
| NM_001258274.2:c.558_577del | NP_001245203.1:p.Gln186HisfsTer6 | |
| NM_001354615.1:c.558_577del | NP_001341544.1:p.Gln186HisfsTer6 | |
| NM_001354616.1:c.558_577del | NP_001341545.1:p.Gln186HisfsTer6 | |
| NM_001354617.1:c.558_577del | NP_001341546.1:p.Gln186HisfsTer6 | |
| NM_001354618.1:c.558_577del | NP_001341547.1:p.Gln186HisfsTer6 | |
| NM_001354619.1:c.558_577del | NP_001341548.1:p.Gln186HisfsTer6 | |
| NM_001354620.1:c.987_1006del | NP_001341549.1:p.Gln329HisfsTer6 | |
| NM_001354621.1:c.258_277del | NP_001341550.1:p.Gln86HisfsTer6 | |
| NM_001354622.1:c.258_277del | NP_001341551.1:p.Gln86HisfsTer6 | |
| NM_001354623.1:c.258_277del | NP_001341552.1:p.Gln86HisfsTer6 | |
| NM_001354624.1:c.207_226del | NP_001341553.1:p.Gln69HisfsTer6 | |
| NM_001354625.1:c.207_226del | NP_001341554.1:p.Gln69HisfsTer6 | |
| NM_001354626.1:c.207_226del | NP_001341555.1:p.Gln69HisfsTer6 | |
| NM_001354627.1:c.207_226del | NP_001341556.1:p.Gln69HisfsTer6 | |
| NM_001354628.1:c.1281_1300del | NP_001341557.1:p.Gln427HisfsTer6 | |
| NM_001354629.1:c.1182_1201del | NP_001341558.1:p.Gln394HisfsTer6 | |
| NM_001354630.1:c.1281_1300del | NP_001341559.1:p.Gln427HisfsTer6 | |
| XM_005265161.2:c.1074_1093del | XP_005265218.1:p.Gln358HisfsTer6 | |
| XM_017006450.2:c.258_277del | XP_016861939.1:p.Gln86HisfsTer6 | |
| NM_000249.4:c.1281_1300del MANE Select | NP_000240.1:p.Gln427HisfsTer6 | |
| NM_001167617.3:c.987_1006del | NP_001161089.1:p.Gln329HisfsTer6 | |
| NM_001167618.3:c.558_577del | NP_001161090.1:p.Gln186HisfsTer6 | |
| NM_001167619.3:c.558_577del | NP_001161091.1:p.Gln186HisfsTer6 | |
| NM_001258271.2:c.1281_1300del | NP_001245200.1:p.Gln427HisfsTer6 | |
| NM_001258273.2:c.558_577del | NP_001245202.1:p.Gln186HisfsTer6 | |
| NM_001258274.3:c.558_577del | NP_001245203.1:p.Gln186HisfsTer6 | |
| NM_001354615.2:c.558_577del | NP_001341544.1:p.Gln186HisfsTer6 | |
| NM_001354616.2:c.558_577del | NP_001341545.1:p.Gln186HisfsTer6 | |
| NM_001354617.2:c.558_577del | NP_001341546.1:p.Gln186HisfsTer6 | |
| NM_001354618.2:c.558_577del | NP_001341547.1:p.Gln186HisfsTer6 | |
| NM_001354619.2:c.558_577del | NP_001341548.1:p.Gln186HisfsTer6 | |
| NM_001354620.2:c.987_1006del | NP_001341549.1:p.Gln329HisfsTer6 | |
| NM_001354621.2:c.258_277del | NP_001341550.1:p.Gln86HisfsTer6 | |
| NM_001354622.2:c.258_277del | NP_001341551.1:p.Gln86HisfsTer6 | |
| NM_001354623.2:c.258_277del | NP_001341552.1:p.Gln86HisfsTer6 | |
| NM_001354624.2:c.207_226del | NP_001341553.1:p.Gln69HisfsTer6 | |
| NM_001354625.2:c.207_226del | NP_001341554.1:p.Gln69HisfsTer6 | |
| NM_001354626.2:c.207_226del | NP_001341555.1:p.Gln69HisfsTer6 | |
| NM_001354627.2:c.207_226del | NP_001341556.1:p.Gln69HisfsTer6 | |
| NM_001354628.2:c.1281_1300del | NP_001341557.1:p.Gln427HisfsTer6 | |
| NM_001354629.2:c.1182_1201del | NP_001341558.1:p.Gln394HisfsTer6 | |
| NM_001354630.2:c.1281_1300del | NP_001341559.1:p.Gln427HisfsTer6 |