gnomAD v2:
gnomAD v4:
Joint Max Group AF
0.00002863 (SAS)
Exomes Max Group AF
0.00002995 (SAS)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.49419354_49419355del , CM000665.2:g.49419354_49419355del | GRCh38 |
| NC_000003.11:g.49456787_49456788del , CM000665.1:g.49456787_49456788del | GRCh37 |
| NC_000003.10:g.49431791_49431792del | NCBI36 |
| NG_015986.1:g.8325_8326del , LRG_537:g.8325_8326del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000273588.9:c.602_603del MANE Select | ENSP00000273588.3:p.Lys201ThrfsTer? | |
| ENST00000395338.7:c.602_603del | ENSP00000378747.2:p.Lys201ThrfsTer? | |
| ENST00000399379.7:c.353-19_353-18del | ENSP00000399943.2:n.353-19_353-18del | |
| ENST00000427987.6:c.458_459del | ENSP00000403821.2:p.Lys153ThrfsTer? | |
| ENST00000430521.2:c.*404_*405del | ENSP00000388068.2:n.*404_*405del | |
| ENST00000465925.6:n.2496_2497del | ||
| ENST00000473163.2:n.3110_3111del | ||
| ENST00000476127.6:n.850-19_850-18del | ||
| ENST00000476226.6:n.1023_1024del | ||
| ENST00000476828.2:n.1301_1302del | ||
| ENST00000478594.6:n.1029_1030del | ||
| ENST00000480957.6:n.2495_2496del | ||
| ENST00000487589.6:n.515_516del | ||
| ENST00000491800.3:n.3119_3120del | ||
| ENST00000493046.6:n.2749+356_2749+357del | ||
| ENST00000538581.6:c.458_459del | ENSP00000443200.2:p.Lys153ThrfsTer? | |
| ENST00000635772.1:n.1332_1333del | ||
| ENST00000635798.1:n.297_298del | ||
| ENST00000635808.1:c.521_522del | ENSP00000489620.1:p.Lys174ThrfsTer? | |
| ENST00000635889.1:n.1033_1034del | ||
| ENST00000635907.1:n.497_498del | ||
| ENST00000635936.1:n.965-203_965-202del | ||
| ENST00000636023.1:c.551-203_551-202del | ENSP00000489969.1:n.551-203_551-202del | |
| ENST00000636070.1:c.*382_*383del | ENSP00000490160.1:n.*382_*383del | |
| ENST00000636148.1:n.2547_2548del | ||
| ENST00000636166.1:c.839_840del | ENSP00000490106.1:p.Lys280ThrfsTer? | |
| ENST00000636199.1:c.259-203_259-202del | ENSP00000490871.1:n.259-203_259-202del | |
| ENST00000636204.1:n.1884_1885del | ||
| ENST00000636461.1:c.4136_4137del | ||
| ENST00000636522.1:c.434_435del | ENSP00000489758.1:p.Lys145ThrfsTer? | |
| ENST00000636587.1:n.783-203_783-202del | ||
| ENST00000636597.1:c.550+356_550+357del | ENSP00000490251.1:n.550+356_550+357del | |
| ENST00000636725.1:n.1318_1319del | ||
| ENST00000636803.1:n.963-19_963-18del | ||
| ENST00000636865.1:c.446_447del | ENSP00000490601.1:p.Lys149ThrfsTer? | |
| ENST00000636871.1:n.967_968del | ||
| ENST00000636978.1:n.606_607del | ||
| ENST00000636991.1:n.1047_1048del | ||
| ENST00000637059.1:c.149-203_149-202del | ENSP00000490153.1:n.149-203_149-202del | |
| ENST00000637088.1:n.5414_5415del | ||
| ENST00000637114.1:n.594_595del | ||
| ENST00000637268.1:n.1333_1334del | ||
| ENST00000637291.1:n.1336_1337del | ||
| ENST00000637442.1:n.2823_2824del | ||
| ENST00000637455.1:c.413_414del | ENSP00000489628.1:p.Lys138ThrfsTer? | |
| ENST00000637457.1:n.1355_1356del | ||
| ENST00000637682.1:c.602_603del | ENSP00000489856.1:p.Lys201ThrfsTer? | |
| ENST00000637684.1:n.704_705del | ||
| ENST00000637821.1:c.*804_*805del | ENSP00000490482.1:n.*804_*805del | |
| ENST00000637914.1:n.2496_2497del | ||
| ENST00000637982.1:n.1016_1017del | ||
| ENST00000637994.1:n.1034_1035del | ||
| ENST00000638014.1:c.3383_3384del | ||
| ENST00000638063.1:c.521_522del | ENSP00000489760.1:p.Lys174ThrfsTer? | |
| ENST00000638079.1:c.*1114_*1115del | ENSP00000490120.1:n.*1114_*1115del | |
| ENST00000638092.1:n.1014_1015del | ||
| ENST00000638115.1:c.*2363_*2364del | ENSP00000490296.1:n.*2363_*2364del | |
| ENST00000273588.7:c.602_603del | ENSP00000273588.3:p.Lys201ThrfsTer? | |
| ENST00000395338.6:c.602_603del | ENSP00000378747.2:p.Lys201ThrfsTer? | |
| ENST00000399379.6:c.*382_*383del | ENSP00000399943.1:n.*382_*383del | |
| ENST00000427987.5:c.594_595del | ||
| ENST00000430521.1:c.434_435del | ENSP00000388068.1:p.Lys145ThrfsTer? | |
| ENST00000458307.6:c.470_471del | ENSP00000415619.2:p.Lys157ThrfsTer? | |
| ENST00000461210.1:n.784_785del | ||
| ENST00000465925.5:n.1792_1793del | ||
| ENST00000476127.5:n.361_362del | ||
| ENST00000476226.5:n.667_668del | ||
| ENST00000478594.5:n.1018_1019del | ||
| ENST00000487589.5:n.704_705del | ||
| ENST00000491800.2:n.52_53del | ||
| ENST00000495436.5:n.560_561del | ||
| ENST00000538581.5:c.434_435del | ENSP00000443200.1:p.Lys145ThrfsTer? | |
| NM_000481.3:c.602_603del , LRG_537t1:c.602_603del | NP_000472.2:p.Lys201ThrfsTer? | |
| NM_001164710.1:c.470_471del | NP_001158182.1:p.Lys157ThrfsTer? | |
| NM_001164711.1:c.434_435del | NP_001158183.1:p.Lys145ThrfsTer? | |
| NM_001164712.1:c.602_603del | NP_001158184.1:p.Lys201ThrfsTer? | |
| NR_028435.1:n.816_817del | ||
| NM_000481.4:c.602_603del MANE Select | NP_000472.2:p.Lys201ThrfsTer? | |
| NM_001164710.2:c.470_471del | NP_001158182.1:p.Lys157ThrfsTer? | |
| NM_001164711.2:c.434_435del | NP_001158183.1:p.Lys145ThrfsTer? | |
| NM_001164712.2:c.602_603del | NP_001158184.1:p.Lys201ThrfsTer? | |
| NR_028435.2:n.611_612del |