gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00015356 (AMR)
Genomes Max Group AF
0.00021494 (AMR)
Exomes Max Group AF
0.00010646 (NFE)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.42410982_42410983insTC , CM000677.2:g.42410982_42410983insTC | GRCh38 |
| NC_000015.9:g.42703180_42703181insTC , CM000677.1:g.42703180_42703181insTC | GRCh37 |
| NC_000015.8:g.40490472_40490473insTC | NCBI36 |
| NG_008660.1:g.67880_67881insTC |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000337571.9:c.367_368insTC | ENSP00000336840.4:p.Arg123IlefsTer? | |
| ENST00000349748.8:c.2086_2087insTC | ENSP00000183936.4:p.Arg696IlefsTer? | |
| ENST00000357568.8:c.2344_2345insTC | ENSP00000350181.3:p.Arg782IlefsTer? | |
| ENST00000397163.8:c.2362_2363insTC MANE Select | ENSP00000380349.3:p.Arg788IlefsTer? | |
| ENST00000397204.9:c.367_368insTC | ENSP00000380387.4:p.Arg123IlefsTer? | |
| ENST00000466222.7:n.751+56_751+57insTC | ||
| ENST00000466369.5:n.2853_2854insTC | ||
| ENST00000495723.1:n.3233_3234insTC | ||
| ENST00000549793.5:n.2575_2576insTC | ||
| ENST00000562199.2:c.366_367insTC | ENSP00000501034.1:n.366_367insTC | |
| ENST00000567817.6:c.151_152insTC | ENSP00000456514.2:p.Arg51IlefsTer? | |
| ENST00000568153.2:c.228_229insTC | ||
| ENST00000569136.6:c.367_368insTC | ENSP00000455254.1:p.Arg123IlefsTer? | |
| ENST00000638141.2:n.2101_2102insTC | ||
| ENST00000673646.1:c.926_927insTC | ENSP00000501007.1:n.926_927insTC | |
| ENST00000673684.1:n.344_345insTC | ||
| ENST00000673692.1:c.367_368insTC | ENSP00000501138.1:p.Arg123IlefsTer? | |
| ENST00000673705.1:c.905_906insTC | ENSP00000501021.1:n.905_906insTC | |
| ENST00000673743.1:c.265_266insTC | ENSP00000500989.1:p.Arg89IlefsTer? | |
| ENST00000673750.1:c.367_368insTC | ENSP00000501173.1:p.Arg123IlefsTer? | |
| ENST00000673771.1:c.367_368insTC | ENSP00000501023.1:p.Arg123IlefsTer? | |
| ENST00000673774.1:n.1495_1496insTC | ||
| ENST00000673839.1:c.367_368insTC | ENSP00000501188.1:p.Arg123IlefsTer? | |
| ENST00000673851.1:c.367_368insTC | ENSP00000501142.1:p.Arg123IlefsTer? | |
| ENST00000673854.1:n.5784_5785insTC | ||
| ENST00000673886.1:c.367_368insTC | ENSP00000501155.1:p.Arg123IlefsTer? | |
| ENST00000673890.1:c.367_368insTC | ENSP00000501293.1:p.Arg123IlefsTer? | |
| ENST00000673928.1:c.367_368insTC | ENSP00000501099.1:p.Arg123IlefsTer? | |
| ENST00000673936.1:c.367_368insTC | ENSP00000501189.1:p.Arg123IlefsTer? | |
| ENST00000673939.1:c.*100+56_*100+57insTC | ENSP00000501129.1:n.*100+56_*100+57insTC | |
| ENST00000673950.1:n.636_637insTC | ||
| ENST00000673978.1:c.505_506insTC | ENSP00000500976.1:p.Arg169IlefsTer? | |
| ENST00000673987.1:c.*100+56_*100+57insTC | ENSP00000501231.1:n.*100+56_*100+57insTC | |
| ENST00000674011.1:c.*156_*157insTC | ENSP00000501171.1:n.*156_*157insTC | |
| ENST00000674018.1:c.367_368insTC | ENSP00000501271.1:p.Arg123IlefsTer? | |
| ENST00000674027.1:n.513_514insTC | ||
| ENST00000674041.1:c.367_368insTC | ENSP00000500956.1:p.Arg123IlefsTer28 | |
| ENST00000674052.1:c.586_587insTC | ENSP00000501057.1:p.Arg196IlefsTer? | |
| ENST00000674093.1:c.367_368insTC | ENSP00000501303.1:p.Arg123IlefsTer? | |
| ENST00000674119.1:c.367_368insTC | ENSP00000501217.1:p.Arg123IlefsTer? | |
| ENST00000674135.1:c.544_545insTC | ENSP00000501178.1:p.Arg182IlefsTer? | |
| ENST00000674139.1:c.367_368insTC | ENSP00000501054.1:p.Arg123IlefsTer? | |
| ENST00000674146.1:c.367_368insTC | ENSP00000501175.1:p.Arg123IlefsTer? | |
| ENST00000674149.1:c.367_368insTC | ENSP00000501112.1:p.Arg123IlefsTer? | |
| ENST00000318023.11:c.2218_2219insTC | ENSP00000326281.8:p.Arg740IlefsTer? | |
| ENST00000337571.8:c.367_368insTC | ENSP00000336840.4:p.Arg123IlefsTer? | |
| ENST00000349748.7:c.2086_2087insTC | ENSP00000183936.4:p.Arg696IlefsTer? | |
| ENST00000356316.7:c.367_368insTC | ENSP00000348667.4:p.Arg123IlefsTer? | |
| ENST00000357568.7:c.2344_2345insTC | ENSP00000350181.3:p.Arg782IlefsTer? | |
| ENST00000397163.7:c.2362_2363insTC | ENSP00000380349.3:p.Arg788IlefsTer? | |
| ENST00000397200.8:c.826_827insTC | ENSP00000380384.4:p.Arg276IlefsTer? | |
| ENST00000397204.8:c.367_368insTC | ENSP00000380387.4:p.Arg123IlefsTer? | |
| ENST00000466222.6:n.1285_1286insTC | ||
| ENST00000561817.5:c.367_368insTC | ENSP00000456575.1:p.Arg123IlefsTer? | |
| ENST00000562199.1:n.366_367insTC | ||
| ENST00000564503.5:c.405_406insTC | ||
| ENST00000565274.5:c.540_541insTC | ENSP00000457759.1:n.540_541insTC | |
| ENST00000567817.5:c.178_179insTC | ENSP00000456514.1:p.Arg60IlefsTer? | |
| ENST00000568153.1:c.99_100insTC | ||
| ENST00000569136.5:c.367_368insTC | ENSP00000455254.1:p.Arg123IlefsTer? | |
| ENST00000569827.5:c.694_695insTC | ENSP00000454379.1:p.Arg232IlefsTer? | |
| NM_000070.2:c.2362_2363insTC | NP_000061.1:p.Arg788IlefsTer? | |
| NM_024344.1:c.2344_2345insTC | NP_077320.1:p.Arg782IlefsTer? | |
| NM_173087.1:c.2086_2087insTC | NP_775110.1:p.Arg696IlefsTer? | |
| NM_173088.1:c.826_827insTC | NP_775111.1:p.Arg276IlefsTer? | |
| NM_173089.1:c.367_368insTC | NP_775112.1:p.Arg123IlefsTer? | |
| NM_173090.1:c.367_368insTC | NP_775113.1:p.Arg123IlefsTer? | |
| NM_000070.3:c.2362_2363insTC MANE Select | NP_000061.1:p.Arg788IlefsTer? | |
| NM_024344.2:c.2344_2345insTC | NP_077320.1:p.Arg782IlefsTer? | |
| NM_173087.2:c.2086_2087insTC | NP_775110.1:p.Arg696IlefsTer? | |
| NM_173088.2:c.826_827insTC | NP_775111.1:p.Arg276IlefsTer? | |
| NM_173089.2:c.367_368insTC | NP_775112.1:p.Arg123IlefsTer? | |
| NM_173090.2:c.367_368insTC | NP_775113.1:p.Arg123IlefsTer? |