ClinVar Variation:
dbSNP:
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00016807 (NFE)
Genomes Max Group AF
0.00010259 (NFE)
Exomes Max Group AF
0.00016758 (NFE)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178653477del , CM000664.2:g.178653477del | GRCh38 |
| NC_000002.11:g.179518204del , CM000664.1:g.179518204del | GRCh37 |
| NC_000002.10:g.179226449del | NCBI36 |
| NG_011618.3:g.182329del , LRG_391:g.182329del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.31742-933del | ENSP00000343764.6:n.31742-933del | |
| ENST00000342175.11:c.13859-11157del | ENSP00000340554.6:n.13859-11157del | |
| ENST00000359218.10:c.13658-11157del | ENSP00000352154.5:n.13658-11157del | |
| ENST00000342175.10:c.13859-11157del | ENSP00000340554.6:n.13859-11157del | |
| ENST00000342992.10:c.31742-933del | ENSP00000343764.6:n.31742-933del | |
| ENST00000359218.9:c.13658-11157del | ENSP00000352154.5:n.13658-11157del | |
| ENST00000414766.5:c.2441-11157del | ENSP00000401501.1:n.2441-11157del | |
| ENST00000460472.6:c.13283-11157del | ENSP00000434586.1:n.13283-11157del | |
| ENST00000589042.5:c.38660del MANE Select | ENSP00000467141.1:p.Lys12887ArgfsTer? | |
| ENST00000591111.5:c.34523-933del | ENSP00000465570.1:n.34523-933del | |
| ENST00000615779.4:c.34523-933del | ENSP00000483597.1:n.34523-933del | |
| NM_001256850.1:c.34523-933del | NP_001243779.1:n.34523-933del | |
| NM_001267550.2:c.38660del MANE Select | NP_001254479.2:p.Lys12887ArgfsTer? | |
| NM_003319.4:c.13283-11157del | NP_003310.4:n.13283-11157del | |
| NM_133378.4:c.31742-933del | NP_596869.4:n.31742-933del | |
| NM_133432.3:c.13658-11157del | NP_597676.3:n.13658-11157del | |
| NM_133437.4:c.13859-11157del | NP_597681.4:n.13859-11157del | |
| XM_011511729.1:c.37757del | XP_011510031.1:p.Lys12586ArgfsTer? | |
| XM_011511730.1:c.13469-11157del | XP_011510032.1:n.13469-11157del | |
| XM_011511731.1:c.13328-11157del | XP_011510033.1:n.13328-11157del | |
| XM_017004819.1:c.37553del | XP_016860308.1:p.Lys12518ArgfsTer? | |
| XM_017004820.1:c.32951del | XP_016860309.1:p.Lys10984ArgfsTer? | |
| XM_017004821.1:c.32948del | XP_016860310.1:p.Lys10983ArgfsTer? | |
| XM_017004822.1:c.31859-11157del | XP_016860311.1:n.31859-11157del | |
| XM_017004823.1:c.13424-11157del | XP_016860312.1:n.13424-11157del | |
| XM_024453094.1:c.33568+971del | XP_024308862.1:n.33568+971del | |
| XM_024453095.1:c.33565+971del | XP_024308863.1:n.33565+971del | |
| XM_024453096.1:c.32998+971del | XP_024308864.1:n.32998+971del | |
| XM_024453097.1:c.31691-11157del | XP_024308865.1:n.31691-11157del | |
| XM_024453098.1:c.31610-11157del | XP_024308866.1:n.31610-11157del | |
| XM_024453099.1:c.13424-11157del | XP_024308867.1:n.13424-11157del | |
| XM_024453100.1:c.1409del | XP_024308868.1:p.Lys470ArgfsTer? |