dbSNP:
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00001183 (NFE)
Exomes Max Group AF
0.0000119 (NFE)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.114677793_114677799del , CM000663.2:g.114677793_114677799del | GRCh38 |
| NC_000001.10:g.115220414_115220420del , CM000663.1:g.115220414_115220420del | GRCh37 |
| NC_000001.9:g.115021937_115021943del | NCBI36 |
| NG_008012.1:g.22757_22763del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000369538.4:c.1212+111_1212+117del | ENSP00000358551.4:n.1212+111_1212+117del | |
| ENST00000520113.7:c.1224+111_1224+117del MANE Select | ENSP00000430075.3:n.1224+111_1224+117del | |
| ENST00000637080.1:c.1007+111_1007+117del | ENSP00000489753.1:n.1007+111_1007+117del | |
| ENST00000639077.1:n.889+111_889+117del | ||
| ENST00000369538.3:c.1311+111_1311+117del | ENSP00000358551.3:n.1311+111_1311+117del | |
| ENST00000520113.6:c.1323+111_1323+117del | ENSP00000430075.2:n.1323+111_1323+117del | |
| NM_000036.2:c.1323+111_1323+117del | NP_000027.2:n.1323+111_1323+117del | |
| NM_001172626.1:c.1311+111_1311+117del | NP_001166097.1:n.1311+111_1311+117del | |
| NM_000036.3:c.1224+111_1224+117del MANE Select | NP_000027.3:n.1224+111_1224+117del | |
| NM_001172626.2:c.1212+111_1212+117del | NP_001166097.2:n.1212+111_1212+117del |