gnomAD v4:
Joint Max Group AF
0.00000585 (NFE)
Exomes Max Group AF
0.00000816 (NFE)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.114677782_114677785del , CM000663.2:g.114677782_114677785del | GRCh38 |
| NC_000001.10:g.115220403_115220406del , CM000663.1:g.115220403_115220406del | GRCh37 |
| NC_000001.9:g.115021926_115021929del | NCBI36 |
| NG_008012.1:g.22780_22783del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000369538.4:c.1212+134_1212+137del | ENSP00000358551.4:n.1212+134_1212+137del | |
| ENST00000520113.7:c.1224+134_1224+137del MANE Select | ENSP00000430075.3:n.1224+134_1224+137del | |
| ENST00000637080.1:c.1007+134_1007+137del | ENSP00000489753.1:n.1007+134_1007+137del | |
| ENST00000639077.1:n.889+134_889+137del | ||
| ENST00000369538.3:c.1311+134_1311+137del | ENSP00000358551.3:n.1311+134_1311+137del | |
| ENST00000520113.6:c.1323+134_1323+137del | ENSP00000430075.2:n.1323+134_1323+137del | |
| NM_000036.2:c.1323+134_1323+137del | NP_000027.2:n.1323+134_1323+137del | |
| NM_001172626.1:c.1311+134_1311+137del | NP_001166097.1:n.1311+134_1311+137del | |
| NM_000036.3:c.1224+134_1224+137del MANE Select | NP_000027.3:n.1224+134_1224+137del | |
| NM_001172626.2:c.1212+134_1212+137del | NP_001166097.2:n.1212+134_1212+137del |