MyVariant.info:
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00039149 (NFE)
Genomes Max Group AF
0.00036751 (NFE)
Exomes Max Group AF
0.00038671 (NFE)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.114688746_114688749del , CM000663.2:g.114688746_114688749del | GRCh38 |
| NC_000001.10:g.115231367_115231370del , CM000663.1:g.115231367_115231370del | GRCh37 |
| NC_000001.9:g.115032890_115032893del | NCBI36 |
| NG_008012.1:g.11808_11811del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000369538.4:c.23-7_23-4del | ENSP00000358551.4:n.23-7_23-4del | |
| ENST00000520113.7:c.35-7_35-4del MANE Select | ENSP00000430075.3:n.35-7_35-4del | |
| ENST00000637080.1:c.38-7_38-4del | ENSP00000489753.1:n.38-7_38-4del | |
| ENST00000369538.3:c.122-7_122-4del | ENSP00000358551.3:n.122-7_122-4del | |
| ENST00000520113.6:c.134-7_134-4del | ENSP00000430075.2:n.134-7_134-4del | |
| NM_000036.2:c.134-7_134-4del | NP_000027.2:n.134-7_134-4del | |
| NM_001172626.1:c.122-7_122-4del | NP_001166097.1:n.122-7_122-4del | |
| NM_000036.3:c.35-7_35-4del MANE Select | NP_000027.3:n.35-7_35-4del | |
| NM_001172626.2:c.23-7_23-4del | NP_001166097.2:n.23-7_23-4del |