ClinVar RCV:
ClinVar Variation:
dbSNP:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00000689 (NFE)
Exomes Max Group AF
0.00000652 (NFE)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.70300155del , CM000668.2:g.70300155del | GRCh38 |
| NC_000006.11:g.71009858del , CM000668.1:g.71009858del | GRCh37 |
| NC_000006.10:g.71066579del | NCBI36 |
| NG_011654.1:g.7930del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000357250.11:c.188del MANE Select | ENSP00000349790.6:p.Phe63SerfsTer3 | |
| ENST00000357250.10:c.188del | ENSP00000349790.6:p.Phe63SerfsTer3 | |
| ENST00000370496.3:c.188del | ENSP00000359527.3:p.Phe63SerfsTer3 | |
| NM_001851.4:c.188del | NP_001842.3:p.Phe63SerfsTer3 | |
| XM_011535429.1:c.188del | XP_011533731.1:p.Phe63SerfsTer3 | |
| XM_011535429.3:c.188del | XP_011533731.1:p.Phe63SerfsTer3 | |
| NM_001377291.1:c.188del | NP_001364220.1:p.Phe63SerfsTer3 | |
| NM_001851.5:c.188del | NP_001842.3:p.Phe63SerfsTer3 | |
| NM_001851.6:c.188del MANE Select | NP_001842.3:p.Phe63SerfsTer3 |