gnomAD v4:
Joint Max Group AF
0.00000247 (NFE)
Exomes Max Group AF
0.00000262 (NFE)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.92517683_92517686del , CM000669.2:g.92517683_92517686del | GRCh38 |
| NC_000007.13:g.92146997_92147000del , CM000669.1:g.92146997_92147000del | GRCh37 |
| NC_000007.12:g.91984933_91984936del | NCBI36 |
| NG_008341.1:g.15848_15851del | |
| NG_008341.2:g.15848_15851del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000248633.9:c.831_834del MANE Select | ENSP00000248633.4:p.Ser278ArgfsTer5 | |
| ENST00000248633.8:c.831_834del | ENSP00000248633.4:p.Ser278ArgfsTer5 | |
| ENST00000428214.5:c.831_834del | ENSP00000394413.1:p.Ser278ArgfsTer5 | |
| ENST00000438045.5:c.274-3717_274-3714del | ENSP00000410438.1:n.274-3717_274-3714del | |
| ENST00000484913.5:n.870_873del | ||
| NM_000466.2:c.831_834del | NP_000457.1:p.Ser278ArgfsTer5 | |
| NM_001282677.1:c.831_834del | NP_001269606.1:p.Ser278ArgfsTer5 | |
| NM_001282678.1:c.207_210del | NP_001269607.1:p.Ser70ArgfsTer5 | |
| XR_242246.3:n.927_930del | ||
| XR_242246.5:n.878_881del | ||
| NM_000466.3:c.831_834del MANE Select | NP_000457.1:p.Ser278ArgfsTer5 | |
| NM_001282677.2:c.831_834del | NP_001269606.1:p.Ser278ArgfsTer5 | |
| NM_001282678.2:c.207_210del | NP_001269607.1:p.Ser70ArgfsTer5 |