gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00004539 (NFE)
Genomes Max Group AF
0.00000488 (NFE)
Exomes Max Group AF
0.00004703 (NFE)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.73641709del , CM000668.2:g.73641709del | GRCh38 |
| NC_000006.11:g.74351432del , CM000668.1:g.74351432del | GRCh37 |
| NC_000006.10:g.74408153del | NCBI36 |
| NG_008272.1:g.17306del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000355773.6:c.507del MANE Select | ENSP00000348019.5:p.Leu170Ter | |
| ENST00000355773.5:c.507del | ENSP00000348019.5:p.Leu170Ter | |
| ENST00000481996.1:n.273del | ||
| NM_012434.4:c.507del | NP_036566.1:p.Leu170Ter | |
| XM_005248710.2:c.456del | XP_005248767.1:p.Leu153Ter | |
| XM_005248711.1:c.309del | XP_005248768.1:p.Leu104Ter | |
| XM_011535750.1:c.507del | XP_011534052.1:p.Leu170Ter | |
| XM_011535751.1:c.507del | XP_011534053.1:p.Leu170Ter | |
| NM_012434.5:c.507del MANE Select | NP_036566.1:p.Leu170Ter | |
| NM_001382629.1:c.276del | NP_001369558.1:p.Leu93Ter | |
| NM_001382630.1:c.507del | NP_001369559.1:p.Leu170Ter | |
| NM_001382631.1:c.528del | NP_001369560.1:p.Leu177Ter | |
| NM_001382632.1:c.507del | NP_001369561.1:p.Leu170Ter | |
| NM_001382633.1:c.507del | NP_001369562.1:p.Leu170Ter | |
| NM_001382634.1:c.507del | NP_001369563.1:p.Leu170Ter | |
| NM_001382635.1:c.507del | NP_001369564.1:p.Leu170Ter | |
| NM_001382636.1:c.276del | NP_001369565.1:p.Leu93Ter |