gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00009564 (EAS)
Genomes Max Group AF
0.000005 (NFE)
Exomes Max Group AF
0.00012644 (EAS)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.18606612_18606634del , CM000681.2:g.18606612_18606634del | GRCh38 |
| NC_000019.9:g.18717422_18717444del , CM000681.1:g.18717422_18717444del | GRCh37 |
| NC_000019.8:g.18578422_18578444del | NCBI36 |
| NG_013370.1:g.5225_5247del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000684169.1:c.31_53del | ENSP00000506849.1:p.Gln11ValfsTer? | |
| ENST00000392386.8:c.31_53del MANE Select | ENSP00000376188.2:p.Gln11ValfsTer? | |
| ENST00000392386.7:c.31_53del | ENSP00000376188.2:p.Gln11ValfsTer? | |
| ENST00000593286.1:n.367+749_367+771del | ||
| NM_004750.4:c.31_53del | NP_004741.1:p.Gln11ValfsTer? | |
| XM_011528423.1:c.31_53del | XP_011526725.1:p.Gln11ValfsTer? | |
| XM_011528423.2:c.31_53del | XP_011526725.1:p.Gln11ValfsTer? | |
| NM_004750.5:c.31_53del MANE Select | NP_004741.1:p.Gln11ValfsTer? |