gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00019284 (AFR)
Genomes Max Group AF
0.00015008 (AFR)
Exomes Max Group AF
0.00017064 (AFR)
ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.177070del , CM000678.2:g.177070del | GRCh38 |
| NC_000016.9:g.227069del , CM000678.1:g.227069del | GRCh37 |
| NC_000016.8:g.167069del | NCBI36 |
| NG_000006.1:g.37933del | |
| NG_059186.1:g.5420del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000320868.9:c.237del MANE Select | ENSP00000322421.5:p.Asn79LysfsTer6 | |
| ENST00000397797.1:c.141del | ENSP00000380899.1:p.Asn47LysfsTer6 | |
| ENST00000472694.1:n.373del | ||
| ENST00000487791.1:n.206del | ||
| NM_000558.4:c.237del | NP_000549.1:p.Asn79LysfsTer6 | |
| NM_000558.5:c.237del MANE Select | NP_000549.1:p.Asn79LysfsTer6 |