gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.82720911 (EAS)
Genomes Max Group AF
0.82720911 (EAS)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.69648713del , CM000673.2:g.69648713del | GRCh38 |
| NC_000011.9:g.69463481del , CM000673.1:g.69463481del | GRCh37 |
| NC_000011.8:g.69172662del | NCBI36 |
| NG_007375.1:g.12609del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000227507.3:c.723+571del MANE Select | ENSP00000227507.2:n.723+571del | |
| ENST00000227507.2:c.723+571del | ENSP00000227507.2:n.723+571del | |
| ENST00000542367.1:n.186+571del | ||
| NM_053056.2:c.723+571del | NP_444284.1:n.723+571del | |
| XM_006718653.2:c.747+571del | XP_006718716.1:n.747+571del | |
| NM_053056.3:c.723+571del MANE Select | NP_444284.1:n.723+571del |