gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00077047 (EAS)
Exomes Max Group AF
0.00084821 (EAS)
ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.89191311dup , CM000673.2:g.89191311dup | GRCh38 |
| NC_000011.9:g.88924479dup , CM000673.1:g.88924479dup | GRCh37 |
| NC_000011.8:g.88564127dup | NCBI36 |
| NG_008748.1:g.18440dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000263321.6:c.929dup MANE Select | ENSP00000263321.4:p.Arg311LysfsTer7 | |
| ENST00000263321.5:c.929dup | ENSP00000263321.4:p.Arg311LysfsTer7 | |
| ENST00000526139.1:n.990dup | ||
| NM_000372.4:c.929dup | NP_000363.1:p.Arg311LysfsTer7 | |
| XM_011542970.1:c.929dup | XP_011541272.1:p.Arg311LysfsTer7 | |
| XM_011542970.2:c.929dup | XP_011541272.1:p.Arg311LysfsTer7 | |
| XR_001748321.1:n.2718-77775dup | ||
| XR_001748322.1:n.2733-77775dup | ||
| NM_000372.5:c.929dup MANE Select | NP_000363.1:p.Arg311LysfsTer7 |