gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.82191566 (EAS)
Genomes Max Group AF
0.84732326 (EAS)
Exomes Max Group AF
0.81523528 (EAS)
ClinVar Allele:
ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.29489587_29489604dup , CM000684.2:g.29489587_29489604dup | GRCh38 |
| NC_000022.10:g.29885576_29885593dup , CM000684.1:g.29885576_29885593dup | GRCh37 |
| NC_000022.9:g.28215576_28215593dup | NCBI36 |
| NG_008404.1:g.14396_14413dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000310624.7:c.1947_1964dup MANE Select | ENSP00000311997.6:p.Pro655_Glu656insGluLysAlaLysSerPro | |
| ENST00000310624.6:c.1947_1964dup | ENSP00000311997.6:p.Pro655_Glu656insGluLysAlaLysSerPro | |
| NM_021076.3:c.1947_1964dup | NP_066554.2:p.Pro655_Glu656insGluLysAlaLysSerPro | |
| XM_011530200.1:c.1659_1676dup | ||
| XM_011530200.2:c.1659_1676dup | ||
| NM_021076.4:c.1947_1964dup MANE Select | NP_066554.2:p.Pro655_Glu656insGluLysAlaLysSerPro |