ClinVar RCV:
ClinVar Variation:
dbSNP:
gnomAD v2:
gnomAD v4:
Joint Max Group AF
0.00000365 (SAS)
Exomes Max Group AF
0.00000385 (SAS)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.173232696_173232698dup , CM000667.2:g.173232696_173232698dup | GRCh38 |
| NC_000005.9:g.172659699_172659701dup , CM000667.1:g.172659699_172659701dup | GRCh37 |
| NC_000005.8:g.172592305_172592307dup | NCBI36 |
| NG_013340.1:g.7616_7618dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000329198.5:c.847_849dup MANE Select | ENSP00000327758.4:p.Pro283_Ala284insPro | |
| ENST00000329198.4:c.847_849dup | ENSP00000327758.4:p.Pro283_Ala284insPro | |
| NM_001166175.1:c.*800_*802dup | NP_001159647.1:n.*800_*802dup | |
| NM_001166176.1:c.*646_*648dup | NP_001159648.1:n.*646_*648dup | |
| NM_004387.3:c.847_849dup | NP_004378.1:p.Pro283_Ala284insPro | |
| NM_004387.4:c.847_849dup MANE Select | NP_004378.1:p.Pro283_Ala284insPro | |
| NM_001166175.2:c.*800_*802dup | NP_001159647.1:n.*800_*802dup | |
| NM_001166176.2:c.*646_*648dup | NP_001159648.1:n.*646_*648dup |