gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00001746 (AFR)
Genomes Max Group AF
0.000008 (AFR)
Exomes Max Group AF
0.00001663 (NFE)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.86951476_86951479del , CM000673.2:g.86951476_86951479del | GRCh38 |
| NC_000011.9:g.86662518_86662521del , CM000673.1:g.86662518_86662521del | GRCh37 |
| NC_000011.8:g.86340166_86340169del | NCBI36 |
| NG_011752.1:g.8918_8921del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000531380.2:c.1282_1285del (FZD4) MANE Select | ENSP00000434034.1:p.Asp428SerfsTer2 | |
| ENST00000531380.1:c.1282_1285del (FZD4) | ENSP00000434034.1:p.Asp428SerfsTer2 | |
| ENST00000531521.1:n.647_650del (PRSS23) | ||
| ENST00000532234.5:c.*469_*472del (PRSS23) | ENSP00000436676.1:n.*469_*472del | |
| ENST00000533902.2:c.*191_*194del (PRSS23) | ENSP00000437268.1:n.*191_*194del | |
| NM_012193.3:c.1282_1285del (FZD4) | NP_036325.2:p.Asp428SerfsTer2 | |
| NR_120591.1:n.1141_1144del (PRSS23) | ||
| NR_120592.1:n.890_893del (PRSS23) | ||
| NR_120591.2:n.839_842del (PRSS23) | ||
| NR_120592.2:n.588_591del (PRSS23) | ||
| NM_012193.4:c.1282_1285del (FZD4) MANE Select | NP_036325.2:p.Asp428SerfsTer2 | |
| NR_120591.3:n.839_842del (PRSS23) |