Linked Data
ClinVar Variation Id:
2137212
ClinVar RCV Id:
RCV003062437
dbSNP Id:
rs80358290
gnomAD v4:
11-86951798-AC-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.86951800del , CM000673.2:g.86951800del | GRCh38 |
| NC_000011.9:g.86662842del , CM000673.1:g.86662842del | GRCh37 |
| NC_000011.8:g.86340490del | NCBI36 |
| NG_011752.1:g.8593del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000531380.2:c.957del (FZD4) MANE Select | ENSP00000434034.1:p.Trp319CysfsTer5 | |
| ENST00000531380.1:c.957del (FZD4) | ENSP00000434034.1:p.Trp319CysfsTer5 | |
| ENST00000532234.5:c.*793del (PRSS23) | ENSP00000436676.1:n.*793del | |
| ENST00000533902.2:c.*515del (PRSS23) | ENSP00000437268.1:n.*515del | |
| NM_012193.3:c.957del (FZD4) | NP_036325.2:p.Trp319CysfsTer5 | |
| NR_120591.1:n.1465del (PRSS23) | ||
| NR_120592.1:n.1214del (PRSS23) | ||
| NR_120591.2:n.1163del (PRSS23) | ||
| NR_120592.2:n.912del (PRSS23) | ||
| NM_012193.4:c.957del (FZD4) MANE Select | NP_036325.2:p.Trp319CysfsTer5 | |
| NR_120591.3:n.1163del (PRSS23) |