Canonical Allele Identifier: CA253498
Gene: FZD4 HGNC NCBI
PRSS23 HGNC NCBI

Linked Data

ClinVar Variation Id: 5484
ClinVar RCV Id: RCV000005818 RCV000478323
dbSNP Id: rs80358301
MyVariant Identifiers: chr11:g.86662314_86662319del (hg19) chr11:g.86951272_86951277del (hg38)
PubMed: PMID:12172548
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.86951274_86951279del , CM000673.2:g.86951274_86951279del GRCh38
NC_000011.9:g.86662316_86662321del , CM000673.1:g.86662316_86662321del GRCh37
NC_000011.8:g.86339964_86339969del NCBI36
NG_011752.1:g.9115_9120del

Transcript Alleles

HGVS Amino-acid change
ENST00000531380.2:c.1479_1484del (FZD4) MANE Select ENSP00000434034.1:p.Met493_Trp494del
ENST00000528769.5:n.331_336del (PRSS23)
ENST00000531380.1:c.1479_1484del (FZD4) ENSP00000434034.1:p.Met493_Trp494del
ENST00000531521.1:n.445_450del (PRSS23)
ENST00000532234.5:c.*267_*272del (PRSS23) ENSP00000436676.1:n.*267_*272del
ENST00000533902.2:c.265_270del (PRSS23) ENSP00000437268.1:p.Pro89_His90del
NM_012193.3:c.1479_1484del (FZD4) NP_036325.2:p.Met493_Trp494del
NR_120591.1:n.939_944del (PRSS23)
NR_120592.1:n.688_693del (PRSS23)
NR_120591.2:n.637_642del (PRSS23)
NR_120592.2:n.386_391del (PRSS23)
NM_012193.4:c.1479_1484del (FZD4) MANE Select NP_036325.2:p.Met493_Trp494del
NR_120591.3:n.637_642del (PRSS23)
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