Allele Registry

WARNING - Protein Allele ID and Protein Sequence HGVS API Requests Temporarily Disabled:
We are investigating the periodic unresponsiveness in the Registry.
Although replication attempts were unsuccessful, there is a high correlation with protein alleles. And with haplotype HGVS queries.
This temporarily affects the API and the UI.

ClinGen Allele Registry

Canonical Allele Identifier: CA10588537

Gene: FZD4 HGNC NCBI
PRSS23 HGNC NCBI

Linked Data

ClinVar Variation Id: 265159

ClinVar RCV Id: RCV000254871

dbSNP Id: rs886039372

MyVariant Identifiers: chr11:g.86663510del (hg19) chr11:g.86952468del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.86952468del , CM000673.2:g.86952468del	GRCh38
NC_000011.9:g.86663510del , CM000673.1:g.86663510del	GRCh37
NC_000011.8:g.86341158del	NCBI36
NG_011752.1:g.7924del

Transcript Alleles

HGVS	Amino-acid change
ENST00000531380.2:c.288del (FZD4) MANE Select	ENSP00000434034.1:p.Phe97SerfsTer?
ENST00000531380.1:c.288del (FZD4)	ENSP00000434034.1:p.Phe97SerfsTer?
ENST00000532234.5:c.*1461del (PRSS23)	ENSP00000436676.1:n.*1461del
ENST00000533902.2:c.*1183del (PRSS23)	ENSP00000437268.1:n.*1183del
NM_012193.3:c.288del (FZD4)	NP_036325.2:p.Phe97SerfsTer?
NR_120591.1:n.2133del (PRSS23)
NR_120592.1:n.1882del (PRSS23)
NR_120591.2:n.1831del (PRSS23)
NR_120592.2:n.1580del (PRSS23)
NM_012193.4:c.288del (FZD4) MANE Select	NP_036325.2:p.Phe97SerfsTer?
NR_120591.3:n.1831del (PRSS23)