Canonical Allele Identifier: CA916083271

Gene: FZD4 PRSS23

Linked Data

• ClinVar Variation Id: 837237
• ClinVar RCV Id: RCV001038525
• dbSNP Id: rs1949299681
• gnomAD v4: 11-86952175-A-ACCCAGATGTACTGATCAGAATTGGTTCCCACAGAGTGACACTCTTCC

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.86952178_86952224dup , CM000673.2:g.86952178_86952224dup	GRCh38
NC_000011.9:g.86663220_86663266dup , CM000673.1:g.86663220_86663266dup	GRCh37
NC_000011.8:g.86340868_86340914dup	NCBI36
NG_011752.1:g.8170_8216dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000531380.2:c.534_580dup (FZD4) MANE Select	ENSP00000434034.1:p.Val194GlyfsTer17
ENST00000531380.1:c.534_580dup (FZD4)	ENSP00000434034.1:p.Val194GlyfsTer17
ENST00000532234.5:c.*1171_*1217dup (PRSS23)	ENSP00000436676.1:n.*1171_*1217dup
ENST00000533902.2:c.*893_*939dup (PRSS23)	ENSP00000437268.1:n.*893_*939dup
NM_012193.3:c.534_580dup (FZD4)	NP_036325.2:p.Val194GlyfsTer17
NR_120591.1:n.1843_1889dup (PRSS23)
NR_120592.1:n.1592_1638dup (PRSS23)
NR_120591.2:n.1541_1587dup (PRSS23)
NR_120592.2:n.1290_1336dup (PRSS23)
NM_012193.4:c.534_580dup (FZD4) MANE Select	NP_036325.2:p.Val194GlyfsTer17
NR_120591.3:n.1541_1587dup (PRSS23)