Canonical Allele Identifier: CA6218298

Gene: FZD4 PRSS23

Linked Data

• ClinVar Variation Id: 1009664
• ClinVar RCV Id: RCV001307183
• dbSNP Id: rs772131787
• ExAC: 11:86662235 CTT / C
• gnomAD v2: 11-86662235-CTT-C
• gnomAD v3: 11-86951193-CTT-C
• gnomAD v4: 11-86951193-CTT-C
• MyVariant Identifiers: chr11:g.86662236_86662237del (hg19) ; chr11:g.86951194_86951195del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.86951194_86951195del , CM000673.2:g.86951194_86951195del	GRCh38
NC_000011.9:g.86662236_86662237del , CM000673.1:g.86662236_86662237del	GRCh37
NC_000011.8:g.86339884_86339885del	NCBI36
NG_011752.1:g.9197_9198del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000531380.2:c.1561_1562del (FZD4) MANE Select	ENSP00000434034.1:p.Lys521GlufsTer13
ENST00000528769.5:n.273-22_273-21del (PRSS23)
ENST00000531380.1:c.1561_1562del (FZD4)	ENSP00000434034.1:p.Lys521GlufsTer13
ENST00000531521.1:n.387-22_387-21del (PRSS23)
ENST00000532234.5:c.*209-22_*209-21del (PRSS23)	ENSP00000436676.1:n.*209-22_*209-21del
ENST00000533902.2:c.207-22_207-21del (PRSS23)	ENSP00000437268.1:n.207-22_207-21del
NM_012193.3:c.1561_1562del (FZD4)	NP_036325.2:p.Lys521GlufsTer13
NR_120591.1:n.881-22_881-21del (PRSS23)
NR_120592.1:n.630-22_630-21del (PRSS23)
NR_120591.2:n.579-22_579-21del (PRSS23)
NR_120592.2:n.328-22_328-21del (PRSS23)
NM_012193.4:c.1561_1562del (FZD4) MANE Select	NP_036325.2:p.Lys521GlufsTer13
NR_120591.3:n.579-22_579-21del (PRSS23)