Canonical Allele Identifier: CA6218468

Gene: FZD4 PRSS23

Linked Data

• dbSNP Id: rs764395748
• ExAC: 11:86663434 GAC / G
• gnomAD v2: 11-86663434-GAC-G
• gnomAD v4: 11-86952392-GAC-G
• MyVariant Identifiers: chr11:g.86663435_86663436del (hg19) ; chr11:g.86952393_86952394del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.86952396_86952397del , CM000673.2:g.86952396_86952397del	GRCh38
NC_000011.9:g.86663438_86663439del , CM000673.1:g.86663438_86663439del	GRCh37
NC_000011.8:g.86341086_86341087del	NCBI36
NG_011752.1:g.7998_7999del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000531380.2:c.362_363del (FZD4) MANE Select	ENSP00000434034.1:p.Cys121SerfsTer8
ENST00000531380.1:c.362_363del (FZD4)	ENSP00000434034.1:p.Cys121SerfsTer8
ENST00000532234.5:c.*1389_*1390del (PRSS23)	ENSP00000436676.1:n.*1389_*1390del
ENST00000533902.2:c.*1111_*1112del (PRSS23)	ENSP00000437268.1:n.*1111_*1112del
NM_012193.3:c.362_363del (FZD4)	NP_036325.2:p.Cys121SerfsTer8
NR_120591.1:n.2061_2062del (PRSS23)
NR_120592.1:n.1810_1811del (PRSS23)
NR_120591.2:n.1759_1760del (PRSS23)
NR_120592.2:n.1508_1509del (PRSS23)
NM_012193.4:c.362_363del (FZD4) MANE Select	NP_036325.2:p.Cys121SerfsTer8
NR_120591.3:n.1759_1760del (PRSS23)