Canonical Allele Identifier: CA2499221353

Gene: FZD4 PRSS23

Linked Data

• ClinVar Variation Id: 1076601
• ClinVar RCV Id: RCV001390550
• dbSNP Id: rs2135039721

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.86951228_86951246del , CM000673.2:g.86951228_86951246del	GRCh38
NC_000011.9:g.86662270_86662288del , CM000673.1:g.86662270_86662288del	GRCh37
NC_000011.8:g.86339918_86339936del	NCBI36
NG_011752.1:g.9146_9164del

Transcript Alleles

HGVS	Amino-acid change
ENST00000531380.2:c.1510_1528del (FZD4) MANE Select	ENSP00000434034.1:p.Trp504AspfsTer3
ENST00000528769.5:n.285_303del (PRSS23)
ENST00000531380.1:c.1510_1528del (FZD4)	ENSP00000434034.1:p.Trp504AspfsTer3
ENST00000531521.1:n.399_417del (PRSS23)
ENST00000532234.5:c.*221_*239del (PRSS23)	ENSP00000436676.1:n.*221_*239del
ENST00000533902.2:c.219_237del (PRSS23)	ENSP00000437268.1:p.Gly75Ter
NM_012193.3:c.1510_1528del (FZD4)	NP_036325.2:p.Trp504AspfsTer3
NR_120591.1:n.893_911del (PRSS23)
NR_120592.1:n.642_660del (PRSS23)
NR_120591.2:n.591_609del (PRSS23)
NR_120592.2:n.340_358del (PRSS23)
NM_012193.4:c.1510_1528del (FZD4) MANE Select	NP_036325.2:p.Trp504AspfsTer3
NR_120591.3:n.591_609del (PRSS23)