Canonical Allele Identifier: CA225380647
Community Standard Title: NM_012193.4(FZD4):c.1286_1290del (p.Lys429ArgfsTer28)
Gene: FZD4 HGNC NCBI
PRSS23 HGNC NCBI
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.86951467_86951471del , CM000673.2:g.86951467_86951471del GRCh38
NC_000011.9:g.86662509_86662513del , CM000673.1:g.86662509_86662513del GRCh37
NC_000011.8:g.86340157_86340161del NCBI36
NG_011752.1:g.8922_8926del

Transcript Alleles

HGVS Amino-acid Change
NM_012193.4:c.1286_1290del (FZD4) MANE Select NP_036325.2:p.Lys429ArgfsTer28
ENST00000531380.2:c.1286_1290del (FZD4) MANE Select ENSP00000434034.1:p.Lys429ArgfsTer28
NM_012193.3:c.1286_1290del (FZD4) NP_036325.2:p.Lys429ArgfsTer28
NR_120591.1:n.1132_1136del (PRSS23)
NR_120591.2:n.830_834del (PRSS23)
NR_120591.3:n.830_834del (PRSS23)
NR_120592.1:n.881_885del (PRSS23)
NR_120592.2:n.579_583del (PRSS23)
ENST00000531380.1:c.1286_1290del (FZD4) ENSP00000434034.1:p.Lys429ArgfsTer28
ENST00000531521.1:n.638_642del (PRSS23)
ENST00000532234.5:c.*460_*464del (PRSS23) ENSP00000436676.1:n.*460_*464del
ENST00000533902.2:c.*182_*186del (PRSS23) ENSP00000437268.1:n.*182_*186del
Search 100 bp 5'
Search 100 bp 3'