Canonical Allele Identifier: CA2573147786

Linked Data

ClinVar Variation Id: 1396559
ClinVar RCV Id: RCV001903042
dbSNP Id: rs2135040415

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.86951552del , CM000673.2:g.86951552del GRCh38
NC_000011.9:g.86662594del , CM000673.1:g.86662594del GRCh37
NC_000011.8:g.86340242del NCBI36
NG_011752.1:g.8841del

Transcript Alleles

HGVS Amino-acid Change
ENST00000531380.2:c.1205del (FZD4) MANE Select ENSP00000434034.1:p.Gly402GlufsTer29
ENST00000531380.1:c.1205del (FZD4) ENSP00000434034.1:p.Gly402GlufsTer29
ENST00000531521.1:n.723del (PRSS23)
ENST00000532234.5:c.*545del (PRSS23) ENSP00000436676.1:n.*545del
ENST00000533902.2:c.*267del (PRSS23) ENSP00000437268.1:n.*267del
NM_012193.3:c.1205del (FZD4) NP_036325.2:p.Gly402GlufsTer29
NR_120591.1:n.1217del (PRSS23)
NR_120592.1:n.966del (PRSS23)
NR_120591.2:n.915del (PRSS23)
NR_120592.2:n.664del (PRSS23)
NM_012193.4:c.1205del (FZD4) MANE Select NP_036325.2:p.Gly402GlufsTer29
NR_120591.3:n.915del (PRSS23)