Canonical Allele Identifier: CA2697548857

Linked Data

ClinVar Variation Id: 2760685
ClinVar RCV Id: RCV003572255

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.86951260_86951261del , CM000673.2:g.86951260_86951261del GRCh38
NC_000011.9:g.86662302_86662303del , CM000673.1:g.86662302_86662303del GRCh37
NC_000011.8:g.86339950_86339951del NCBI36
NG_011752.1:g.9133_9134del

Transcript Alleles

HGVS Amino-acid change
ENST00000531380.2:c.1497_1498del (FZD4) MANE Select ENSP00000434034.1:p.Lys499AsnfsTer?
ENST00000528769.5:n.317_318del (PRSS23)
ENST00000531380.1:c.1497_1498del (FZD4) ENSP00000434034.1:p.Lys499AsnfsTer?
ENST00000531521.1:n.431_432del (PRSS23)
ENST00000532234.5:c.*253_*254del (PRSS23) ENSP00000436676.1:n.*253_*254del
ENST00000533902.2:c.251_252del (PRSS23) ENSP00000437268.1:p.Phe84TrpfsTer10
NM_012193.3:c.1497_1498del (FZD4) NP_036325.2:p.Lys499AsnfsTer?
NR_120591.1:n.925_926del (PRSS23)
NR_120592.1:n.674_675del (PRSS23)
NR_120591.2:n.623_624del (PRSS23)
NR_120592.2:n.372_373del (PRSS23)
NM_012193.4:c.1497_1498del (FZD4) MANE Select NP_036325.2:p.Lys499AsnfsTer?
NR_120591.3:n.623_624del (PRSS23)