Canonical Allele Identifier: CA916083270

Linked Data

ClinVar Variation Id: 837885
ClinVar RCV Id: RCV001039319
dbSNP Id: rs1949288383

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.86951251_86951252del , CM000673.2:g.86951251_86951252del GRCh38
NC_000011.9:g.86662293_86662294del , CM000673.1:g.86662293_86662294del GRCh37
NC_000011.8:g.86339941_86339942del NCBI36
NG_011752.1:g.9143_9144del

Transcript Alleles

HGVS Amino-acid change
ENST00000531380.2:c.1507_1508del (FZD4) MANE Select ENSP00000434034.1:p.Thr503ValfsTer?
ENST00000528769.5:n.308_309del (PRSS23)
ENST00000531380.1:c.1507_1508del (FZD4) ENSP00000434034.1:p.Thr503ValfsTer?
ENST00000531521.1:n.422_423del (PRSS23)
ENST00000532234.5:c.*244_*245del (PRSS23) ENSP00000436676.1:n.*244_*245del
ENST00000533902.2:c.242_243del (PRSS23) ENSP00000437268.1:p.Val81GlufsTer13
NM_012193.3:c.1507_1508del (FZD4) NP_036325.2:p.Thr503ValfsTer?
NR_120591.1:n.916_917del (PRSS23)
NR_120592.1:n.665_666del (PRSS23)
NR_120591.2:n.614_615del (PRSS23)
NR_120592.2:n.363_364del (PRSS23)
NM_012193.4:c.1507_1508del (FZD4) MANE Select NP_036325.2:p.Thr503ValfsTer?
NR_120591.3:n.614_615del (PRSS23)