Canonical Allele Identifier: CA2615455842
Gene: FZD4 HGNC NCBI
PRSS23 HGNC NCBI

Linked Data

gnomAD v4: 11-86952233-TG-T
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.86952238del , CM000673.2:g.86952238del GRCh38
NC_000011.9:g.86663280del , CM000673.1:g.86663280del GRCh37
NC_000011.8:g.86340928del NCBI36
NG_011752.1:g.8158del

Transcript Alleles

HGVS Amino-acid Change
ENST00000531380.2:c.522del (FZD4) MANE Select ENSP00000434034.1:p.Ile175SerfsTer20
ENST00000531380.1:c.522del (FZD4) ENSP00000434034.1:p.Ile175SerfsTer20
ENST00000532234.5:c.*1231del (PRSS23) ENSP00000436676.1:n.*1231del
ENST00000533902.2:c.*953del (PRSS23) ENSP00000437268.1:n.*953del
NM_012193.3:c.522del (FZD4) NP_036325.2:p.Ile175SerfsTer20
NR_120591.1:n.1903del (PRSS23)
NR_120592.1:n.1652del (PRSS23)
NR_120591.2:n.1601del (PRSS23)
NR_120592.2:n.1350del (PRSS23)
NM_012193.4:c.522del (FZD4) MANE Select NP_036325.2:p.Ile175SerfsTer20
NR_120591.3:n.1601del (PRSS23)
Search 100 bp 5'
Search 100 bp 3'