Canonical Allele Identifier: CA2695215122

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.86952329_86952330del , CM000673.2:g.86952329_86952330del GRCh38
NC_000011.9:g.86663371_86663372del , CM000673.1:g.86663371_86663372del GRCh37
NC_000011.8:g.86341019_86341020del NCBI36
NG_011752.1:g.8063_8064del

Transcript Alleles

HGVS Amino-acid Change
ENST00000531380.2:c.427_428del (FZD4) MANE Select ENSP00000434034.1:p.Leu143GlufsTer21
ENST00000531380.1:c.427_428del (FZD4) ENSP00000434034.1:p.Leu143GlufsTer21
ENST00000532234.5:c.*1322_*1323del (PRSS23) ENSP00000436676.1:n.*1322_*1323del
ENST00000533902.2:c.*1044_*1045del (PRSS23) ENSP00000437268.1:n.*1044_*1045del
NM_012193.3:c.427_428del (FZD4) NP_036325.2:p.Leu143GlufsTer21
NR_120591.1:n.1994_1995del (PRSS23)
NR_120592.1:n.1743_1744del (PRSS23)
NR_120591.2:n.1692_1693del (PRSS23)
NR_120592.2:n.1441_1442del (PRSS23)
NM_012193.4:c.427_428del (FZD4) MANE Select NP_036325.2:p.Leu143GlufsTer21
NR_120591.3:n.1692_1693del (PRSS23)