Canonical Allele Identifier: CA884128054
Gene: PRSS57 HGNC NCBI

Linked Data

dbSNP Id: rs1489209191
gnomAD v3: 19-695272-CG-C
gnomAD v4: 19-695272-CG-C

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.695275del , CM000681.2:g.695275del GRCh38
NC_000019.9:g.695275del , CM000681.1:g.695275del GRCh37
NC_000019.8:g.646275del NCBI36
NG_051189.1:g.5259del

Transcript Alleles

HGVS Amino-acid Change
ENST00000329267.9:c.79+79del MANE Select ENSP00000327386.6:n.79+79del
ENST00000329267.8:c.79+79del ENSP00000327386.6:n.79+79del
ENST00000613411.4:c.79+79del ENSP00000482358.1:n.79+79del
NM_001308209.1:c.79+79del NP_001295138.1:n.79+79del
NM_214710.3:c.79+79del NP_999875.1:n.79+79del
NM_214710.4:c.79+79del NP_999875.1:n.79+79del
NM_001308209.2:c.79+79del MANE Select NP_001295138.2:n.79+79del
NM_214710.5:c.79+79del NP_999875.2:n.79+79del