Canonical Allele Identifier: CA2587779534
Gene: PRSS57 HGNC NCBI

Linked Data

gnomAD v4: 19-694934-TC-T
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.694935del , CM000681.2:g.694935del GRCh38
NC_000019.9:g.694935del , CM000681.1:g.694935del GRCh37
NC_000019.8:g.645935del NCBI36
NG_051189.1:g.5597del

Transcript Alleles

HGVS Amino-acid Change
ENST00000329267.9:c.112del MANE Select ENSP00000327386.6:p.Glu38ArgfsTer2
ENST00000329267.8:c.112del ENSP00000327386.6:p.Glu38ArgfsTer2
ENST00000613411.4:c.115del ENSP00000482358.1:p.Glu39ArgfsTer2
NM_001308209.1:c.112del NP_001295138.1:p.Glu38ArgfsTer2
NM_214710.3:c.115del NP_999875.1:p.Glu39ArgfsTer2
NM_214710.4:c.115del NP_999875.1:p.Glu39ArgfsTer2
NM_001308209.2:c.112del MANE Select NP_001295138.2:p.Glu38ArgfsTer2
NM_214710.5:c.115del NP_999875.2:p.Glu39ArgfsTer2
Search 100 bp 5'
Search 100 bp 3'