Canonical Allele Identifier: CA9022250
Gene: PRSS57 HGNC NCBI

Linked Data

dbSNP Id: rs751484699
ExAC: 19:694814 CT / C
gnomAD v2: 19-694814-CT-C
gnomAD v3: 19-694814-CT-C
gnomAD v4: 19-694814-CT-C
MyVariant Identifiers: chr19:g.694815del (hg19) chr19:g.694815del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.694815del , CM000681.2:g.694815del GRCh38
NC_000019.9:g.694815del , CM000681.1:g.694815del GRCh37
NC_000019.8:g.645815del NCBI36
NG_051189.1:g.5717del

Transcript Alleles

HGVS Amino-acid Change
ENST00000329267.9:c.232del MANE Select ENSP00000327386.6:p.Arg78GlufsTer15
ENST00000329267.8:c.232del ENSP00000327386.6:p.Arg78GlufsTer15
ENST00000613411.4:c.235del ENSP00000482358.1:p.Arg79GlufsTer15
NM_001308209.1:c.232del NP_001295138.1:p.Arg78GlufsTer15
NM_214710.3:c.235del NP_999875.1:p.Arg79GlufsTer15
NM_214710.4:c.235del NP_999875.1:p.Arg79GlufsTer15
NM_001308209.2:c.232del MANE Select NP_001295138.2:p.Arg78GlufsTer15
NM_214710.5:c.235del NP_999875.2:p.Arg79GlufsTer15
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