Canonical Allele Identifier: CA631000299
Gene: PRSS57 HGNC NCBI

Linked Data

dbSNP Id: rs774941376
gnomAD v2: 19-694561-CA-C
gnomAD v3: 19-694561-CA-C
gnomAD v4: 19-694561-CA-C
MyVariant Identifiers: chr19:g.694562del (hg19) chr19:g.694562del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.694573del , CM000681.2:g.694573del GRCh38
NC_000019.9:g.694573del , CM000681.1:g.694573del GRCh37
NC_000019.8:g.645573del NCBI36
NG_051189.1:g.5970del

Transcript Alleles

HGVS Amino-acid Change
ENST00000329267.9:c.233+252del MANE Select ENSP00000327386.6:n.233+252del
ENST00000329267.8:c.233+252del ENSP00000327386.6:n.233+252del
ENST00000613411.4:c.236+252del ENSP00000482358.1:n.236+252del
NM_001308209.1:c.233+252del NP_001295138.1:n.233+252del
NM_214710.3:c.236+252del NP_999875.1:n.236+252del
NM_214710.4:c.236+252del NP_999875.1:n.236+252del
NM_001308209.2:c.233+252del MANE Select NP_001295138.2:n.233+252del
NM_214710.5:c.236+252del NP_999875.2:n.236+252del
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