Canonical Allele Identifier: CA992435790

Gene: PRSS57

Linked Data

• dbSNP Id: rs2031756413
• gnomAD v3: 19-695175-TG-T
• gnomAD v4: 19-695175-TG-T

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.695178del , CM000681.2:g.695178del	GRCh38
NC_000019.9:g.695178del , CM000681.1:g.695178del	GRCh37
NC_000019.8:g.646178del	NCBI36
NG_051189.1:g.5356del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000329267.9:c.79+176del MANE Select	ENSP00000327386.6:n.79+176del
ENST00000329267.8:c.79+176del	ENSP00000327386.6:n.79+176del
ENST00000613411.4:c.79+176del	ENSP00000482358.1:n.79+176del
NM_001308209.1:c.79+176del	NP_001295138.1:n.79+176del
NM_214710.3:c.79+176del	NP_999875.1:n.79+176del
NM_214710.4:c.79+176del	NP_999875.1:n.79+176del
NM_001308209.2:c.79+176del MANE Select	NP_001295138.2:n.79+176del
NM_214710.5:c.79+176del	NP_999875.2:n.79+176del