Canonical Allele Identifier: CA884127992

Gene: PRSS57

Linked Data

• dbSNP Id: rs1305175066
• gnomAD v4: 19-695058-CAG-C
• MyVariant Identifiers: chr19:g.695059_695060del (hg19) ; chr19:g.695059_695060del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.695062_695063del , CM000681.2:g.695062_695063del	GRCh38
NC_000019.9:g.695062_695063del , CM000681.1:g.695062_695063del	GRCh37
NC_000019.8:g.646062_646063del	NCBI36
NG_051189.1:g.5472_5473del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000329267.9:c.80-93_80-92del MANE Select	ENSP00000327386.6:n.80-93_80-92del
ENST00000329267.8:c.80-93_80-92del	ENSP00000327386.6:n.80-93_80-92del
ENST00000613411.4:c.80-90_80-89del	ENSP00000482358.1:n.80-90_80-89del
NM_001308209.1:c.80-93_80-92del	NP_001295138.1:n.80-93_80-92del
NM_214710.3:c.80-90_80-89del	NP_999875.1:n.80-90_80-89del
NM_214710.4:c.80-90_80-89del	NP_999875.1:n.80-90_80-89del
NM_001308209.2:c.80-93_80-92del MANE Select	NP_001295138.2:n.80-93_80-92del
NM_214710.5:c.80-90_80-89del	NP_999875.2:n.80-90_80-89del