Canonical Allele Identifier: CA2317263445

Gene: PRSS57

Linked Data

• dbSNP Id: rs2031737163

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.694651del , CM000681.2:g.694651del	GRCh38
NC_000019.9:g.694651del , CM000681.1:g.694651del	GRCh37
NC_000019.8:g.645651del	NCBI36
NG_051189.1:g.5881del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000329267.9:c.233+163del MANE Select	ENSP00000327386.6:n.233+163del
ENST00000329267.8:c.233+163del	ENSP00000327386.6:n.233+163del
ENST00000613411.4:c.236+163del	ENSP00000482358.1:n.236+163del
NM_001308209.1:c.233+163del	NP_001295138.1:n.233+163del
NM_214710.3:c.236+163del	NP_999875.1:n.236+163del
NM_214710.4:c.236+163del	NP_999875.1:n.236+163del
NM_001308209.2:c.233+163del MANE Select	NP_001295138.2:n.233+163del
NM_214710.5:c.236+163del	NP_999875.2:n.236+163del