Canonical Allele Identifier: CA2587779142

Gene: PRSS57

Linked Data

• gnomAD v4: 19-694668-TCC-T

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.694670_694671del , CM000681.2:g.694670_694671del	GRCh38
NC_000019.9:g.694670_694671del , CM000681.1:g.694670_694671del	GRCh37
NC_000019.8:g.645670_645671del	NCBI36
NG_051189.1:g.5862_5863del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000329267.9:c.233+144_233+145del MANE Select	ENSP00000327386.6:n.233+144_233+145del
ENST00000329267.8:c.233+144_233+145del	ENSP00000327386.6:n.233+144_233+145del
ENST00000613411.4:c.236+144_236+145del	ENSP00000482358.1:n.236+144_236+145del
NM_001308209.1:c.233+144_233+145del	NP_001295138.1:n.233+144_233+145del
NM_214710.3:c.236+144_236+145del	NP_999875.1:n.236+144_236+145del
NM_214710.4:c.236+144_236+145del	NP_999875.1:n.236+144_236+145del
NM_001308209.2:c.233+144_233+145del MANE Select	NP_001295138.2:n.233+144_233+145del
NM_214710.5:c.236+144_236+145del	NP_999875.2:n.236+144_236+145del