Canonical Allele Identifier: CA2317263428
Gene: PRSS57 HGNC NCBI

Linked Data

dbSNP Id: rs2031736458

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.694634_694644del , CM000681.2:g.694634_694644del GRCh38
NC_000019.9:g.694634_694644del , CM000681.1:g.694634_694644del GRCh37
NC_000019.8:g.645634_645644del NCBI36
NG_051189.1:g.5888_5898del

Transcript Alleles

HGVS Amino-acid Change
ENST00000329267.9:c.233+170_233+180del MANE Select ENSP00000327386.6:n.233+170_233+180del
ENST00000329267.8:c.233+170_233+180del ENSP00000327386.6:n.233+170_233+180del
ENST00000613411.4:c.236+170_236+180del ENSP00000482358.1:n.236+170_236+180del
NM_001308209.1:c.233+170_233+180del NP_001295138.1:n.233+170_233+180del
NM_214710.3:c.236+170_236+180del NP_999875.1:n.236+170_236+180del
NM_214710.4:c.236+170_236+180del NP_999875.1:n.236+170_236+180del
NM_001308209.2:c.233+170_233+180del MANE Select NP_001295138.2:n.233+170_233+180del
NM_214710.5:c.236+170_236+180del NP_999875.2:n.236+170_236+180del