Canonical Allele Identifier: CA2317263427
Gene: PRSS57 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.694633_694644delinsTGCTTCTTTTGC , CM000681.2:g.694633_694644delinsTGCTTCTTTTGC GRCh38
NC_000019.9:g.694633_694644delinsTGCTTCTTTTGC , CM000681.1:g.694633_694644delinsTGCTTCTTTTGC GRCh37
NC_000019.8:g.645633_645644delinsTGCTTCTTTTGC NCBI36
NG_051189.1:g.5888_5899delinsGCAAAAGAAGCA

Transcript Alleles

HGVS Amino-acid Change
ENST00000329267.9:c.233+170_233+181delinsGCAAAAGAAGCA MANE Select ENSP00000327386.6:n.233+170_233+181delinsGCAAAAGAAGCA
ENST00000329267.8:c.233+170_233+181delinsGCAAAAGAAGCA ENSP00000327386.6:n.233+170_233+181delinsGCAAAAGAAGCA
ENST00000613411.4:c.236+170_236+181delinsGCAAAAGAAGCA ENSP00000482358.1:n.236+170_236+181delinsGCAAAAGAAGCA
NM_001308209.1:c.233+170_233+181delinsGCAAAAGAAGCA NP_001295138.1:n.233+170_233+181delinsGCAAAAGAAGCA
NM_214710.3:c.236+170_236+181delinsGCAAAAGAAGCA NP_999875.1:n.236+170_236+181delinsGCAAAAGAAGCA
NM_214710.4:c.236+170_236+181delinsGCAAAAGAAGCA NP_999875.1:n.236+170_236+181delinsGCAAAAGAAGCA
NM_001308209.2:c.233+170_233+181delinsGCAAAAGAAGCA MANE Select NP_001295138.2:n.233+170_233+181delinsGCAAAAGAAGCA
NM_214710.5:c.236+170_236+181delinsGCAAAAGAAGCA NP_999875.2:n.236+170_236+181delinsGCAAAAGAAGCA