Canonical Allele Identifier: CA2317263381
Gene: PRSS57 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.694573_694574delinsAG , CM000681.2:g.694573_694574delinsAG GRCh38
NC_000019.9:g.694573_694574delinsAG , CM000681.1:g.694573_694574delinsAG GRCh37
NC_000019.8:g.645573_645574delinsAG NCBI36
NG_051189.1:g.5958_5959delinsCT

Transcript Alleles

HGVS Amino-acid Change
ENST00000329267.9:c.233+240_233+241delinsCT MANE Select ENSP00000327386.6:n.233+240_233+241delinsCT
ENST00000329267.8:c.233+240_233+241delinsCT ENSP00000327386.6:n.233+240_233+241delinsCT
ENST00000613411.4:c.236+240_236+241delinsCT ENSP00000482358.1:n.236+240_236+241delinsCT
NM_001308209.1:c.233+240_233+241delinsCT NP_001295138.1:n.233+240_233+241delinsCT
NM_214710.3:c.236+240_236+241delinsCT NP_999875.1:n.236+240_236+241delinsCT
NM_214710.4:c.236+240_236+241delinsCT NP_999875.1:n.236+240_236+241delinsCT
NM_001308209.2:c.233+240_233+241delinsCT MANE Select NP_001295138.2:n.233+240_233+241delinsCT
NM_214710.5:c.236+240_236+241delinsCT NP_999875.2:n.236+240_236+241delinsCT