Canonical Allele Identifier: CA2813227825
Gene: PRSS57 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.694576_694577insAAAAAAAATGA , CM000681.2:g.694576_694577insAAAAAAAATGA GRCh38
NC_000019.9:g.694576_694577insAAAAAAAATGA , CM000681.1:g.694576_694577insAAAAAAAATGA GRCh37
NC_000019.8:g.645576_645577insAAAAAAAATGA NCBI36
NG_051189.1:g.5956_5957insCATTTTTTTTT

Transcript Alleles

HGVS Amino-acid Change
ENST00000329267.9:c.233+238_233+239insCATTTTTTTTT MANE Select ENSP00000327386.6:n.233+238_233+239insCATTTTTTTTT
ENST00000329267.8:c.233+238_233+239insCATTTTTTTTT ENSP00000327386.6:n.233+238_233+239insCATTTTTTTTT
ENST00000613411.4:c.236+238_236+239insCATTTTTTTTT ENSP00000482358.1:n.236+238_236+239insCATTTTTTTTT
NM_001308209.1:c.233+238_233+239insCATTTTTTTTT NP_001295138.1:n.233+238_233+239insCATTTTTTTTT
NM_214710.3:c.236+238_236+239insCATTTTTTTTT NP_999875.1:n.236+238_236+239insCATTTTTTTTT
NM_214710.4:c.236+238_236+239insCATTTTTTTTT NP_999875.1:n.236+238_236+239insCATTTTTTTTT
NM_001308209.2:c.233+238_233+239insCATTTTTTTTT MANE Select NP_001295138.2:n.233+238_233+239insCATTTTTTTTT
NM_214710.5:c.236+238_236+239insCATTTTTTTTT NP_999875.2:n.236+238_236+239insCATTTTTTTTT