Canonical Allele Identifier: CA2587779605
Gene: PRSS57 HGNC NCBI

Linked Data

gnomAD v4: 19-695284-T-TG

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.695284_695285insG , CM000681.2:g.695284_695285insG GRCh38
NC_000019.9:g.695284_695285insG , CM000681.1:g.695284_695285insG GRCh37
NC_000019.8:g.646284_646285insG NCBI36
NG_051189.1:g.5247_5248insC

Transcript Alleles

HGVS Amino-acid Change
ENST00000329267.9:c.79+67_79+68insC MANE Select ENSP00000327386.6:n.79+67_79+68insC
ENST00000329267.8:c.79+67_79+68insC ENSP00000327386.6:n.79+67_79+68insC
ENST00000613411.4:c.79+67_79+68insC ENSP00000482358.1:n.79+67_79+68insC
NM_001308209.1:c.79+67_79+68insC NP_001295138.1:n.79+67_79+68insC
NM_214710.3:c.79+67_79+68insC NP_999875.1:n.79+67_79+68insC
NM_214710.4:c.79+67_79+68insC NP_999875.1:n.79+67_79+68insC
NM_001308209.2:c.79+67_79+68insC MANE Select NP_001295138.2:n.79+67_79+68insC
NM_214710.5:c.79+67_79+68insC NP_999875.2:n.79+67_79+68insC