Canonical Allele Identifier: CA9022279
Gene: PRSS57 HGNC NCBI

Linked Data

dbSNP Id: rs746024289
gnomAD v2: 19-694922-T-TG
gnomAD v3: 19-694922-T-TG
gnomAD v4: 19-694922-T-TG

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.694928dup , CM000681.2:g.694928dup GRCh38
NC_000019.9:g.694928dup , CM000681.1:g.694928dup GRCh37
NC_000019.8:g.645928dup NCBI36
NG_051189.1:g.5609dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000329267.9:c.124dup MANE Select ENSP00000327386.6:p.His42ProfsTer?
ENST00000329267.8:c.124dup ENSP00000327386.6:p.His42ProfsTer?
ENST00000613411.4:c.127dup ENSP00000482358.1:p.His43ProfsTer?
NM_001308209.1:c.124dup NP_001295138.1:p.His42ProfsTer?
NM_214710.3:c.127dup NP_999875.1:p.His43ProfsTer?
NM_214710.4:c.127dup NP_999875.1:p.His43ProfsTer?
NM_001308209.2:c.124dup MANE Select NP_001295138.2:p.His42ProfsTer?
NM_214710.5:c.127dup NP_999875.2:p.His43ProfsTer?