Canonical Allele Identifier: CA631000291
Gene: PRSS57 HGNC NCBI

Linked Data

dbSNP Id: rs774941376
gnomAD v2: 19-694561-C-CA
gnomAD v3: 19-694561-C-CA
gnomAD v4: 19-694561-C-CA

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.694573dup , CM000681.2:g.694573dup GRCh38
NC_000019.9:g.694573dup , CM000681.1:g.694573dup GRCh37
NC_000019.8:g.645573dup NCBI36
NG_051189.1:g.5970dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000329267.9:c.233+252dup MANE Select ENSP00000327386.6:n.233+252dup
ENST00000329267.8:c.233+252dup ENSP00000327386.6:n.233+252dup
ENST00000613411.4:c.236+252dup ENSP00000482358.1:n.236+252dup
NM_001308209.1:c.233+252dup NP_001295138.1:n.233+252dup
NM_214710.3:c.236+252dup NP_999875.1:n.236+252dup
NM_214710.4:c.236+252dup NP_999875.1:n.236+252dup
NM_001308209.2:c.233+252dup MANE Select NP_001295138.2:n.233+252dup
NM_214710.5:c.236+252dup NP_999875.2:n.236+252dup