Canonical Allele Identifier: CA992435281

Gene: PRSS57

Linked Data

• dbSNP Id: rs774941376
• gnomAD v3: 19-694561-C-CAAAAAAAAAAAAAAAAAAAAAAAAA
• gnomAD v4: 19-694561-C-CAAAAAAAAAAAAAAAAAAAAAAAAA

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.694573_694574insAAAAAAAAAAAAAAAAAAAAAAAAA , CM000681.2:g.694573_694574insAAAAAAAAAAAAAAAAAAAAAAAAA	GRCh38
NC_000019.9:g.694573_694574insAAAAAAAAAAAAAAAAAAAAAAAAA , CM000681.1:g.694573_694574insAAAAAAAAAAAAAAAAAAAAAAAAA	GRCh37
NC_000019.8:g.645573_645574insAAAAAAAAAAAAAAAAAAAAAAAAA	NCBI36
NG_051189.1:g.5970_5971insTTTTTTTTTTTTTTTTTTTTTTTTT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000329267.9:c.233+252_233+253insTTTTTTTTTTTTTTTTTTTTTTTTT MANE Select	ENSP00000327386.6:n.233+252_233+253insTTTTTTTTTTTTTTTTTTTTTTT...
ENST00000329267.8:c.233+252_233+253insTTTTTTTTTTTTTTTTTTTTTTTTT	ENSP00000327386.6:n.233+252_233+253insTTTTTTTTTTTTTTTTTTTTTTT...
ENST00000613411.4:c.236+252_236+253insTTTTTTTTTTTTTTTTTTTTTTTTT	ENSP00000482358.1:n.236+252_236+253insTTTTTTTTTTTTTTTTTTTTTTT...
NM_001308209.1:c.233+252_233+253insTTTTTTTTTTTTTTTTTTTTTTTTT	NP_001295138.1:n.233+252_233+253insTTTTTTTTTTTTTTTTTTTTTTTTT
NM_214710.3:c.236+252_236+253insTTTTTTTTTTTTTTTTTTTTTTTTT	NP_999875.1:n.236+252_236+253insTTTTTTTTTTTTTTTTTTTTTTTTT
NM_214710.4:c.236+252_236+253insTTTTTTTTTTTTTTTTTTTTTTTTT	NP_999875.1:n.236+252_236+253insTTTTTTTTTTTTTTTTTTTTTTTTT
NM_001308209.2:c.233+252_233+253insTTTTTTTTTTTTTTTTTTTTTTTTT MANE Select	NP_001295138.2:n.233+252_233+253insTTTTTTTTTTTTTTTTTTTTTTTTT
NM_214710.5:c.236+252_236+253insTTTTTTTTTTTTTTTTTTTTTTTTT	NP_999875.2:n.236+252_236+253insTTTTTTTTTTTTTTTTTTTTTTTTT