Canonical Allele Identifier: CA631000293

Gene: PRSS57

Linked Data

• dbSNP Id: rs774941376
• gnomAD v2: 19-694561-C-CAAAAAAAAAAAAAA
• gnomAD v3: 19-694561-C-CAAAAAAAAAAAAAA
• gnomAD v4: 19-694561-C-CAAAAAAAAAAAAAA
• MyVariant Identifiers: chr19:g.694562_694563insAAAAAAAAAAAAAA (hg19) ; chr19:g.694562_694563insAAAAAAAAAAAAAA (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.694573_694574insAAAAAAAAAAAAAA , CM000681.2:g.694573_694574insAAAAAAAAAAAAAA	GRCh38
NC_000019.9:g.694573_694574insAAAAAAAAAAAAAA , CM000681.1:g.694573_694574insAAAAAAAAAAAAAA	GRCh37
NC_000019.8:g.645573_645574insAAAAAAAAAAAAAA	NCBI36
NG_051189.1:g.5970_5971insTTTTTTTTTTTTTT

Transcript Alleles

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