Canonical Allele Identifier: CA10619982

Gene: PRSS12

Linked Data

• ClinVar Variation Id: 347381
• ClinVar RCV Id: RCV000328319
• dbSNP Id: rs886059027
• gnomAD v3: 4-118281352-GA-G
• gnomAD v4: 4-118281352-GA-G
• MyVariant Identifiers: chr4:g.119202508del (hg19) ; chr4:g.118281353del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.118281353del , CM000666.2:g.118281353del	GRCh38
NC_000004.11:g.119202508del , CM000666.1:g.119202508del	GRCh37
NC_000004.10:g.119421956del	NCBI36
NG_023350.1:g.76415del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000296498.3:c.*583del MANE Select	ENSP00000296498.3:n.*583del
NM_003619.3:c.*583del	NP_003610.2:n.*583del
NM_003619.4:c.*583del MANE Select	NP_003610.2:n.*583del