Canonical Allele Identifier: CA10616986

Gene: PRSS12

Linked Data

• ClinVar Variation Id: 347385
• ClinVar RCV Id: RCV000378986
• dbSNP Id: rs553222667
• gnomAD v2: 4-119202823-ATAGG-A
• gnomAD v3: 4-118281668-ATAGG-A
• gnomAD v4: 4-118281668-ATAGG-A
• MyVariant Identifiers: chr4:g.119202824_119202827del (hg19) ; chr4:g.118281669_118281672del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.118281673_118281676del , CM000666.2:g.118281673_118281676del	GRCh38
NC_000004.11:g.119202828_119202831del , CM000666.1:g.119202828_119202831del	GRCh37
NC_000004.10:g.119422276_119422279del	NCBI36
NG_023350.1:g.76096_76099del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000296498.3:c.*264_*267del MANE Select	ENSP00000296498.3:n.*264_*267del
NM_003619.3:c.*264_*267del	NP_003610.2:n.*264_*267del
NM_003619.4:c.*264_*267del MANE Select	NP_003610.2:n.*264_*267del