Canonical Allele Identifier: CA10619965
Gene: PRSS12 HGNC NCBI

Linked Data

ClinVar Variation Id: 347373
ClinVar RCV Id: RCV000355255
dbSNP Id: rs3083027
gnomAD v2: 4-119201531-GTT-G
gnomAD v3: 4-118280376-GTT-G
gnomAD v4: 4-118280376-GTT-G
MyVariant Identifiers: chr4:g.119201532_119201533del (hg19) chr4:g.118280377_118280378del (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.118280378_118280379del , CM000666.2:g.118280378_118280379del GRCh38
NC_000004.11:g.119201533_119201534del , CM000666.1:g.119201533_119201534del GRCh37
NC_000004.10:g.119420981_119420982del NCBI36
NG_023350.1:g.77390_77391del

Transcript Alleles

HGVS Amino-acid Change
ENST00000296498.3:c.*1558_*1559del MANE Select ENSP00000296498.3:n.*1558_*1559del
NM_003619.3:c.*1558_*1559del NP_003610.2:n.*1558_*1559del
NM_003619.4:c.*1558_*1559del MANE Select NP_003610.2:n.*1558_*1559del
Search 100 bp 5'
Search 100 bp 3'