Canonical Allele Identifier: CA342889
Gene: SPINK1 HGNC NCBI

Linked Data

ClinVar Variation Id: 36780
ClinVar RCV Id: RCV000030460 RCV001811223
dbSNP Id: rs193922659
ExAC: 5:147211113 TG / T
gnomAD v2: 5-147211113-TG-T
gnomAD v3: 5-147831550-TG-T
gnomAD v4: 5-147831550-TG-T
MyVariant Identifiers: chr5:g.147211114del (hg19) chr5:g.147831551del (hg38)
PubMed: PMID:24624459
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.147831551del , CM000667.2:g.147831551del GRCh38
NC_000005.9:g.147211114del , CM000667.1:g.147211114del GRCh37
NC_000005.8:g.147191307del NCBI36
NG_008356.2:g.12681del

Transcript Alleles

HGVS Amino-acid Change
ENST00000296695.10:c.27del MANE Select ENSP00000296695.5:p.Ser10ValfsTer6
ENST00000296695.9:c.27del ENSP00000296695.5:p.Ser10ValfsTer6
ENST00000510027.2:c.27del ENSP00000427376.1:p.Ser10ValfsTer6
NM_003122.4:c.27del NP_003113.2:p.Ser10ValfsTer6
NM_001354966.1:c.27del NP_001341895.1:p.Ser10ValfsTer6
NM_001354966.2:c.27del NP_001341895.1:p.Ser10ValfsTer6
NM_001379610.1:c.27del MANE Select NP_001366539.1:p.Ser10ValfsTer6
NM_003122.5:c.27del NP_003113.2:p.Ser10ValfsTer6
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