Canonical Allele Identifier: CA2690211
Gene: SI HGNC NCBI
gnomAD v2:
3:164735594 CAT / C
gnomAD v3:
3:165017806 CAT / C
gnomAD v4:
chr3-165017806-CAT-C
Joint Max Group AF 0.00010465 (NFE)
Genomes Max Group AF 0.0000285 (NFE)
Exomes Max Group AF 0.00012063 (AMR)
ClinVar RCV:
RCV000482732
RCV003401533
ClinVar Variation:
420501
dbSNP:
780535026
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Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.165017810_165017811del , CM000665.2:g.165017810_165017811del GRCh38
NC_000003.11:g.164735598_164735599del , CM000665.1:g.164735598_164735599del GRCh37
NC_000003.10:g.166218292_166218293del NCBI36
NG_017043.1:g.65688_65689del

Transcript Alleles

HGVS Amino-acid Change
ENST00000264382.8:c.3586_3587del MANE Select ENSP00000264382.3:p.Met1196ValfsTer15
ENST00000264382.7:c.3586_3587del ENSP00000264382.3:p.Met1196ValfsTer15
NM_001041.3:c.3586_3587del NP_001032.2:p.Met1196ValfsTer15
XM_011513078.1:c.3487_3488del XP_011511380.1:p.Met1163ValfsTer15
XM_011513078.2:c.3487_3488del XP_011511380.1:p.Met1163ValfsTer15
NM_001041.4:c.3586_3587del MANE Select NP_001032.2:p.Met1196ValfsTer15
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