Canonical Allele Identifier: CA2690358
Gene: SI HGNC NCBI
gnomAD v2:
3:164739083 TAA / T
gnomAD v3:
3:165021295 TAA / T
gnomAD v4:
chr3-165021295-TAA-T
Joint Max Group AF 0.00022171 (AMR)
Genomes Max Group AF 0.00008942 (AMR)
Exomes Max Group AF 0.0002242 (AMR)
ClinVar RCV:
RCV000479995
RCV000778684
ClinVar Variation:
418676
dbSNP:
776569472
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.165021297_165021298del , CM000665.2:g.165021297_165021298del GRCh38
NC_000003.11:g.164739085_164739086del , CM000665.1:g.164739085_164739086del GRCh37
NC_000003.10:g.166221779_166221780del NCBI36
NG_017043.1:g.62199_62200del

Transcript Alleles

HGVS Amino-acid Change
ENST00000264382.8:c.3186_3187del MANE Select ENSP00000264382.3:p.Tyr1063Ter
ENST00000264382.7:c.3186_3187del ENSP00000264382.3:p.Tyr1063Ter
NM_001041.3:c.3186_3187del NP_001032.2:p.Tyr1063Ter
XM_011513078.1:c.3087_3088del XP_011511380.1:p.Tyr1030Ter
XM_011513078.2:c.3087_3088del XP_011511380.1:p.Tyr1030Ter
NM_001041.4:c.3186_3187del MANE Select NP_001032.2:p.Tyr1063Ter
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