Canonical Allele Identifier: CA1417304018
Gene: SI HGNC NCBI

Linked Data

dbSNP Id: rs1718034710
gnomAD v4: 3-164996803-GTTA-G
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Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.164996809_164996811del , CM000665.2:g.164996809_164996811del GRCh38
NC_000003.11:g.164714597_164714599del , CM000665.1:g.164714597_164714599del GRCh37
NC_000003.10:g.166197291_166197293del NCBI36
NG_017043.1:g.86690_86692del

Transcript Alleles

HGVS Amino-acid Change
ENST00000264382.8:c.4541-34_4541-32del MANE Select ENSP00000264382.3:n.4541-34_4541-32del
ENST00000264382.7:c.4541-34_4541-32del ENSP00000264382.3:n.4541-34_4541-32del
NM_001041.3:c.4541-34_4541-32del NP_001032.2:n.4541-34_4541-32del
XM_011513078.1:c.4442-34_4442-32del XP_011511380.1:n.4442-34_4442-32del
XM_011513078.2:c.4442-34_4442-32del XP_011511380.1:n.4442-34_4442-32del
NM_001041.4:c.4541-34_4541-32del MANE Select NP_001032.2:n.4541-34_4541-32del
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