Canonical Allele Identifier: CA2668421698
Gene: SI HGNC NCBI

Linked Data

gnomAD v4: 3-165046765-TA-T
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Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.165046769del , CM000665.2:g.165046769del GRCh38
NC_000003.11:g.164764557del , CM000665.1:g.164764557del GRCh37
NC_000003.10:g.166247251del NCBI36
NG_017043.1:g.36730del

Transcript Alleles

HGVS Amino-acid change
ENST00000264382.8:c.1887+75del MANE Select ENSP00000264382.3:n.1887+75del
ENST00000264382.7:c.1887+75del ENSP00000264382.3:n.1887+75del
NM_001041.3:c.1887+75del NP_001032.2:n.1887+75del
XM_011513078.1:c.1788+75del XP_011511380.1:n.1788+75del
XM_011513078.2:c.1788+75del XP_011511380.1:n.1788+75del
NM_001041.4:c.1887+75del MANE Select NP_001032.2:n.1887+75del
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Search 100 bp 3'