Canonical Allele Identifier: CA1417304002
Gene: SI HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.164996784_164996785delinsAG , CM000665.2:g.164996784_164996785delinsAG GRCh38
NC_000003.11:g.164714572_164714573delinsAG , CM000665.1:g.164714572_164714573delinsAG GRCh37
NC_000003.10:g.166197266_166197267delinsAG NCBI36
NG_017043.1:g.86711_86712delinsCT

Transcript Alleles

HGVS Amino-acid Change
ENST00000264382.8:c.4541-13_4541-12delinsCT MANE Select ENSP00000264382.3:n.4541-13_4541-12delinsCT
ENST00000264382.7:c.4541-13_4541-12delinsCT ENSP00000264382.3:n.4541-13_4541-12delinsCT
NM_001041.3:c.4541-13_4541-12delinsCT NP_001032.2:n.4541-13_4541-12delinsCT
XM_011513078.1:c.4442-13_4442-12delinsCT XP_011511380.1:n.4442-13_4442-12delinsCT
XM_011513078.2:c.4442-13_4442-12delinsCT XP_011511380.1:n.4442-13_4442-12delinsCT
NM_001041.4:c.4541-13_4541-12delinsCT MANE Select NP_001032.2:n.4541-13_4541-12delinsCT