Canonical Allele Identifier: CA1417304037
Gene: SI HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.164996829_164996832delinsGTTT , CM000665.2:g.164996829_164996832delinsGTTT GRCh38
NC_000003.11:g.164714617_164714620delinsGTTT , CM000665.1:g.164714617_164714620delinsGTTT GRCh37
NC_000003.10:g.166197311_166197314delinsGTTT NCBI36
NG_017043.1:g.86664_86667delinsAAAC

Transcript Alleles

HGVS Amino-acid Change
ENST00000264382.8:c.4541-60_4541-57delinsAAAC MANE Select ENSP00000264382.3:n.4541-60_4541-57delinsAAAC
ENST00000264382.7:c.4541-60_4541-57delinsAAAC ENSP00000264382.3:n.4541-60_4541-57delinsAAAC
NM_001041.3:c.4541-60_4541-57delinsAAAC NP_001032.2:n.4541-60_4541-57delinsAAAC
XM_011513078.1:c.4442-60_4442-57delinsAAAC XP_011511380.1:n.4442-60_4442-57delinsAAAC
XM_011513078.2:c.4442-60_4442-57delinsAAAC XP_011511380.1:n.4442-60_4442-57delinsAAAC
NM_001041.4:c.4541-60_4541-57delinsAAAC MANE Select NP_001032.2:n.4541-60_4541-57delinsAAAC