Canonical Allele Identifier: CA1417400127

Gene: SI

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.165046727_165046729delinsCTG , CM000665.2:g.165046727_165046729delinsCTG	GRCh38
NC_000003.11:g.164764515_164764517delinsCTG , CM000665.1:g.164764515_164764517delinsCTG	GRCh37
NC_000003.10:g.166247209_166247211delinsCTG	NCBI36
NG_017043.1:g.36767_36769delinsCAG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264382.8:c.1887+112_1887+114delinsCAG MANE Select	ENSP00000264382.3:n.1887+112_1887+114delinsCAG
ENST00000264382.7:c.1887+112_1887+114delinsCAG	ENSP00000264382.3:n.1887+112_1887+114delinsCAG
NM_001041.3:c.1887+112_1887+114delinsCAG	NP_001032.2:n.1887+112_1887+114delinsCAG
XM_011513078.1:c.1788+112_1788+114delinsCAG	XP_011511380.1:n.1788+112_1788+114delinsCAG
XM_011513078.2:c.1788+112_1788+114delinsCAG	XP_011511380.1:n.1788+112_1788+114delinsCAG
NM_001041.4:c.1887+112_1887+114delinsCAG MANE Select	NP_001032.2:n.1887+112_1887+114delinsCAG