Canonical Allele Identifier: CA2668425542

Gene: SI

Linked Data

• gnomAD v4: 3-165069059-A-AC

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.165069059_165069060insC , CM000665.2:g.165069059_165069060insC	GRCh38
NC_000003.11:g.164786847_164786848insC , CM000665.1:g.164786847_164786848insC	GRCh37
NC_000003.10:g.166269541_166269542insC	NCBI36
NG_017043.1:g.14436_14437insG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264382.8:c.373+18_373+19insG MANE Select	ENSP00000264382.3:n.373+18_373+19insG
ENST00000264382.7:c.373+18_373+19insG	ENSP00000264382.3:n.373+18_373+19insG
ENST00000476593.1:c.*248+18_*248+19insG	ENSP00000419450.1:n.*248+18_*248+19insG
NM_001041.3:c.373+18_373+19insG	NP_001032.2:n.373+18_373+19insG
XM_011513078.1:c.274+18_274+19insG	XP_011511380.1:n.274+18_274+19insG
XM_011513078.2:c.274+18_274+19insG	XP_011511380.1:n.274+18_274+19insG
NM_001041.4:c.373+18_373+19insG MANE Select	NP_001032.2:n.373+18_373+19insG