Canonical Allele Identifier: CA1417381885

Gene: SI

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.165069012_165069013delinsAT , CM000665.2:g.165069012_165069013delinsAT	GRCh38
NC_000003.11:g.164786800_164786801delinsAT , CM000665.1:g.164786800_164786801delinsAT	GRCh37
NC_000003.10:g.166269494_166269495delinsAT	NCBI36
NG_017043.1:g.14483_14484delinsAT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264382.8:c.373+65_373+66delinsAT MANE Select	ENSP00000264382.3:n.373+65_373+66delinsAT
ENST00000264382.7:c.373+65_373+66delinsAT	ENSP00000264382.3:n.373+65_373+66delinsAT
ENST00000476593.1:c.*248+65_*248+66delinsAT	ENSP00000419450.1:n.*248+65_*248+66delinsAT
NM_001041.3:c.373+65_373+66delinsAT	NP_001032.2:n.373+65_373+66delinsAT
XM_011513078.1:c.274+65_274+66delinsAT	XP_011511380.1:n.274+65_274+66delinsAT
XM_011513078.2:c.274+65_274+66delinsAT	XP_011511380.1:n.274+65_274+66delinsAT
NM_001041.4:c.373+65_373+66delinsAT MANE Select	NP_001032.2:n.373+65_373+66delinsAT