Canonical Allele Identifier: CA1554044397

Gene: SMN2

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.70076759_70076760delinsAC , CM000667.2:g.70076759_70076760delinsAC	GRCh38
NC_000005.9:g.69372586_69372587delinsAC , CM000667.1:g.69372586_69372587delinsAC	GRCh37
NC_000005.8:g.69408342_69408343delinsAC	NCBI36
NG_008728.1:g.32237_32238delinsAC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000380743.9:c.*3+185_*3+186delinsAC MANE Select	ENSP00000370119.4:n.*3+185_*3+186delinsAC
ENST00000380742.8:c.*3+185_*3+186delinsAC	ENSP00000370118.4:n.*3+185_*3+186delinsAC
ENST00000380743.8:c.*3+185_*3+186delinsAC	ENSP00000370119.4:n.*3+185_*3+186delinsAC
ENST00000505346.5:n.539_540delinsAC
ENST00000506734.5:c.*59-260_*59-259delinsAC	ENSP00000424799.1:n.*59-260_*59-259delinsAC
ENST00000507458.2:c.142+185_142+186delinsAC
ENST00000514914.1:n.429+185_429+186delinsAC
ENST00000626847.2:c.835-260_835-259delinsAC	ENSP00000486152.1:n.835-260_835-259delinsAC
NM_017411.3:c.*3+185_*3+186delinsAC	NP_059107.1:n.*3+185_*3+186delinsAC
NM_022875.2:c.835-260_835-259delinsAC	NP_075013.1:n.835-260_835-259delinsAC
NM_022876.2:c.*3+185_*3+186delinsAC	NP_075014.1:n.*3+185_*3+186delinsAC
NM_022877.2:c.739-260_739-259delinsAC	NP_075015.1:n.739-260_739-259delinsAC
XM_011543600.1:c.*3+185_*3+186delinsAC	XP_011541902.1:n.*3+185_*3+186delinsAC
XM_011543601.1:c.634-260_634-259delinsAC	XP_011541903.1:n.634-260_634-259delinsAC
XM_011543602.1:c.*3+185_*3+186delinsAC	XP_011541904.1:n.*3+185_*3+186delinsAC
XM_011543603.1:c.538-260_538-259delinsAC	XP_011541905.1:n.538-260_538-259delinsAC
XR_948432.1:n.1054+88755_1054+88756delinsAC
XM_011543600.2:c.*3+185_*3+186delinsAC	XP_011541902.1:n.*3+185_*3+186delinsAC
XM_011543602.3:c.*3+185_*3+186delinsAC	XP_011541904.1:n.*3+185_*3+186delinsAC
XM_011543603.3:c.538-260_538-259delinsAC	XP_011541905.1:n.538-260_538-259delinsAC
NM_017411.4:c.*3+185_*3+186delinsAC MANE Select	NP_059107.1:n.*3+185_*3+186delinsAC
NM_022875.3:c.835-260_835-259delinsAC	NP_075013.1:n.835-260_835-259delinsAC