Canonical Allele Identifier: CA2766888437

Gene: SMN2

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.70076703_70076704insCCAAACACACCCAACAC , CM000667.2:g.70076703_70076704insCCAAACACACCCAACAC	GRCh38
NC_000005.9:g.69372530_69372531insCCAAACACACCCAACAC , CM000667.1:g.69372530_69372531insCCAAACACACCCAACAC	GRCh37
NC_000005.8:g.69408286_69408287insCCAAACACACCCAACAC	NCBI36
NG_008728.1:g.32181_32182insCCAAACACACCCAACAC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000380743.9:c.*3+129_*3+130insCCAAACACACCCAACAC MANE Select	ENSP00000370119.4:n.*3+129_*3+130insCCAAACACACCCAACAC
ENST00000380742.8:c.*3+129_*3+130insCCAAACACACCCAACAC	ENSP00000370118.4:n.*3+129_*3+130insCCAAACACACCCAACAC
ENST00000380743.8:c.*3+129_*3+130insCCAAACACACCCAACAC	ENSP00000370119.4:n.*3+129_*3+130insCCAAACACACCCAACAC
ENST00000505346.5:n.483_484insCCAAACACACCCAACAC
ENST00000506734.5:c.*59-316_*59-315insCCAAACACACCCAACAC	ENSP00000424799.1:n.*59-316_*59-315insCCAAACACACCCAACAC
ENST00000507458.2:c.142+129_142+130insCCAAACACACCCAACAC
ENST00000511812.5:c.*132_*133insCCAAACACACCCAACAC	ENSP00000424282.1:n.*132_*133insCCAAACACACCCAACAC
ENST00000514914.1:n.429+129_429+130insCCAAACACACCCAACAC
ENST00000626847.2:c.835-316_835-315insCCAAACACACCCAACAC	ENSP00000486152.1:n.835-316_835-315insCCAAACACACCCAACAC
NM_017411.3:c.*3+129_*3+130insCCAAACACACCCAACAC	NP_059107.1:n.*3+129_*3+130insCCAAACACACCCAACAC
NM_022875.2:c.835-316_835-315insCCAAACACACCCAACAC	NP_075013.1:n.835-316_835-315insCCAAACACACCCAACAC
NM_022876.2:c.*3+129_*3+130insCCAAACACACCCAACAC	NP_075014.1:n.*3+129_*3+130insCCAAACACACCCAACAC
NM_022877.2:c.739-316_739-315insCCAAACACACCCAACAC	NP_075015.1:n.739-316_739-315insCCAAACACACCCAACAC
XM_011543600.1:c.*3+129_*3+130insCCAAACACACCCAACAC	XP_011541902.1:n.*3+129_*3+130insCCAAACACACCCAACAC
XM_011543601.1:c.634-316_634-315insCCAAACACACCCAACAC	XP_011541903.1:n.634-316_634-315insCCAAACACACCCAACAC
XM_011543602.1:c.*3+129_*3+130insCCAAACACACCCAACAC	XP_011541904.1:n.*3+129_*3+130insCCAAACACACCCAACAC
XM_011543603.1:c.538-316_538-315insCCAAACACACCCAACAC	XP_011541905.1:n.538-316_538-315insCCAAACACACCCAACAC
XR_948432.1:n.1054+88699_1054+88700insCCAAACACACCCAACAC
XM_011543600.2:c.*3+129_*3+130insCCAAACACACCCAACAC	XP_011541902.1:n.*3+129_*3+130insCCAAACACACCCAACAC
XM_011543602.3:c.*3+129_*3+130insCCAAACACACCCAACAC	XP_011541904.1:n.*3+129_*3+130insCCAAACACACCCAACAC
XM_011543603.3:c.538-316_538-315insCCAAACACACCCAACAC	XP_011541905.1:n.538-316_538-315insCCAAACACACCCAACAC
NM_017411.4:c.*3+129_*3+130insCCAAACACACCCAACAC MANE Select	NP_059107.1:n.*3+129_*3+130insCCAAACACACCCAACAC
NM_022875.3:c.835-316_835-315insCCAAACACACCCAACAC	NP_075013.1:n.835-316_835-315insCCAAACACACCCAACAC