Canonical Allele Identifier: CA1554044431

Gene: SMN2

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.70076869_70076875delinsCTTTTTT , CM000667.2:g.70076869_70076875delinsCTTTTTT	GRCh38
NC_000005.9:g.69372696_69372702delinsCTTTTTT , CM000667.1:g.69372696_69372702delinsCTTTTTT	GRCh37
NC_000005.8:g.69408452_69408458delinsCTTTTTT	NCBI36
NG_008728.1:g.32347_32353delinsCTTTTTT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000380743.9:c.*4-150_*4-144delinsCTTTTTT MANE Select	ENSP00000370119.4:n.*4-150_*4-144delinsCTTTTTT
ENST00000380742.8:c.*4-150_*4-144delinsCTTTTTT	ENSP00000370118.4:n.*4-150_*4-144delinsCTTTTTT
ENST00000380743.8:c.*4-150_*4-144delinsCTTTTTT	ENSP00000370119.4:n.*4-150_*4-144delinsCTTTTTT
ENST00000505346.5:n.649_655delinsCTTTTTT
ENST00000506734.5:c.*59-150_*59-144delinsCTTTTTT	ENSP00000424799.1:n.*59-150_*59-144delinsCTTTTTT
ENST00000507458.2:c.143-150_143-144delinsCTTTTTT
ENST00000514914.1:n.430-150_430-144delinsCTTTTTT
ENST00000626847.2:c.835-150_835-144delinsCTTTTTT	ENSP00000486152.1:n.835-150_835-144delinsCTTTTTT
NM_017411.3:c.*4-150_*4-144delinsCTTTTTT	NP_059107.1:n.*4-150_*4-144delinsCTTTTTT
NM_022875.2:c.835-150_835-144delinsCTTTTTT	NP_075013.1:n.835-150_835-144delinsCTTTTTT
NM_022876.2:c.*4-150_*4-144delinsCTTTTTT	NP_075014.1:n.*4-150_*4-144delinsCTTTTTT
NM_022877.2:c.739-150_739-144delinsCTTTTTT	NP_075015.1:n.739-150_739-144delinsCTTTTTT
XM_011543600.1:c.*4-150_*4-144delinsCTTTTTT	XP_011541902.1:n.*4-150_*4-144delinsCTTTTTT
XM_011543601.1:c.634-150_634-144delinsCTTTTTT	XP_011541903.1:n.634-150_634-144delinsCTTTTTT
XM_011543602.1:c.*4-150_*4-144delinsCTTTTTT	XP_011541904.1:n.*4-150_*4-144delinsCTTTTTT
XM_011543603.1:c.538-150_538-144delinsCTTTTTT	XP_011541905.1:n.538-150_538-144delinsCTTTTTT
XR_948432.1:n.1054+88865_1054+88871delinsCTTTTTT
XM_011543600.2:c.*4-150_*4-144delinsCTTTTTT	XP_011541902.1:n.*4-150_*4-144delinsCTTTTTT
XM_011543602.3:c.*4-150_*4-144delinsCTTTTTT	XP_011541904.1:n.*4-150_*4-144delinsCTTTTTT
XM_011543603.3:c.538-150_538-144delinsCTTTTTT	XP_011541905.1:n.538-150_538-144delinsCTTTTTT
NM_017411.4:c.*4-150_*4-144delinsCTTTTTT MANE Select	NP_059107.1:n.*4-150_*4-144delinsCTTTTTT
NM_022875.3:c.835-150_835-144delinsCTTTTTT	NP_075013.1:n.835-150_835-144delinsCTTTTTT