Canonical Allele Identifier: CA1554044286

Gene: SMN2

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.70076422_70076423delinsTG , CM000667.2:g.70076422_70076423delinsTG	GRCh38
NC_000005.9:g.69372249_69372250delinsTG , CM000667.1:g.69372249_69372250delinsTG	GRCh37
NC_000005.8:g.69408005_69408006delinsTG	NCBI36
NG_008728.1:g.31900_31901delinsTG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000380743.9:c.835-99_835-98delinsTG MANE Select	ENSP00000370119.4:n.835-99_835-98delinsTG
ENST00000380741.8:c.835-99_835-98delinsTG	ENSP00000370117.5:n.835-99_835-98delinsTG
ENST00000380742.8:c.739-99_739-98delinsTG	ENSP00000370118.4:n.739-99_739-98delinsTG
ENST00000380743.8:c.835-99_835-98delinsTG	ENSP00000370119.4:n.835-99_835-98delinsTG
ENST00000505346.5:n.301-99_301-98delinsTG
ENST00000506734.5:c.*59-597_*59-596delinsTG	ENSP00000424799.1:n.*59-597_*59-596delinsTG
ENST00000507458.2:c.89-99_89-98delinsTG
ENST00000511812.5:c.634-99_634-98delinsTG	ENSP00000424282.1:n.634-99_634-98delinsTG
ENST00000514914.1:n.376-99_376-98delinsTG
ENST00000614240.4:c.739-99_739-98delinsTG	ENSP00000479279.1:n.739-99_739-98delinsTG
ENST00000626847.2:c.835-597_835-596delinsTG	ENSP00000486152.1:n.835-597_835-596delinsTG
NM_017411.3:c.835-99_835-98delinsTG	NP_059107.1:n.835-99_835-98delinsTG
NM_022875.2:c.835-597_835-596delinsTG	NP_075013.1:n.835-597_835-596delinsTG
NM_022876.2:c.739-99_739-98delinsTG	NP_075014.1:n.739-99_739-98delinsTG
NM_022877.2:c.739-597_739-596delinsTG	NP_075015.1:n.739-597_739-596delinsTG
XM_011543600.1:c.634-99_634-98delinsTG	XP_011541902.1:n.634-99_634-98delinsTG
XM_011543601.1:c.634-597_634-596delinsTG	XP_011541903.1:n.634-597_634-596delinsTG
XM_011543602.1:c.538-99_538-98delinsTG	XP_011541904.1:n.538-99_538-98delinsTG
XM_011543603.1:c.538-597_538-596delinsTG	XP_011541905.1:n.538-597_538-596delinsTG
XR_948432.1:n.1054+88418_1054+88419delinsTG
XM_011543600.2:c.634-99_634-98delinsTG	XP_011541902.1:n.634-99_634-98delinsTG
XM_011543602.3:c.538-99_538-98delinsTG	XP_011541904.1:n.538-99_538-98delinsTG
XM_011543603.3:c.538-597_538-596delinsTG	XP_011541905.1:n.538-597_538-596delinsTG
NM_017411.4:c.835-99_835-98delinsTG MANE Select	NP_059107.1:n.835-99_835-98delinsTG
NM_022875.3:c.835-597_835-596delinsTG	NP_075013.1:n.835-597_835-596delinsTG