Canonical Allele Identifier: CA1554044283

Gene: SMN2

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.70076414_70076419delinsATGTCT , CM000667.2:g.70076414_70076419delinsATGTCT	GRCh38
NC_000005.9:g.69372241_69372246delinsATGTCT , CM000667.1:g.69372241_69372246delinsATGTCT	GRCh37
NC_000005.8:g.69407997_69408002delinsATGTCT	NCBI36
NG_008728.1:g.31892_31897delinsATGTCT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000380743.9:c.835-107_835-102delinsATGTCT MANE Select	ENSP00000370119.4:n.835-107_835-102delinsATGTCT
ENST00000380741.8:c.835-107_835-102delinsATGTCT	ENSP00000370117.5:n.835-107_835-102delinsATGTCT
ENST00000380742.8:c.739-107_739-102delinsATGTCT	ENSP00000370118.4:n.739-107_739-102delinsATGTCT
ENST00000380743.8:c.835-107_835-102delinsATGTCT	ENSP00000370119.4:n.835-107_835-102delinsATGTCT
ENST00000505346.5:n.301-107_301-102delinsATGTCT
ENST00000506734.5:c.*59-605_*59-600delinsATGTCT	ENSP00000424799.1:n.*59-605_*59-600delinsATGTCT
ENST00000507458.2:c.89-107_89-102delinsATGTCT
ENST00000511812.5:c.634-107_634-102delinsATGTCT	ENSP00000424282.1:n.634-107_634-102delinsATGTCT
ENST00000514914.1:n.376-107_376-102delinsATGTCT
ENST00000614240.4:c.739-107_739-102delinsATGTCT	ENSP00000479279.1:n.739-107_739-102delinsATGTCT
ENST00000626847.2:c.835-605_835-600delinsATGTCT	ENSP00000486152.1:n.835-605_835-600delinsATGTCT
NM_017411.3:c.835-107_835-102delinsATGTCT	NP_059107.1:n.835-107_835-102delinsATGTCT
NM_022875.2:c.835-605_835-600delinsATGTCT	NP_075013.1:n.835-605_835-600delinsATGTCT
NM_022876.2:c.739-107_739-102delinsATGTCT	NP_075014.1:n.739-107_739-102delinsATGTCT
NM_022877.2:c.739-605_739-600delinsATGTCT	NP_075015.1:n.739-605_739-600delinsATGTCT
XM_011543600.1:c.634-107_634-102delinsATGTCT	XP_011541902.1:n.634-107_634-102delinsATGTCT
XM_011543601.1:c.634-605_634-600delinsATGTCT	XP_011541903.1:n.634-605_634-600delinsATGTCT
XM_011543602.1:c.538-107_538-102delinsATGTCT	XP_011541904.1:n.538-107_538-102delinsATGTCT
XM_011543603.1:c.538-605_538-600delinsATGTCT	XP_011541905.1:n.538-605_538-600delinsATGTCT
XR_948432.1:n.1054+88410_1054+88415delinsATGTCT
XM_011543600.2:c.634-107_634-102delinsATGTCT	XP_011541902.1:n.634-107_634-102delinsATGTCT
XM_011543602.3:c.538-107_538-102delinsATGTCT	XP_011541904.1:n.538-107_538-102delinsATGTCT
XM_011543603.3:c.538-605_538-600delinsATGTCT	XP_011541905.1:n.538-605_538-600delinsATGTCT
NM_017411.4:c.835-107_835-102delinsATGTCT MANE Select	NP_059107.1:n.835-107_835-102delinsATGTCT
NM_022875.3:c.835-605_835-600delinsATGTCT	NP_075013.1:n.835-605_835-600delinsATGTCT