Canonical Allele Identifier: CA2695204505

Gene: SMN2

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.70076524_70076526del , CM000667.2:g.70076524_70076526del	GRCh38
NC_000005.9:g.69372351_69372353del , CM000667.1:g.69372351_69372353del	GRCh37
NC_000005.8:g.69408107_69408109del	NCBI36
NG_008728.1:g.32002_32004del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000380743.9:c.838_840del MANE Select	ENSP00000370119.4:p.Phe280del
ENST00000380741.8:c.838_840del	ENSP00000370117.5:p.Phe280del
ENST00000380742.8:c.742_744del	ENSP00000370118.4:p.Phe248del
ENST00000380743.8:c.838_840del	ENSP00000370119.4:p.Phe280del
ENST00000505346.5:n.304_306del
ENST00000506734.5:c.*59-495_*59-493del	ENSP00000424799.1:n.*59-495_*59-493del
ENST00000507458.2:c.92_94del
ENST00000511812.5:c.637_639del	ENSP00000424282.1:p.Phe213del
ENST00000514914.1:n.379_381del
ENST00000614240.4:c.742_744del	ENSP00000479279.1:p.Phe248del
ENST00000626847.2:c.835-495_835-493del	ENSP00000486152.1:n.835-495_835-493del
NM_017411.3:c.838_840del	NP_059107.1:p.Phe280del
NM_022875.2:c.835-495_835-493del	NP_075013.1:n.835-495_835-493del
NM_022876.2:c.742_744del	NP_075014.1:p.Phe248del
NM_022877.2:c.739-495_739-493del	NP_075015.1:n.739-495_739-493del
XM_011543600.1:c.637_639del	XP_011541902.1:p.Phe213del
XM_011543601.1:c.634-495_634-493del	XP_011541903.1:n.634-495_634-493del
XM_011543602.1:c.541_543del	XP_011541904.1:p.Phe181del
XM_011543603.1:c.538-495_538-493del	XP_011541905.1:n.538-495_538-493del
XR_948432.1:n.1054+88520_1054+88522del
XM_011543600.2:c.637_639del	XP_011541902.1:p.Phe213del
XM_011543602.3:c.541_543del	XP_011541904.1:p.Phe181del
XM_011543603.3:c.538-495_538-493del	XP_011541905.1:n.538-495_538-493del
NM_017411.4:c.838_840del MANE Select	NP_059107.1:p.Phe280del
NM_022875.3:c.835-495_835-493del	NP_075013.1:n.835-495_835-493del