Canonical Allele Identifier: CA2674142391

Gene: SMN2

Linked Data

• gnomAD v4: 5-70076728-ACT-A

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.70076729_70076730del , CM000667.2:g.70076729_70076730del	GRCh38
NC_000005.9:g.69372556_69372557del , CM000667.1:g.69372556_69372557del	GRCh37
NC_000005.8:g.69408312_69408313del	NCBI36
NG_008728.1:g.32207_32208del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000380743.9:c.*3+155_*3+156del MANE Select	ENSP00000370119.4:n.*3+155_*3+156del
ENST00000380742.8:c.*3+155_*3+156del	ENSP00000370118.4:n.*3+155_*3+156del
ENST00000380743.8:c.*3+155_*3+156del	ENSP00000370119.4:n.*3+155_*3+156del
ENST00000505346.5:n.509_510del
ENST00000506734.5:c.*59-290_*59-289del	ENSP00000424799.1:n.*59-290_*59-289del
ENST00000507458.2:c.142+155_142+156del
ENST00000514914.1:n.429+155_429+156del
ENST00000626847.2:c.835-290_835-289del	ENSP00000486152.1:n.835-290_835-289del
NM_017411.3:c.*3+155_*3+156del	NP_059107.1:n.*3+155_*3+156del
NM_022875.2:c.835-290_835-289del	NP_075013.1:n.835-290_835-289del
NM_022876.2:c.*3+155_*3+156del	NP_075014.1:n.*3+155_*3+156del
NM_022877.2:c.739-290_739-289del	NP_075015.1:n.739-290_739-289del
XM_011543600.1:c.*3+155_*3+156del	XP_011541902.1:n.*3+155_*3+156del
XM_011543601.1:c.634-290_634-289del	XP_011541903.1:n.634-290_634-289del
XM_011543602.1:c.*3+155_*3+156del	XP_011541904.1:n.*3+155_*3+156del
XM_011543603.1:c.538-290_538-289del	XP_011541905.1:n.538-290_538-289del
XR_948432.1:n.1054+88725_1054+88726del
XM_011543600.2:c.*3+155_*3+156del	XP_011541902.1:n.*3+155_*3+156del
XM_011543602.3:c.*3+155_*3+156del	XP_011541904.1:n.*3+155_*3+156del
XM_011543603.3:c.538-290_538-289del	XP_011541905.1:n.538-290_538-289del
NM_017411.4:c.*3+155_*3+156del MANE Select	NP_059107.1:n.*3+155_*3+156del
NM_022875.3:c.835-290_835-289del	NP_075013.1:n.835-290_835-289del