Canonical Allele Identifier: CA2674142382

Gene: SMN2

Linked Data

• gnomAD v4: 5-70076708-TAAAG-T

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.70076711_70076714del , CM000667.2:g.70076711_70076714del	GRCh38
NC_000005.9:g.69372538_69372541del , CM000667.1:g.69372538_69372541del	GRCh37
NC_000005.8:g.69408294_69408297del	NCBI36
NG_008728.1:g.32189_32192del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000380743.9:c.*3+137_*3+140del MANE Select	ENSP00000370119.4:n.*3+137_*3+140del
ENST00000380742.8:c.*3+137_*3+140del	ENSP00000370118.4:n.*3+137_*3+140del
ENST00000380743.8:c.*3+137_*3+140del	ENSP00000370119.4:n.*3+137_*3+140del
ENST00000505346.5:n.491_494del
ENST00000506734.5:c.*59-308_*59-305del	ENSP00000424799.1:n.*59-308_*59-305del
ENST00000507458.2:c.142+137_142+140del
ENST00000514914.1:n.429+137_429+140del
ENST00000626847.2:c.835-308_835-305del	ENSP00000486152.1:n.835-308_835-305del
NM_017411.3:c.*3+137_*3+140del	NP_059107.1:n.*3+137_*3+140del
NM_022875.2:c.835-308_835-305del	NP_075013.1:n.835-308_835-305del
NM_022876.2:c.*3+137_*3+140del	NP_075014.1:n.*3+137_*3+140del
NM_022877.2:c.739-308_739-305del	NP_075015.1:n.739-308_739-305del
XM_011543600.1:c.*3+137_*3+140del	XP_011541902.1:n.*3+137_*3+140del
XM_011543601.1:c.634-308_634-305del	XP_011541903.1:n.634-308_634-305del
XM_011543602.1:c.*3+137_*3+140del	XP_011541904.1:n.*3+137_*3+140del
XM_011543603.1:c.538-308_538-305del	XP_011541905.1:n.538-308_538-305del
XR_948432.1:n.1054+88707_1054+88710del
XM_011543600.2:c.*3+137_*3+140del	XP_011541902.1:n.*3+137_*3+140del
XM_011543602.3:c.*3+137_*3+140del	XP_011541904.1:n.*3+137_*3+140del
XM_011543603.3:c.538-308_538-305del	XP_011541905.1:n.538-308_538-305del
NM_017411.4:c.*3+137_*3+140del MANE Select	NP_059107.1:n.*3+137_*3+140del
NM_022875.3:c.835-308_835-305del	NP_075013.1:n.835-308_835-305del