Canonical Allele Identifier: CA2674142492

Gene: SMN2

Linked Data

• gnomAD v4: 5-70076923-CAT-C

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.70076926_70076927del , CM000667.2:g.70076926_70076927del	GRCh38
NC_000005.9:g.69372753_69372754del , CM000667.1:g.69372753_69372754del	GRCh37
NC_000005.8:g.69408509_69408510del	NCBI36
NG_008728.1:g.32404_32405del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000380743.9:c.*4-93_*4-92del MANE Select	ENSP00000370119.4:n.*4-93_*4-92del
ENST00000380742.8:c.*4-93_*4-92del	ENSP00000370118.4:n.*4-93_*4-92del
ENST00000380743.8:c.*4-93_*4-92del	ENSP00000370119.4:n.*4-93_*4-92del
ENST00000505346.5:n.706_707del
ENST00000506734.5:c.*59-93_*59-92del	ENSP00000424799.1:n.*59-93_*59-92del
ENST00000507458.2:c.143-93_143-92del
ENST00000514914.1:n.430-93_430-92del
ENST00000626847.2:c.835-93_835-92del	ENSP00000486152.1:n.835-93_835-92del
NM_017411.3:c.*4-93_*4-92del	NP_059107.1:n.*4-93_*4-92del
NM_022875.2:c.835-93_835-92del	NP_075013.1:n.835-93_835-92del
NM_022876.2:c.*4-93_*4-92del	NP_075014.1:n.*4-93_*4-92del
NM_022877.2:c.739-93_739-92del	NP_075015.1:n.739-93_739-92del
XM_011543600.1:c.*4-93_*4-92del	XP_011541902.1:n.*4-93_*4-92del
XM_011543601.1:c.634-93_634-92del	XP_011541903.1:n.634-93_634-92del
XM_011543602.1:c.*4-93_*4-92del	XP_011541904.1:n.*4-93_*4-92del
XM_011543603.1:c.538-93_538-92del	XP_011541905.1:n.538-93_538-92del
XR_948432.1:n.1054+88922_1054+88923del
XM_011543600.2:c.*4-93_*4-92del	XP_011541902.1:n.*4-93_*4-92del
XM_011543602.3:c.*4-93_*4-92del	XP_011541904.1:n.*4-93_*4-92del
XM_011543603.3:c.538-93_538-92del	XP_011541905.1:n.538-93_538-92del
NM_017411.4:c.*4-93_*4-92del MANE Select	NP_059107.1:n.*4-93_*4-92del
NM_022875.3:c.835-93_835-92del	NP_075013.1:n.835-93_835-92del