Canonical Allele Identifier: CA1554044454

Gene: SMN2

Linked Data

• dbSNP Id: rs1774773658
• gnomAD v4: 5-70076943-AGTTTAACTGGTGTCCACAGAGGACATG-A

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.70076954_70076980del , CM000667.2:g.70076954_70076980del	GRCh38
NC_000005.9:g.69372781_69372807del , CM000667.1:g.69372781_69372807del	GRCh37
NC_000005.8:g.69408537_69408563del	NCBI36
NG_008728.1:g.32432_32458del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000380743.9:c.*4-65_*4-39del MANE Select	ENSP00000370119.4:n.*4-65_*4-39del
ENST00000380742.8:c.*4-65_*4-39del	ENSP00000370118.4:n.*4-65_*4-39del
ENST00000380743.8:c.*4-65_*4-39del	ENSP00000370119.4:n.*4-65_*4-39del
ENST00000506734.5:c.*59-65_*59-39del	ENSP00000424799.1:n.*59-65_*59-39del
ENST00000507458.2:c.143-65_143-39del
ENST00000514914.1:n.430-65_430-39del
ENST00000626847.2:c.835-65_835-39del	ENSP00000486152.1:n.835-65_835-39del
NM_017411.3:c.*4-65_*4-39del	NP_059107.1:n.*4-65_*4-39del
NM_022875.2:c.835-65_835-39del	NP_075013.1:n.835-65_835-39del
NM_022876.2:c.*4-65_*4-39del	NP_075014.1:n.*4-65_*4-39del
NM_022877.2:c.739-65_739-39del	NP_075015.1:n.739-65_739-39del
XM_011543600.1:c.*4-65_*4-39del	XP_011541902.1:n.*4-65_*4-39del
XM_011543601.1:c.634-65_634-39del	XP_011541903.1:n.634-65_634-39del
XM_011543602.1:c.*4-65_*4-39del	XP_011541904.1:n.*4-65_*4-39del
XM_011543603.1:c.538-65_538-39del	XP_011541905.1:n.538-65_538-39del
XR_948432.1:n.1054+88950_1054+88976del
XM_011543600.2:c.*4-65_*4-39del	XP_011541902.1:n.*4-65_*4-39del
XM_011543602.3:c.*4-65_*4-39del	XP_011541904.1:n.*4-65_*4-39del
XM_011543603.3:c.538-65_538-39del	XP_011541905.1:n.538-65_538-39del
NM_017411.4:c.*4-65_*4-39del MANE Select	NP_059107.1:n.*4-65_*4-39del
NM_022875.3:c.835-65_835-39del	NP_075013.1:n.835-65_835-39del