Canonical Allele Identifier: CA1077270946

Gene: SMN2

Linked Data

• dbSNP Id: rs942673049
• gnomAD v3: 5-70076869-CTTTTTT-C
• gnomAD v4: 5-70076869-CTTTTTT-C

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.70076872_70076877del , CM000667.2:g.70076872_70076877del	GRCh38
NC_000005.9:g.69372699_69372704del , CM000667.1:g.69372699_69372704del	GRCh37
NC_000005.8:g.69408455_69408460del	NCBI36
NG_008728.1:g.32350_32355del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000380743.9:c.*4-147_*4-142del MANE Select	ENSP00000370119.4:n.*4-147_*4-142del
ENST00000380742.8:c.*4-147_*4-142del	ENSP00000370118.4:n.*4-147_*4-142del
ENST00000380743.8:c.*4-147_*4-142del	ENSP00000370119.4:n.*4-147_*4-142del
ENST00000505346.5:n.652_657del
ENST00000506734.5:c.*59-147_*59-142del	ENSP00000424799.1:n.*59-147_*59-142del
ENST00000507458.2:c.143-147_143-142del
ENST00000514914.1:n.430-147_430-142del
ENST00000626847.2:c.835-147_835-142del	ENSP00000486152.1:n.835-147_835-142del
NM_017411.3:c.*4-147_*4-142del	NP_059107.1:n.*4-147_*4-142del
NM_022875.2:c.835-147_835-142del	NP_075013.1:n.835-147_835-142del
NM_022876.2:c.*4-147_*4-142del	NP_075014.1:n.*4-147_*4-142del
NM_022877.2:c.739-147_739-142del	NP_075015.1:n.739-147_739-142del
XM_011543600.1:c.*4-147_*4-142del	XP_011541902.1:n.*4-147_*4-142del
XM_011543601.1:c.634-147_634-142del	XP_011541903.1:n.634-147_634-142del
XM_011543602.1:c.*4-147_*4-142del	XP_011541904.1:n.*4-147_*4-142del
XM_011543603.1:c.538-147_538-142del	XP_011541905.1:n.538-147_538-142del
XR_948432.1:n.1054+88868_1054+88873del
XM_011543600.2:c.*4-147_*4-142del	XP_011541902.1:n.*4-147_*4-142del
XM_011543602.3:c.*4-147_*4-142del	XP_011541904.1:n.*4-147_*4-142del
XM_011543603.3:c.538-147_538-142del	XP_011541905.1:n.538-147_538-142del
NM_017411.4:c.*4-147_*4-142del MANE Select	NP_059107.1:n.*4-147_*4-142del
NM_022875.3:c.835-147_835-142del	NP_075013.1:n.835-147_835-142del