Canonical Allele Identifier: CA1077264307

Gene: SMN2

Linked Data

• gnomAD v3: 5-70070603-GTTTACTGGATATAAACAATATCTT-G
• gnomAD v4: 5-70070603-GTTTACTGGATATAAACAATATCTT-G

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.70070607_70070630del , CM000667.2:g.70070607_70070630del	GRCh38
NC_000005.9:g.69366434_69366457del , CM000667.1:g.69366434_69366457del	GRCh37
NC_000005.8:g.69402190_69402213del	NCBI36
NG_008728.1:g.26085_26108del

Transcript Alleles

HGVS	Amino-acid change
ENST00000380743.9:c.724-34_724-11del MANE Select	ENSP00000370119.4:n.724-34_724-11del
ENST00000638794.1:c.724-34_724-11del	ENSP00000492675.1:n.724-34_724-11del
ENST00000380741.8:c.724-34_724-11del	ENSP00000370117.5:n.724-34_724-11del
ENST00000380742.8:c.628-34_628-11del	ENSP00000370118.4:n.628-34_628-11del
ENST00000380743.8:c.724-34_724-11del	ENSP00000370119.4:n.724-34_724-11del
ENST00000503678.5:n.647-34_647-11del
ENST00000505346.5:n.190-34_190-11del
ENST00000506734.5:c.724-34_724-11del	ENSP00000424799.1:n.724-34_724-11del
ENST00000508258.1:n.99-34_99-11del
ENST00000509805.5:n.291-34_291-11del
ENST00000511812.5:c.523-34_523-11del	ENSP00000424282.1:n.523-34_523-11del
ENST00000511873.6:c.418-34_418-11del	ENSP00000475824.1:n.418-34_418-11del
ENST00000514914.1:n.265-34_265-11del
ENST00000614240.4:c.628-34_628-11del	ENSP00000479279.1:n.628-34_628-11del
ENST00000626847.2:c.724-34_724-11del	ENSP00000486152.1:n.724-34_724-11del
ENST00000628696.2:c.724-34_724-11del	ENSP00000486268.1:n.724-34_724-11del
NM_017411.3:c.724-34_724-11del	NP_059107.1:n.724-34_724-11del
NM_022875.2:c.724-34_724-11del	NP_075013.1:n.724-34_724-11del
NM_022876.2:c.628-34_628-11del	NP_075014.1:n.628-34_628-11del
NM_022877.2:c.628-34_628-11del	NP_075015.1:n.628-34_628-11del
XM_011543599.1:c.724-34_724-11del	XP_011541901.1:n.724-34_724-11del
XM_011543600.1:c.523-34_523-11del	XP_011541902.1:n.523-34_523-11del
XM_011543601.1:c.523-34_523-11del	XP_011541903.1:n.523-34_523-11del
XM_011543602.1:c.427-34_427-11del	XP_011541904.1:n.427-34_427-11del
XM_011543603.1:c.427-34_427-11del	XP_011541905.1:n.427-34_427-11del
XR_948432.1:n.1054+82603_1054+82626del
XM_011543600.2:c.523-34_523-11del	XP_011541902.1:n.523-34_523-11del
XM_011543602.3:c.427-34_427-11del	XP_011541904.1:n.427-34_427-11del
XM_011543603.3:c.427-34_427-11del	XP_011541905.1:n.427-34_427-11del
XM_017009787.1:c.724-34_724-11del	XP_016865276.1:n.724-34_724-11del
NM_017411.4:c.724-34_724-11del MANE Select	NP_059107.1:n.724-34_724-11del
NM_022875.3:c.724-34_724-11del	NP_075013.1:n.724-34_724-11del