Canonical Allele Identifier: CA1554174042

Gene: SMN1

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.70951818_70951823delinsGAATAA , CM000667.2:g.70951818_70951823delinsGAATAA	GRCh38
NC_000005.9:g.70247645_70247650delinsGAATAA , CM000667.1:g.70247645_70247650delinsGAATAA	GRCh37
NC_000005.8:g.70283401_70283406delinsGAATAA	NCBI36
NG_008691.1:g.31878_31883delinsGAATAA , LRG_676:g.31878_31883delinsGAATAA

Transcript Alleles

HGVS	Amino-acid change
ENST00000380707.9:c.835-123_835-118delinsGAATAA MANE Select	ENSP00000370083.4:n.835-123_835-118delinsGAATAA
ENST00000351205.8:c.835-123_835-118delinsGAATAA	ENSP00000305857.5:n.835-123_835-118delinsGAATAA
ENST00000380707.8:c.835-123_835-118delinsGAATAA	ENSP00000370083.4:n.835-123_835-118delinsGAATAA
ENST00000503079.6:c.739-123_739-118delinsGAATAA	ENSP00000428128.1:n.739-123_739-118delinsGAATAA
ENST00000506163.5:c.835-621_835-616delinsGAATAA	ENSP00000424926.1:n.835-621_835-616delinsGAATAA
ENST00000506239.6:c.*59-621_*59-616delinsGAATAA	ENSP00000422679.2:n.*59-621_*59-616delinsGAATAA
ENST00000510679.1:n.89-123_89-118delinsGAATAA
ENST00000514951.5:c.634-123_634-118delinsGAATAA	ENSP00000423298.1:n.634-123_634-118delinsGAATAA
NM_000344.3:c.835-123_835-118delinsGAATAA , LRG_676t1:c.835-123_835-118delinsGAATAA	NP_000335.1:n.835-123_835-118delinsGAATAA
NM_001297715.1:c.835-621_835-616delinsGAATAA	NP_001284644.1:n.835-621_835-616delinsGAATAA
NM_022874.2:c.739-123_739-118delinsGAATAA	NP_075012.1:n.739-123_739-118delinsGAATAA
XM_011543597.1:c.634-123_634-118delinsGAATAA	XP_011541899.1:n.634-123_634-118delinsGAATAA
XM_011543598.1:c.538-123_538-118delinsGAATAA	XP_011541900.1:n.538-123_538-118delinsGAATAA
XM_011543598.3:c.538-123_538-118delinsGAATAA	XP_011541900.1:n.538-123_538-118delinsGAATAA
XM_017009786.1:c.739-621_739-616delinsGAATAA	XP_016865275.1:n.739-621_739-616delinsGAATAA
NM_000344.4:c.835-123_835-118delinsGAATAA MANE Select	NP_000335.1:n.835-123_835-118delinsGAATAA