Canonical Allele Identifier: CA1139532856

Gene: SMN1

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.70942792del , CM000667.2:g.70942792del	GRCh38
NC_000005.9:g.70238619del , CM000667.1:g.70238619del	GRCh37
NC_000005.8:g.70274375del	NCBI36
NG_008691.1:g.22852del , LRG_676:g.22852del

Transcript Alleles

HGVS	Amino-acid Change
NM_000344.4:c.549del MANE Select	NP_000335.1:p.Lys184SerfsTer29
ENST00000380707.9:c.549del MANE Select	ENSP00000370083.4:p.Lys184SerfsTer29
NM_000344.3:c.549del , LRG_676t1:c.549del	NP_000335.1:p.Lys184SerfsTer29
NM_001297715.1:c.549del	NP_001284644.1:p.Lys184SerfsTer29
NM_022874.2:c.549del	NP_075012.1:p.Lys184SerfsTer27
ENST00000351205.8:c.549del	ENSP00000305857.5:p.Lys184SerfsTer29
ENST00000380707.8:c.549del	ENSP00000370083.4:p.Lys184SerfsTer29
ENST00000503079.6:c.549del	ENSP00000428128.1:p.Lys184SerfsTer27
ENST00000506163.5:c.549del	ENSP00000424926.1:p.Lys184SerfsTer29
ENST00000506239.6:c.549del	ENSP00000422679.2:p.Lys184SerfsTer29
ENST00000507905.6:c.126del	ENSP00000430657.1:p.Lys43SerfsTer?
ENST00000513228.1:n.116del
ENST00000514951.5:c.348del	ENSP00000423298.1:p.Lys117SerfsTer29
ENST00000518504.5:n.162del
ENST00000625245.2:c.549del	ENSP00000486539.1:p.Lys184SerfsTer29
XM_011543596.1:c.549del	XP_011541898.1:p.Lys184SerfsTer29
XM_011543597.1:c.348del	XP_011541899.1:p.Lys117SerfsTer29
XM_011543598.1:c.348del	XP_011541900.1:p.Lys117SerfsTer27
XM_011543598.3:c.348del	XP_011541900.1:p.Lys117SerfsTer27
XM_017009786.1:c.549del	XP_016865275.1:p.Lys184SerfsTer27