Canonical Allele Identifier: CA2739289771

Gene: SMN1

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.70942506_70942512del , CM000667.2:g.70942506_70942512del	GRCh38
NC_000005.9:g.70238333_70238339del , CM000667.1:g.70238333_70238339del	GRCh37
NC_000005.8:g.70274089_70274095del	NCBI36
NG_008691.1:g.22566_22572del , LRG_676:g.22566_22572del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000380707.9:c.422_428del MANE Select	ENSP00000370083.4:p.Leu141ProfsTer6
ENST00000351205.8:c.422_428del	ENSP00000305857.5:p.Leu141ProfsTer6
ENST00000380707.8:c.422_428del	ENSP00000370083.4:p.Leu141ProfsTer6
ENST00000503079.6:c.422_428del	ENSP00000428128.1:p.Leu141ProfsTer6
ENST00000506163.5:c.422_428del	ENSP00000424926.1:p.Leu141ProfsTer6
ENST00000506239.6:c.422_428del	ENSP00000422679.2:p.Leu141ProfsTer6
ENST00000514951.5:c.274-212_274-206del	ENSP00000423298.1:n.274-212_274-206del
ENST00000518504.5:n.35_41del
ENST00000625245.2:c.422_428del	ENSP00000486539.1:p.Leu141ProfsTer6
NM_000344.3:c.422_428del , LRG_676t1:c.422_428del	NP_000335.1:p.Leu141ProfsTer6
NM_001297715.1:c.422_428del	NP_001284644.1:p.Leu141ProfsTer6
NM_022874.2:c.422_428del	NP_075012.1:p.Leu141ProfsTer6
XM_011543596.1:c.422_428del	XP_011541898.1:p.Leu141ProfsTer6
XM_011543597.1:c.274-212_274-206del	XP_011541899.1:n.274-212_274-206del
XM_011543598.1:c.274-212_274-206del	XP_011541900.1:n.274-212_274-206del
XM_011543598.3:c.274-212_274-206del	XP_011541900.1:n.274-212_274-206del
XM_017009786.1:c.422_428del	XP_016865275.1:p.Leu141ProfsTer6
NM_000344.4:c.422_428del MANE Select	NP_000335.1:p.Leu141ProfsTer6