Canonical Allele Identifier: CA915943385

Gene: SMN1

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.70951968dup , CM000667.2:g.70951968dup	GRCh38
NC_000005.9:g.70247795dup , CM000667.1:g.70247795dup	GRCh37
NC_000005.8:g.70283551dup	NCBI36
NG_008691.1:g.32028dup , LRG_676:g.32028dup

Transcript Alleles

HGVS	Amino-acid Change
NM_000344.4:c.862dup MANE Select	NP_000335.1:p.Arg288LysfsTer18
ENST00000380707.9:c.862dup MANE Select	ENSP00000370083.4:p.Arg288LysfsTer18
NM_000344.3:c.862dup , LRG_676t1:c.862dup	NP_000335.1:p.Arg288LysfsTer18
NM_001297715.1:c.835-471dup	NP_001284644.1:n.835-471dup
NM_022874.2:c.766dup	NP_075012.1:p.Arg256LysfsTer18
ENST00000351205.8:c.862dup	ENSP00000305857.5:p.Arg288LysfsTer?
ENST00000380707.8:c.862dup	ENSP00000370083.4:p.Arg288LysfsTer18
ENST00000503079.6:c.766dup	ENSP00000428128.1:p.Arg256LysfsTer?
ENST00000506163.5:c.835-471dup	ENSP00000424926.1:n.835-471dup
ENST00000506239.6:c.*59-471dup	ENSP00000422679.2:n.*59-471dup
ENST00000510679.1:n.116dup
ENST00000514951.5:c.661dup	ENSP00000423298.1:p.Arg221LysfsTer?
XM_011543597.1:c.661dup	XP_011541899.1:p.Arg221LysfsTer18
XM_011543598.1:c.565dup	XP_011541900.1:p.Arg189LysfsTer18
XM_011543598.3:c.565dup	XP_011541900.1:p.Arg189LysfsTer18
XM_017009786.1:c.739-471dup	XP_016865275.1:n.739-471dup