Canonical Allele Identifier: CA2695204560

Gene: SMN1

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.70946086del , CM000667.2:g.70946086del	GRCh38
NC_000005.9:g.70241913del , CM000667.1:g.70241913del	GRCh37
NC_000005.8:g.70277669del	NCBI36
NG_008691.1:g.26146del , LRG_676:g.26146del

Transcript Alleles

HGVS	Amino-acid change
ENST00000380707.9:c.744del MANE Select	ENSP00000370083.4:p.Ile249TyrfsTer16
ENST00000351205.8:c.744del	ENSP00000305857.5:p.Ile249TyrfsTer16
ENST00000380707.8:c.744del	ENSP00000370083.4:p.Ile249TyrfsTer16
ENST00000503079.6:c.648del	ENSP00000428128.1:p.Ile217TyrfsTer16
ENST00000506163.5:c.744del	ENSP00000424926.1:p.Ile249TyrfsTer16
ENST00000506239.6:c.744del	ENSP00000422679.2:p.Ile249TyrfsTer16
ENST00000513228.1:n.311del
ENST00000514951.5:c.543del	ENSP00000423298.1:p.Ile182TyrfsTer16
ENST00000518504.5:n.261del
ENST00000625245.2:c.744del	ENSP00000486539.1:p.Ile249TyrfsTer16
NM_000344.3:c.744del , LRG_676t1:c.744del	NP_000335.1:p.Ile249TyrfsTer16
NM_001297715.1:c.744del	NP_001284644.1:p.Ile249TyrfsTer16
NM_022874.2:c.648del	NP_075012.1:p.Ile217TyrfsTer16
XM_011543596.1:c.744del	XP_011541898.1:p.Ile249TyrfsTer16
XM_011543597.1:c.543del	XP_011541899.1:p.Ile182TyrfsTer16
XM_011543598.1:c.447del	XP_011541900.1:p.Ile150TyrfsTer16
XM_011543598.3:c.447del	XP_011541900.1:p.Ile150TyrfsTer16
XM_017009786.1:c.648del	XP_016865275.1:p.Ile217TyrfsTer16
NM_000344.4:c.744del MANE Select	NP_000335.1:p.Ile249TyrfsTer16