Canonical Allele Identifier: CA1554174037

Gene: SMN1

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.70951810_70951811delinsAT , CM000667.2:g.70951810_70951811delinsAT	GRCh38
NC_000005.9:g.70247637_70247638delinsAT , CM000667.1:g.70247637_70247638delinsAT	GRCh37
NC_000005.8:g.70283393_70283394delinsAT	NCBI36
NG_008691.1:g.31870_31871delinsAT , LRG_676:g.31870_31871delinsAT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000380707.9:c.835-131_835-130delinsAT MANE Select	ENSP00000370083.4:n.835-131_835-130delinsAT
ENST00000351205.8:c.835-131_835-130delinsAT	ENSP00000305857.5:n.835-131_835-130delinsAT
ENST00000380707.8:c.835-131_835-130delinsAT	ENSP00000370083.4:n.835-131_835-130delinsAT
ENST00000503079.6:c.739-131_739-130delinsAT	ENSP00000428128.1:n.739-131_739-130delinsAT
ENST00000506163.5:c.835-629_835-628delinsAT	ENSP00000424926.1:n.835-629_835-628delinsAT
ENST00000506239.6:c.*59-629_*59-628delinsAT	ENSP00000422679.2:n.*59-629_*59-628delinsAT
ENST00000510679.1:n.89-131_89-130delinsAT
ENST00000514951.5:c.634-131_634-130delinsAT	ENSP00000423298.1:n.634-131_634-130delinsAT
NM_000344.3:c.835-131_835-130delinsAT , LRG_676t1:c.835-131_835-130delinsAT	NP_000335.1:n.835-131_835-130delinsAT
NM_001297715.1:c.835-629_835-628delinsAT	NP_001284644.1:n.835-629_835-628delinsAT
NM_022874.2:c.739-131_739-130delinsAT	NP_075012.1:n.739-131_739-130delinsAT
XM_011543597.1:c.634-131_634-130delinsAT	XP_011541899.1:n.634-131_634-130delinsAT
XM_011543598.1:c.538-131_538-130delinsAT	XP_011541900.1:n.538-131_538-130delinsAT
XM_011543598.3:c.538-131_538-130delinsAT	XP_011541900.1:n.538-131_538-130delinsAT
XM_017009786.1:c.739-629_739-628delinsAT	XP_016865275.1:n.739-629_739-628delinsAT
NM_000344.4:c.835-131_835-130delinsAT MANE Select	NP_000335.1:n.835-131_835-130delinsAT