Canonical Allele Identifier: CA1554174043

Gene: SMN1

Linked Data

• dbSNP Id: rs1749758707

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.70951824_70951828del , CM000667.2:g.70951824_70951828del	GRCh38
NC_000005.9:g.70247651_70247655del , CM000667.1:g.70247651_70247655del	GRCh37
NC_000005.8:g.70283407_70283411del	NCBI36
NG_008691.1:g.31884_31888del , LRG_676:g.31884_31888del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000380707.9:c.835-117_835-113del MANE Select	ENSP00000370083.4:n.835-117_835-113del
ENST00000351205.8:c.835-117_835-113del	ENSP00000305857.5:n.835-117_835-113del
ENST00000380707.8:c.835-117_835-113del	ENSP00000370083.4:n.835-117_835-113del
ENST00000503079.6:c.739-117_739-113del	ENSP00000428128.1:n.739-117_739-113del
ENST00000506163.5:c.835-615_835-611del	ENSP00000424926.1:n.835-615_835-611del
ENST00000506239.6:c.*59-615_*59-611del	ENSP00000422679.2:n.*59-615_*59-611del
ENST00000510679.1:n.89-117_89-113del
ENST00000514951.5:c.634-117_634-113del	ENSP00000423298.1:n.634-117_634-113del
NM_000344.3:c.835-117_835-113del , LRG_676t1:c.835-117_835-113del	NP_000335.1:n.835-117_835-113del
NM_001297715.1:c.835-615_835-611del	NP_001284644.1:n.835-615_835-611del
NM_022874.2:c.739-117_739-113del	NP_075012.1:n.739-117_739-113del
XM_011543597.1:c.634-117_634-113del	XP_011541899.1:n.634-117_634-113del
XM_011543598.1:c.538-117_538-113del	XP_011541900.1:n.538-117_538-113del
XM_011543598.3:c.538-117_538-113del	XP_011541900.1:n.538-117_538-113del
XM_017009786.1:c.739-615_739-611del	XP_016865275.1:n.739-615_739-611del
NM_000344.4:c.835-117_835-113del MANE Select	NP_000335.1:n.835-117_835-113del