Canonical Allele Identifier: CA1554174129

Gene: SMN1

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.70951961_70951965delinsAGAAG , CM000667.2:g.70951961_70951965delinsAGAAG	GRCh38
NC_000005.9:g.70247788_70247792delinsAGAAG , CM000667.1:g.70247788_70247792delinsAGAAG	GRCh37
NC_000005.8:g.70283544_70283548delinsAGAAG	NCBI36
NG_008691.1:g.32021_32025delinsAGAAG , LRG_676:g.32021_32025delinsAGAAG

Transcript Alleles

HGVS	Amino-acid change
ENST00000380707.9:c.855_859delinsAGAAG MANE Select	ENSP00000370083.4:p.Lys285=
ENST00000351205.8:c.855_859delinsAGAAG	ENSP00000305857.5:p.Lys285=
ENST00000380707.8:c.855_859delinsAGAAG	ENSP00000370083.4:p.Lys285=
ENST00000503079.6:c.759_763delinsAGAAG	ENSP00000428128.1:p.Lys253=
ENST00000506163.5:c.835-478_835-474delinsAGAAG	ENSP00000424926.1:n.835-478_835-474delinsAGAAG
ENST00000506239.6:c.*59-478_*59-474delinsAGAAG	ENSP00000422679.2:n.*59-478_*59-474delinsAGAAG
ENST00000510679.1:n.109_113delinsAGAAG
ENST00000514951.5:c.654_658delinsAGAAG	ENSP00000423298.1:p.Lys218=
NM_000344.3:c.855_859delinsAGAAG , LRG_676t1:c.855_859delinsAGAAG	NP_000335.1:p.Lys285=
NM_001297715.1:c.835-478_835-474delinsAGAAG	NP_001284644.1:n.835-478_835-474delinsAGAAG
NM_022874.2:c.759_763delinsAGAAG	NP_075012.1:p.Lys253=
XM_011543597.1:c.654_658delinsAGAAG	XP_011541899.1:p.Lys218=
XM_011543598.1:c.558_562delinsAGAAG	XP_011541900.1:p.Lys186=
XM_011543598.3:c.558_562delinsAGAAG	XP_011541900.1:p.Lys186=
XM_017009786.1:c.739-478_739-474delinsAGAAG	XP_016865275.1:n.739-478_739-474delinsAGAAG
NM_000344.4:c.855_859delinsAGAAG MANE Select	NP_000335.1:p.Lys285=