Canonical Allele Identifier: CA1554174107

Gene: SMN1

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.70951927_70951928delinsTA , CM000667.2:g.70951927_70951928delinsTA	GRCh38
NC_000005.9:g.70247754_70247755delinsTA , CM000667.1:g.70247754_70247755delinsTA	GRCh37
NC_000005.8:g.70283510_70283511delinsTA	NCBI36
NG_008691.1:g.31987_31988delinsTA , LRG_676:g.31987_31988delinsTA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000380707.9:c.835-14_835-13delinsTA MANE Select	ENSP00000370083.4:n.835-14_835-13delinsTA
ENST00000351205.8:c.835-14_835-13delinsTA	ENSP00000305857.5:n.835-14_835-13delinsTA
ENST00000380707.8:c.835-14_835-13delinsTA	ENSP00000370083.4:n.835-14_835-13delinsTA
ENST00000503079.6:c.739-14_739-13delinsTA	ENSP00000428128.1:n.739-14_739-13delinsTA
ENST00000506163.5:c.835-512_835-511delinsTA	ENSP00000424926.1:n.835-512_835-511delinsTA
ENST00000506239.6:c.*59-512_*59-511delinsTA	ENSP00000422679.2:n.*59-512_*59-511delinsTA
ENST00000510679.1:n.89-14_89-13delinsTA
ENST00000514951.5:c.634-14_634-13delinsTA	ENSP00000423298.1:n.634-14_634-13delinsTA
NM_000344.3:c.835-14_835-13delinsTA , LRG_676t1:c.835-14_835-13delinsTA	NP_000335.1:n.835-14_835-13delinsTA
NM_001297715.1:c.835-512_835-511delinsTA	NP_001284644.1:n.835-512_835-511delinsTA
NM_022874.2:c.739-14_739-13delinsTA	NP_075012.1:n.739-14_739-13delinsTA
XM_011543597.1:c.634-14_634-13delinsTA	XP_011541899.1:n.634-14_634-13delinsTA
XM_011543598.1:c.538-14_538-13delinsTA	XP_011541900.1:n.538-14_538-13delinsTA
XM_011543598.3:c.538-14_538-13delinsTA	XP_011541900.1:n.538-14_538-13delinsTA
XM_017009786.1:c.739-512_739-511delinsTA	XP_016865275.1:n.739-512_739-511delinsTA
NM_000344.4:c.835-14_835-13delinsTA MANE Select	NP_000335.1:n.835-14_835-13delinsTA