Canonical Allele Identifier: CA1554170620

Gene: SMN1

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.70925059_70925061delinsCTT , CM000667.2:g.70925059_70925061delinsCTT	GRCh38
NC_000005.9:g.70220886_70220888delinsCTT , CM000667.1:g.70220886_70220888delinsCTT	GRCh37
NC_000005.8:g.70256642_70256644delinsCTT	NCBI36
NG_008691.1:g.5119_5121delinsCTT , LRG_676:g.5119_5121delinsCTT

Transcript Alleles

HGVS	Amino-acid change
ENST00000380707.8:c.-45_-43delinsCTT	ENSP00000370083.4:n.-45_-43delinsCTT
ENST00000503079.6:c.-45_-43delinsCTT	ENSP00000428128.1:n.-45_-43delinsCTT
ENST00000514951.5:c.-45_-43delinsCTT	ENSP00000423298.1:n.-45_-43delinsCTT
NM_000344.3:c.-45_-43delinsCTT , LRG_676t1:c.-45_-43delinsCTT	NP_000335.1:n.-45_-43delinsCTT
NM_001297715.1:c.-45_-43delinsCTT	NP_001284644.1:n.-45_-43delinsCTT
NM_022874.2:c.-45_-43delinsCTT	NP_075012.1:n.-45_-43delinsCTT
XM_011543597.1:c.-45_-43delinsCTT	XP_011541899.1:n.-45_-43delinsCTT
XM_011543598.1:c.-45_-43delinsCTT	XP_011541900.1:n.-45_-43delinsCTT
XM_011543598.3:c.-45_-43delinsCTT	XP_011541900.1:n.-45_-43delinsCTT