Canonical Allele Identifier: CA1554172380

Gene: SMN1

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.70946343_70946353delinsATAATTTTAGT , CM000667.2:g.70946343_70946353delinsATAATTTTAGT	GRCh38
NC_000005.9:g.70242170_70242180delinsATAATTTTAGT , CM000667.1:g.70242170_70242180delinsATAATTTTAGT	GRCh37
NC_000005.8:g.70277926_70277936delinsATAATTTTAGT	NCBI36
NG_008691.1:g.26403_26413delinsATAATTTTAGT , LRG_676:g.26403_26413delinsATAATTTTAGT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000380707.9:c.834+167_834+177delinsATAATTTTAGT MANE Select	ENSP00000370083.4:n.834+167_834+177delinsATAATTTTAGT
ENST00000351205.8:c.834+167_834+177delinsATAATTTTAGT	ENSP00000305857.5:n.834+167_834+177delinsATAATTTTAGT
ENST00000380707.8:c.834+167_834+177delinsATAATTTTAGT	ENSP00000370083.4:n.834+167_834+177delinsATAATTTTAGT
ENST00000503079.6:c.738+167_738+177delinsATAATTTTAGT	ENSP00000428128.1:n.738+167_738+177delinsATAATTTTAGT
ENST00000506163.5:c.834+167_834+177delinsATAATTTTAGT	ENSP00000424926.1:n.834+167_834+177delinsATAATTTTAGT
ENST00000506239.6:c.834+167_834+177delinsATAATTTTAGT	ENSP00000422679.2:n.834+167_834+177delinsATAATTTTAGT
ENST00000510679.1:n.88+167_88+177delinsATAATTTTAGT
ENST00000514951.5:c.633+167_633+177delinsATAATTTTAGT	ENSP00000423298.1:n.633+167_633+177delinsATAATTTTAGT
ENST00000625245.2:c.834+167_834+177delinsATAATTTTAGT	ENSP00000486539.1:n.834+167_834+177delinsATAATTTTAGT
NM_000344.3:c.834+167_834+177delinsATAATTTTAGT , LRG_676t1:c.834+167_834+177delinsATAATTTTAGT	NP_000335.1:n.834+167_834+177delinsATAATTTTAGT
NM_001297715.1:c.834+167_834+177delinsATAATTTTAGT	NP_001284644.1:n.834+167_834+177delinsATAATTTTAGT
NM_022874.2:c.738+167_738+177delinsATAATTTTAGT	NP_075012.1:n.738+167_738+177delinsATAATTTTAGT
XM_011543596.1:c.834+167_834+177delinsATAATTTTAGT	XP_011541898.1:n.834+167_834+177delinsATAATTTTAGT
XM_011543597.1:c.633+167_633+177delinsATAATTTTAGT	XP_011541899.1:n.633+167_633+177delinsATAATTTTAGT
XM_011543598.1:c.537+167_537+177delinsATAATTTTAGT	XP_011541900.1:n.537+167_537+177delinsATAATTTTAGT
XM_011543598.3:c.537+167_537+177delinsATAATTTTAGT	XP_011541900.1:n.537+167_537+177delinsATAATTTTAGT
XM_017009786.1:c.738+167_738+177delinsATAATTTTAGT	XP_016865275.1:n.738+167_738+177delinsATAATTTTAGT
NM_000344.4:c.834+167_834+177delinsATAATTTTAGT MANE Select	NP_000335.1:n.834+167_834+177delinsATAATTTTAGT