Canonical Allele Identifier: CA1554172382

Gene: SMN1

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.70946348_70946352delinsTTTAG , CM000667.2:g.70946348_70946352delinsTTTAG	GRCh38
NC_000005.9:g.70242175_70242179delinsTTTAG , CM000667.1:g.70242175_70242179delinsTTTAG	GRCh37
NC_000005.8:g.70277931_70277935delinsTTTAG	NCBI36
NG_008691.1:g.26408_26412delinsTTTAG , LRG_676:g.26408_26412delinsTTTAG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000380707.9:c.834+172_834+176delinsTTTAG MANE Select	ENSP00000370083.4:n.834+172_834+176delinsTTTAG
ENST00000351205.8:c.834+172_834+176delinsTTTAG	ENSP00000305857.5:n.834+172_834+176delinsTTTAG
ENST00000380707.8:c.834+172_834+176delinsTTTAG	ENSP00000370083.4:n.834+172_834+176delinsTTTAG
ENST00000503079.6:c.738+172_738+176delinsTTTAG	ENSP00000428128.1:n.738+172_738+176delinsTTTAG
ENST00000506163.5:c.834+172_834+176delinsTTTAG	ENSP00000424926.1:n.834+172_834+176delinsTTTAG
ENST00000506239.6:c.834+172_834+176delinsTTTAG	ENSP00000422679.2:n.834+172_834+176delinsTTTAG
ENST00000510679.1:n.88+172_88+176delinsTTTAG
ENST00000514951.5:c.633+172_633+176delinsTTTAG	ENSP00000423298.1:n.633+172_633+176delinsTTTAG
ENST00000625245.2:c.834+172_834+176delinsTTTAG	ENSP00000486539.1:n.834+172_834+176delinsTTTAG
NM_000344.3:c.834+172_834+176delinsTTTAG , LRG_676t1:c.834+172_834+176delinsTTTAG	NP_000335.1:n.834+172_834+176delinsTTTAG
NM_001297715.1:c.834+172_834+176delinsTTTAG	NP_001284644.1:n.834+172_834+176delinsTTTAG
NM_022874.2:c.738+172_738+176delinsTTTAG	NP_075012.1:n.738+172_738+176delinsTTTAG
XM_011543596.1:c.834+172_834+176delinsTTTAG	XP_011541898.1:n.834+172_834+176delinsTTTAG
XM_011543597.1:c.633+172_633+176delinsTTTAG	XP_011541899.1:n.633+172_633+176delinsTTTAG
XM_011543598.1:c.537+172_537+176delinsTTTAG	XP_011541900.1:n.537+172_537+176delinsTTTAG
XM_011543598.3:c.537+172_537+176delinsTTTAG	XP_011541900.1:n.537+172_537+176delinsTTTAG
XM_017009786.1:c.738+172_738+176delinsTTTAG	XP_016865275.1:n.738+172_738+176delinsTTTAG
NM_000344.4:c.834+172_834+176delinsTTTAG MANE Select	NP_000335.1:n.834+172_834+176delinsTTTAG