Canonical Allele Identifier: CA913189607

Gene: SMN1

Linked Data

• ClinVar Variation Id: 633422
• ClinVar RCV Id: RCV000781859
• dbSNP Id: rs1561503075

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.70951928del , CM000667.2:g.70951928del	GRCh38
NC_000005.9:g.70247755del , CM000667.1:g.70247755del	GRCh37
NC_000005.8:g.70283511del	NCBI36
NG_008691.1:g.31988del , LRG_676:g.31988del

Transcript Alleles

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