Canonical Allele Identifier: CA444975829

Gene: SMN1

Linked Data

• ClinVar Variation Id: 2190592
• ClinVar RCV Id: RCV002628143 ; RCV003404110
• dbSNP Id: rs1179910122
• gnomAD v2: 5-70247788-AGAAG-A
• gnomAD v3: 5-70951961-AGAAG-A
• gnomAD v4: 5-70951961-AGAAG-A
• MyVariant Identifiers: chr5:g.70247789_70247792del (hg19) ; chr5:g.70951962_70951965del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.70951967_70951970del , CM000667.2:g.70951967_70951970del	GRCh38
NC_000005.9:g.70247794_70247797del , CM000667.1:g.70247794_70247797del	GRCh37
NC_000005.8:g.70283550_70283553del	NCBI36
NG_008691.1:g.32027_32030del , LRG_676:g.32027_32030del

Transcript Alleles

HGVS	Amino-acid change
ENST00000380707.9:c.861_864del MANE Select	ENSP00000370083.4:p.Arg288AlafsTer5
ENST00000351205.8:c.861_864del	ENSP00000305857.5:p.Arg288AlafsTer5
ENST00000380707.8:c.861_864del	ENSP00000370083.4:p.Arg288AlafsTer5
ENST00000503079.6:c.765_768del	ENSP00000428128.1:p.Arg256AlafsTer5
ENST00000506163.5:c.835-472_835-469del	ENSP00000424926.1:n.835-472_835-469del
ENST00000506239.6:c.*59-472_*59-469del	ENSP00000422679.2:n.*59-472_*59-469del
ENST00000510679.1:n.115_118del
ENST00000514951.5:c.660_663del	ENSP00000423298.1:p.Arg221AlafsTer5
NM_000344.3:c.861_864del , LRG_676t1:c.861_864del	NP_000335.1:p.Arg288AlafsTer5
NM_001297715.1:c.835-472_835-469del	NP_001284644.1:n.835-472_835-469del
NM_022874.2:c.765_768del	NP_075012.1:p.Arg256AlafsTer5
XM_011543597.1:c.660_663del	XP_011541899.1:p.Arg221AlafsTer5
XM_011543598.1:c.564_567del	XP_011541900.1:p.Arg189AlafsTer5
XM_011543598.3:c.564_567del	XP_011541900.1:p.Arg189AlafsTer5
XM_017009786.1:c.739-472_739-469del	XP_016865275.1:n.739-472_739-469del
NM_000344.4:c.861_864del MANE Select	NP_000335.1:p.Arg288AlafsTer5