Canonical Allele Identifier: CA891843196

Gene: SMN1

Linked Data

• ClinVar Variation Id: 571461
• ClinVar RCV Id: RCV000692613
• dbSNP Id: rs1561503058
• MyVariant Identifiers: chr5:g.70247747_70247838del (hg19) ; chr5:g.70951920_70952011del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.70951920_70952011del , CM000667.2:g.70951920_70952011del	GRCh38
NC_000005.9:g.70247747_70247838del , CM000667.1:g.70247747_70247838del	GRCh37
NC_000005.8:g.70283503_70283594del	NCBI36
NG_008691.1:g.31980_32071del , LRG_676:g.31980_32071del

Transcript Alleles

HGVS	Amino-acid change
ENST00000380707.9:c.835-21_*3+17del
ENST00000380707.8:c.835-21_*3+17del
ENST00000503079.6:c.739-21_*20del
ENST00000506163.5:c.835-519_835-428del	ENSP00000424926.1:n.835-519_835-428del
ENST00000506239.6:c.*59-519_*59-428del	ENSP00000422679.2:n.*59-519_*59-428del
ENST00000510679.1:n.89-21_142+17del
ENST00000514951.5:c.634-21_*20del
NM_000344.3:c.835-21_*3+17del , LRG_676t1:c.835-21_*3+17del
NM_001297715.1:c.835-519_835-428del	NP_001284644.1:n.835-519_835-428del
NM_022874.2:c.739-21_*3+17del
XM_011543597.1:c.634-21_*3+17del
XM_011543598.1:c.538-21_*3+17del
XM_011543598.3:c.538-21_*3+17del
XM_017009786.1:c.739-519_739-428del	XP_016865275.1:n.739-519_739-428del
NM_000344.4:c.835-21_*3+17del