Canonical Allele Identifier: CA645372410

Gene: SMN1

Linked Data

• ClinVar Variation Id: 431179
• ClinVar RCV Id: RCV000496588
• dbSNP Id: rs1554082110
• MyVariant Identifiers: chr5:g.70241893_70242003del (hg19) ; chr5:g.70946066_70946176del (hg38)
• PubMed: PMID:10369311 ; PMID:22750651 ; PMID:22975760

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.70946066_70946176del , CM000667.2:g.70946066_70946176del	GRCh38
NC_000005.9:g.70241893_70242003del , CM000667.1:g.70241893_70242003del	GRCh37
NC_000005.8:g.70277649_70277759del	NCBI36
NG_008691.1:g.26126_26236del , LRG_676:g.26126_26236del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000380707.9:c.724_834del
ENST00000351205.8:c.724_834del
ENST00000380707.8:c.724_834del
ENST00000503079.6:c.628_738del
ENST00000506163.5:c.724_834del
ENST00000506239.6:c.724_834del
ENST00000513228.1:n.291_401del
ENST00000514951.5:c.523_633del
ENST00000518504.5:n.241_351del
ENST00000625245.2:c.724_834del
NM_000344.3:c.724_834del , LRG_676t1:c.724_834del
NM_001297715.1:c.724_834del
NM_022874.2:c.628_738del
XM_011543596.1:c.724_834del
XM_011543597.1:c.523_633del
XM_011543598.1:c.427_537del
XM_011543598.3:c.427_537del
XM_017009786.1:c.628_738del
NM_000344.4:c.724_834del