Canonical Allele Identifier: CA1139658875
Gene: SMN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 973541
ClinVar RCV Id: RCV001250171

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.70946066_70951991del , CM000667.2:g.70946066_70951991del GRCh38
NC_000005.9:g.70241893_70247818del , CM000667.1:g.70241893_70247818del GRCh37
NC_000005.8:g.70277649_70283574del NCBI36
NG_008691.1:g.26126_32051del , LRG_676:g.26126_32051del

Transcript Alleles

HGVS Amino-acid change
ENST00000380707.9:c.724_885del
ENST00000351205.8:c.724_885del
ENST00000380707.8:c.724_885del
ENST00000503079.6:c.628_789del
ENST00000506163.5:c.724_835-448del
ENST00000506239.6:c.724_*59-448del
ENST00000514951.5:c.523_684del
NM_000344.3:c.724_885del , LRG_676t1:c.724_885del
NM_001297715.1:c.724_835-448del
NM_022874.2:c.628_789del
XM_011543597.1:c.523_684del
XM_011543598.1:c.427_588del
XM_011543598.3:c.427_588del
XM_017009786.1:c.628_739-448del
NM_000344.4:c.724_885del