Canonical Allele Identifier: CA915943371

Gene: SMN1

Linked Data

• ClinVar Variation Id: 692109
• ClinVar RCV Id: RCV000853407

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.70936291_70945268del , CM000667.2:g.70936291_70945268del	GRCh38
NC_000005.9:g.70232118_70241095del , CM000667.1:g.70232118_70241095del	GRCh37
NC_000005.8:g.70267874_70276851del	NCBI36
NG_008691.1:g.16351_25328del , LRG_676:g.16351_25328del

Transcript Alleles

HGVS	Amino-acid change
ENST00000380707.9:c.82-2548_723+515del
ENST00000351205.8:c.82-2548_723+515del
ENST00000380707.8:c.82-2548_723+515del
ENST00000503079.6:c.82-2548_628-798del
ENST00000506163.5:c.82-2548_723+515del
ENST00000506239.6:c.82-2548_723+515del
ENST00000514951.5:c.82-2548_522+515del
ENST00000625245.2:c.82-2548_723+515del
NM_000344.3:c.82-2548_723+515del , LRG_676t1:c.82-2548_723+515del
NM_001297715.1:c.82-2548_723+515del
NM_022874.2:c.82-2548_628-798del
XM_011543596.1:c.82-2548_723+515del
XM_011543597.1:c.82-2548_522+515del
XM_011543598.1:c.82-2548_427-798del
XM_011543598.3:c.82-2548_427-798del
XM_017009786.1:c.82-2548_628-798del
NM_000344.4:c.82-2548_723+515del