Canonical Allele Identifier: CA560282267

Gene: SMN1

Linked Data

• dbSNP Id: rs1211243201
• gnomAD v2: 5-70242175-TTTAG-T
• gnomAD v3: 5-70946348-TTTAG-T
• gnomAD v4: 5-70946348-TTTAG-T
• MyVariant Identifiers: chr5:g.70242176_70242179del (hg19) ; chr5:g.70946349_70946352del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.70946352_70946355del , CM000667.2:g.70946352_70946355del	GRCh38
NC_000005.9:g.70242179_70242182del , CM000667.1:g.70242179_70242182del	GRCh37
NC_000005.8:g.70277935_70277938del	NCBI36
NG_008691.1:g.26412_26415del , LRG_676:g.26412_26415del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000380707.9:c.834+176_834+179del MANE Select	ENSP00000370083.4:n.834+176_834+179del
ENST00000351205.8:c.834+176_834+179del	ENSP00000305857.5:n.834+176_834+179del
ENST00000380707.8:c.834+176_834+179del	ENSP00000370083.4:n.834+176_834+179del
ENST00000503079.6:c.738+176_738+179del	ENSP00000428128.1:n.738+176_738+179del
ENST00000506163.5:c.834+176_834+179del	ENSP00000424926.1:n.834+176_834+179del
ENST00000506239.6:c.834+176_834+179del	ENSP00000422679.2:n.834+176_834+179del
ENST00000510679.1:n.88+176_88+179del
ENST00000514951.5:c.633+176_633+179del	ENSP00000423298.1:n.633+176_633+179del
ENST00000625245.2:c.834+176_834+179del	ENSP00000486539.1:n.834+176_834+179del
NM_000344.3:c.834+176_834+179del , LRG_676t1:c.834+176_834+179del	NP_000335.1:n.834+176_834+179del
NM_001297715.1:c.834+176_834+179del	NP_001284644.1:n.834+176_834+179del
NM_022874.2:c.738+176_738+179del	NP_075012.1:n.738+176_738+179del
XM_011543596.1:c.834+176_834+179del	XP_011541898.1:n.834+176_834+179del
XM_011543597.1:c.633+176_633+179del	XP_011541899.1:n.633+176_633+179del
XM_011543598.1:c.537+176_537+179del	XP_011541900.1:n.537+176_537+179del
XM_011543598.3:c.537+176_537+179del	XP_011541900.1:n.537+176_537+179del
XM_017009786.1:c.738+176_738+179del	XP_016865275.1:n.738+176_738+179del
NM_000344.4:c.834+176_834+179del MANE Select	NP_000335.1:n.834+176_834+179del