Canonical Allele Identifier: CA1554044329
Gene: SMN2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.70076529_70076535delinsACAAAAT , CM000667.2:g.70076529_70076535delinsACAAAAT GRCh38
NC_000005.9:g.69372356_69372362delinsACAAAAT , CM000667.1:g.69372356_69372362delinsACAAAAT GRCh37
NC_000005.8:g.69408112_69408118delinsACAAAAT NCBI36
NG_008728.1:g.32007_32013delinsACAAAAT

Transcript Alleles

HGVS Amino-acid Change
ENST00000380743.9:c.843_849delinsACAAAAT MANE Select ENSP00000370119.4:p.Arg281=
ENST00000380741.8:c.843_849delinsACAAAAT ENSP00000370117.5:p.Arg281=
ENST00000380742.8:c.747_753delinsACAAAAT ENSP00000370118.4:p.Arg249=
ENST00000380743.8:c.843_849delinsACAAAAT ENSP00000370119.4:p.Arg281=
ENST00000505346.5:n.309_315delinsACAAAAT
ENST00000506734.5:c.*59-490_*59-484delinsACAAAAT ENSP00000424799.1:n.*59-490_*59-484delinsACAAAAT
ENST00000507458.2:c.97_103delinsACAAAAT
ENST00000511812.5:c.642_648delinsACAAAAT ENSP00000424282.1:p.Arg214=
ENST00000514914.1:n.384_390delinsACAAAAT
ENST00000614240.4:c.747_753delinsACAAAAT ENSP00000479279.1:p.Arg249=
ENST00000626847.2:c.835-490_835-484delinsACAAAAT ENSP00000486152.1:n.835-490_835-484delinsACAAAAT
NM_017411.3:c.843_849delinsACAAAAT NP_059107.1:p.Arg281=
NM_022875.2:c.835-490_835-484delinsACAAAAT NP_075013.1:n.835-490_835-484delinsACAAAAT
NM_022876.2:c.747_753delinsACAAAAT NP_075014.1:p.Arg249=
NM_022877.2:c.739-490_739-484delinsACAAAAT NP_075015.1:n.739-490_739-484delinsACAAAAT
XM_011543600.1:c.642_648delinsACAAAAT XP_011541902.1:p.Arg214=
XM_011543601.1:c.634-490_634-484delinsACAAAAT XP_011541903.1:n.634-490_634-484delinsACAAAAT
XM_011543602.1:c.546_552delinsACAAAAT XP_011541904.1:p.Arg182=
XM_011543603.1:c.538-490_538-484delinsACAAAAT XP_011541905.1:n.538-490_538-484delinsACAAAAT
XR_948432.1:n.1054+88525_1054+88531delinsACAAAAT
XM_011543600.2:c.642_648delinsACAAAAT XP_011541902.1:p.Arg214=
XM_011543602.3:c.546_552delinsACAAAAT XP_011541904.1:p.Arg182=
XM_011543603.3:c.538-490_538-484delinsACAAAAT XP_011541905.1:n.538-490_538-484delinsACAAAAT
NM_017411.4:c.843_849delinsACAAAAT MANE Select NP_059107.1:p.Arg281=
NM_022875.3:c.835-490_835-484delinsACAAAAT NP_075013.1:n.835-490_835-484delinsACAAAAT