Canonical Allele Identifier: CA2674142465
Gene: SMN2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.70076874_70076877del , CM000667.2:g.70076874_70076877del GRCh38
NC_000005.9:g.69372701_69372704del , CM000667.1:g.69372701_69372704del GRCh37
NC_000005.8:g.69408457_69408460del NCBI36
NG_008728.1:g.32352_32355del

Transcript Alleles

HGVS Amino-acid Change
ENST00000380743.9:c.*4-145_*4-142del MANE Select ENSP00000370119.4:n.*4-145_*4-142del
ENST00000380742.8:c.*4-145_*4-142del ENSP00000370118.4:n.*4-145_*4-142del
ENST00000380743.8:c.*4-145_*4-142del ENSP00000370119.4:n.*4-145_*4-142del
ENST00000505346.5:n.654_657del
ENST00000506734.5:c.*59-145_*59-142del ENSP00000424799.1:n.*59-145_*59-142del
ENST00000507458.2:c.143-145_143-142del
ENST00000514914.1:n.430-145_430-142del
ENST00000626847.2:c.835-145_835-142del ENSP00000486152.1:n.835-145_835-142del
NM_017411.3:c.*4-145_*4-142del NP_059107.1:n.*4-145_*4-142del
NM_022875.2:c.835-145_835-142del NP_075013.1:n.835-145_835-142del
NM_022876.2:c.*4-145_*4-142del NP_075014.1:n.*4-145_*4-142del
NM_022877.2:c.739-145_739-142del NP_075015.1:n.739-145_739-142del
XM_011543600.1:c.*4-145_*4-142del XP_011541902.1:n.*4-145_*4-142del
XM_011543601.1:c.634-145_634-142del XP_011541903.1:n.634-145_634-142del
XM_011543602.1:c.*4-145_*4-142del XP_011541904.1:n.*4-145_*4-142del
XM_011543603.1:c.538-145_538-142del XP_011541905.1:n.538-145_538-142del
XR_948432.1:n.1054+88870_1054+88873del
XM_011543600.2:c.*4-145_*4-142del XP_011541902.1:n.*4-145_*4-142del
XM_011543602.3:c.*4-145_*4-142del XP_011541904.1:n.*4-145_*4-142del
XM_011543603.3:c.538-145_538-142del XP_011541905.1:n.538-145_538-142del
NM_017411.4:c.*4-145_*4-142del MANE Select NP_059107.1:n.*4-145_*4-142del
NM_022875.3:c.835-145_835-142del NP_075013.1:n.835-145_835-142del