Canonical Allele Identifier: CA1554040934

Gene: SMN2

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.70049528_70049541delinsAATGTGGGAGGGCG , CM000667.2:g.70049528_70049541delinsAATGTGGGAGGGCG	GRCh38
NC_000005.9:g.69345355_69345368delinsAATGTGGGAGGGCG , CM000667.1:g.69345355_69345368delinsAATGTGGGAGGGCG	GRCh37
NC_000005.8:g.69381111_69381124delinsAATGTGGGAGGGCG	NCBI36
NG_008728.1:g.5006_5019delinsAATGTGGGAGGGCG

Transcript Alleles

HGVS	Amino-acid change
NM_017411.3:c.-158_-145delinsAATGTGGGAGGGCG	NP_059107.1:n.-158_-145delinsAATGTGGGAGGGCG
NM_022875.2:c.-158_-145delinsAATGTGGGAGGGCG	NP_075013.1:n.-158_-145delinsAATGTGGGAGGGCG
NM_022876.2:c.-158_-145delinsAATGTGGGAGGGCG	NP_075014.1:n.-158_-145delinsAATGTGGGAGGGCG
NM_022877.2:c.-158_-145delinsAATGTGGGAGGGCG	NP_075015.1:n.-158_-145delinsAATGTGGGAGGGCG
XR_948432.1:n.1054+61524_1054+61537delinsAATGTGGGAGGGCG