Canonical Allele Identifier: CA2740648066

Gene: SMN2

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.70049542_70049552del , CM000667.2:g.70049542_70049552del	GRCh38
NC_000005.9:g.69345369_69345379del , CM000667.1:g.69345369_69345379del	GRCh37
NC_000005.8:g.69381125_69381135del	NCBI36
NG_008728.1:g.5020_5030del

Transcript Alleles

HGVS	Amino-acid change
NM_017411.3:c.-144_-134del	NP_059107.1:n.-144_-134del
NM_022875.2:c.-144_-134del	NP_075013.1:n.-144_-134del
NM_022876.2:c.-144_-134del	NP_075014.1:n.-144_-134del
NM_022877.2:c.-144_-134del	NP_075015.1:n.-144_-134del
XR_948432.1:n.1054+61538_1054+61548del