Canonical Allele Identifier: CA1554040951

Gene: SMN2

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.70049558_70049560delinsAGC , CM000667.2:g.70049558_70049560delinsAGC	GRCh38
NC_000005.9:g.69345385_69345387delinsAGC , CM000667.1:g.69345385_69345387delinsAGC	GRCh37
NC_000005.8:g.69381141_69381143delinsAGC	NCBI36
NG_008728.1:g.5036_5038delinsAGC

Transcript Alleles

HGVS	Amino-acid Change
NM_017411.3:c.-128_-126delinsAGC	NP_059107.1:n.-128_-126delinsAGC
NM_022875.2:c.-128_-126delinsAGC	NP_075013.1:n.-128_-126delinsAGC
NM_022876.2:c.-128_-126delinsAGC	NP_075014.1:n.-128_-126delinsAGC
NM_022877.2:c.-128_-126delinsAGC	NP_075015.1:n.-128_-126delinsAGC
XR_948432.1:n.1054+61554_1054+61556delinsAGC