Canonical Allele Identifier: CA2674141856

Gene: SMN2

Linked Data

• gnomAD v4: 5-70049638-ACT-A

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.70049641_70049642del , CM000667.2:g.70049641_70049642del	GRCh38
NC_000005.9:g.69345468_69345469del , CM000667.1:g.69345468_69345469del	GRCh37
NC_000005.8:g.69381224_69381225del	NCBI36
NG_008728.1:g.5119_5120del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000380743.8:c.-45_-44del	ENSP00000370119.4:n.-45_-44del
ENST00000511812.5:c.-45_-44del	ENSP00000424282.1:n.-45_-44del
NM_017411.3:c.-45_-44del	NP_059107.1:n.-45_-44del
NM_022875.2:c.-45_-44del	NP_075013.1:n.-45_-44del
NM_022876.2:c.-45_-44del	NP_075014.1:n.-45_-44del
NM_022877.2:c.-45_-44del	NP_075015.1:n.-45_-44del
XM_011543600.1:c.-45_-44del	XP_011541902.1:n.-45_-44del
XM_011543601.1:c.-45_-44del	XP_011541903.1:n.-45_-44del
XM_011543602.1:c.-45_-44del	XP_011541904.1:n.-45_-44del
XM_011543603.1:c.-45_-44del	XP_011541905.1:n.-45_-44del
XR_948432.1:n.1054+61637_1054+61638del
XM_011543600.2:c.-45_-44del	XP_011541902.1:n.-45_-44del
XM_011543602.3:c.-45_-44del	XP_011541904.1:n.-45_-44del
XM_011543603.3:c.-45_-44del	XP_011541905.1:n.-45_-44del