Canonical Allele Identifier: CA813572688

Gene: SMN2

Linked Data

• dbSNP Id: rs1455058313
• gnomAD v3: 5-70070854-AAAAAAT-A
• gnomAD v4: 5-70070854-AAAAAAT-A
• MyVariant Identifiers: chr5:g.69366682_69366687del (hg19) ; chr5:g.70070855_70070860del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.70070866_70070871del , CM000667.2:g.70070866_70070871del	GRCh38
NC_000005.9:g.69366693_69366698del , CM000667.1:g.69366693_69366698del	GRCh37
NC_000005.8:g.69402449_69402454del	NCBI36
NG_008728.1:g.26344_26349del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000380743.9:c.834+115_834+120del MANE Select	ENSP00000370119.4:n.834+115_834+120del
ENST00000638794.1:c.834+115_834+120del	ENSP00000492675.1:n.834+115_834+120del
ENST00000380741.8:c.834+115_834+120del	ENSP00000370117.5:n.834+115_834+120del
ENST00000380742.8:c.738+115_738+120del	ENSP00000370118.4:n.738+115_738+120del
ENST00000380743.8:c.834+115_834+120del	ENSP00000370119.4:n.834+115_834+120del
ENST00000505346.5:n.300+115_300+120del
ENST00000506734.5:c.834+115_834+120del	ENSP00000424799.1:n.834+115_834+120del
ENST00000507458.2:c.88+115_88+120del
ENST00000511812.5:c.633+115_633+120del	ENSP00000424282.1:n.633+115_633+120del
ENST00000514914.1:n.375+115_375+120del
ENST00000614240.4:c.738+115_738+120del	ENSP00000479279.1:n.738+115_738+120del
ENST00000626847.2:c.834+115_834+120del	ENSP00000486152.1:n.834+115_834+120del
ENST00000628696.2:c.834+115_834+120del	ENSP00000486268.1:n.834+115_834+120del
NM_017411.3:c.834+115_834+120del	NP_059107.1:n.834+115_834+120del
NM_022875.2:c.834+115_834+120del	NP_075013.1:n.834+115_834+120del
NM_022876.2:c.738+115_738+120del	NP_075014.1:n.738+115_738+120del
NM_022877.2:c.738+115_738+120del	NP_075015.1:n.738+115_738+120del
XM_011543599.1:c.834+115_834+120del	XP_011541901.1:n.834+115_834+120del
XM_011543600.1:c.633+115_633+120del	XP_011541902.1:n.633+115_633+120del
XM_011543601.1:c.633+115_633+120del	XP_011541903.1:n.633+115_633+120del
XM_011543602.1:c.537+115_537+120del	XP_011541904.1:n.537+115_537+120del
XM_011543603.1:c.537+115_537+120del	XP_011541905.1:n.537+115_537+120del
XR_948432.1:n.1054+82862_1054+82867del
XM_011543600.2:c.633+115_633+120del	XP_011541902.1:n.633+115_633+120del
XM_011543602.3:c.537+115_537+120del	XP_011541904.1:n.537+115_537+120del
XM_011543603.3:c.537+115_537+120del	XP_011541905.1:n.537+115_537+120del
XM_017009787.1:c.834+115_834+120del	XP_016865276.1:n.834+115_834+120del
NM_017411.4:c.834+115_834+120del MANE Select	NP_059107.1:n.834+115_834+120del
NM_022875.3:c.834+115_834+120del	NP_075013.1:n.834+115_834+120del