Canonical Allele Identifier: CA7646422

Gene: BBS4

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.72686258G>A , CM000677.2:g.72686258G>A	GRCh38
NC_000015.9:g.72978599G>A , CM000677.1:g.72978599G>A	GRCh37
NC_000015.8:g.70765652G>A	NCBI36
NG_009416.2:g.5074G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000268057.9:c.24+7G>A MANE Select	ENSP00000268057.4:n.24+7G>A
ENST00000268057.8:c.24+7G>A	ENSP00000268057.4:n.24+7G>A
ENST00000395205.6:c.-446+7G>A	ENSP00000378631.3:n.-446+7G>A
ENST00000561914.5:c.24+7G>A	ENSP00000457795.1:n.24+7G>A
ENST00000562084.5:c.31G>A	ENSP00000454718.1:p.Ala11Thr
ENST00000563600.5:c.24+7G>A	ENSP00000457753.1:n.24+7G>A
ENST00000565160.5:c.24+7G>A	ENSP00000455412.1:n.24+7G>A
ENST00000566400.5:c.24+7G>A	ENSP00000456759.1:n.24+7G>A
ENST00000566938.5:c.24+7G>A	ENSP00000456463.1:n.24+7G>A
ENST00000567279.5:c.24+7G>A	ENSP00000456664.1:n.24+7G>A
ENST00000569338.5:c.15+7G>A	ENSP00000456758.1:n.15+7G>A
ENST00000569440.5:c.24+7G>A	ENSP00000457958.1:n.24+7G>A
NM_001252678.1:c.-446+7G>A	NP_001239607.1:n.-446+7G>A
NM_033028.4:c.24+7G>A	NP_149017.2:n.24+7G>A
NR_045565.1:n.73+7G>A
NR_045566.1:n.80G>A
XM_006720625.2:c.24+7G>A	XP_006720688.1:n.24+7G>A
XM_011521848.1:c.-498+7G>A	XP_011520150.1:n.-498+7G>A
XM_011521849.1:c.-381+7G>A	XP_011520151.1:n.-381+7G>A
XM_011521851.1:c.-590+7G>A	XP_011520153.1:n.-590+7G>A
NM_001320665.1:c.24+7G>A	NP_001307594.1:n.24+7G>A
XM_017022450.1:c.-259G>A	XP_016877939.1:n.-259G>A
XM_017022452.1:c.-687G>A	XP_016877941.1:n.-687G>A
XM_017022453.1:c.-386+7G>A	XP_016877942.1:n.-386+7G>A
XM_017022454.1:c.-334+7G>A	XP_016877943.1:n.-334+7G>A
NM_033028.5:c.24+7G>A MANE Select	NP_149017.2:n.24+7G>A
NM_001252678.2:c.-446+7G>A	NP_001239607.1:n.-446+7G>A
NM_001320665.2:c.24+7G>A	NP_001307594.1:n.24+7G>A
NR_045565.2:n.45+7G>A
NR_045566.2:n.52G>A