Canonical Allele Identifier: CA393076066

Gene: BBS4

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.72712268G>A , CM000677.2:g.72712268G>A	GRCh38
NC_000015.9:g.73004609G>A , CM000677.1:g.73004609G>A	GRCh37
NC_000015.8:g.70791662G>A	NCBI36
NG_009416.2:g.31084G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000268057.9:c.181G>A MANE Select	ENSP00000268057.4:p.Glu61Lys
ENST00000268057.8:c.181G>A	ENSP00000268057.4:p.Glu61Lys
ENST00000395205.6:c.-341G>A	ENSP00000378631.3:n.-341G>A
ENST00000561914.5:c.181G>A	ENSP00000457795.1:p.Glu61Lys
ENST00000562084.5:c.*260G>A	ENSP00000454718.1:n.*260G>A
ENST00000563600.5:c.*131G>A	ENSP00000457753.1:n.*131G>A
ENST00000564239.1:n.248G>A
ENST00000565160.5:c.181G>A	ENSP00000455412.1:p.Glu61Lys
ENST00000566400.5:c.*66G>A	ENSP00000456759.1:n.*66G>A
ENST00000566829.1:c.199G>A	ENSP00000455958.1:p.Glu67Lys
ENST00000566938.5:c.*66G>A	ENSP00000456463.1:n.*66G>A
ENST00000567279.5:c.*35G>A	ENSP00000456664.1:n.*35G>A
ENST00000569338.5:c.172G>A	ENSP00000456758.1:p.Glu58Lys
ENST00000569440.5:c.*125G>A	ENSP00000457958.1:n.*125G>A
NM_001252678.1:c.-341G>A	NP_001239607.1:n.-341G>A
NM_033028.4:c.181G>A	NP_149017.2:p.Glu61Lys
NR_045565.1:n.288G>A
NR_045566.1:n.543G>A
XM_006720625.2:c.181G>A	XP_006720688.1:p.Glu61Lys
XM_011521848.1:c.-341G>A	XP_011520150.1:n.-341G>A
XM_011521849.1:c.-224G>A	XP_011520151.1:n.-224G>A
XM_011521850.1:c.-229G>A	XP_011520152.1:n.-229G>A
XM_011521851.1:c.-433G>A	XP_011520153.1:n.-433G>A
NM_001320665.1:c.181G>A	NP_001307594.1:p.Glu61Lys
XM_017022450.1:c.205G>A	XP_016877939.1:p.Glu69Lys
XM_017022452.1:c.-224G>A	XP_016877941.1:n.-224G>A
XM_017022453.1:c.-229G>A	XP_016877942.1:n.-229G>A
XM_017022454.1:c.-229G>A	XP_016877943.1:n.-229G>A
NM_033028.5:c.181G>A MANE Select	NP_149017.2:p.Glu61Lys
NM_001252678.2:c.-341G>A	NP_001239607.1:n.-341G>A
NM_001320665.2:c.181G>A	NP_001307594.1:p.Glu61Lys
NR_045565.2:n.260G>A
NR_045566.2:n.515G>A