Canonical Allele Identifier: CA393075757

Gene: BBS4

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.72709706A>C , CM000677.2:g.72709706A>C	GRCh38
NC_000015.9:g.73002047A>C , CM000677.1:g.73002047A>C	GRCh37
NC_000015.8:g.70789100A>C	NCBI36
NG_009416.2:g.28522A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000268057.9:c.83A>C MANE Select	ENSP00000268057.4:p.Glu28Ala
ENST00000268057.8:c.83A>C	ENSP00000268057.4:p.Glu28Ala
ENST00000395205.6:c.-439A>C	ENSP00000378631.3:n.-439A>C
ENST00000561914.5:c.83A>C	ENSP00000457795.1:p.Glu28Ala
ENST00000562084.5:c.*162A>C	ENSP00000454718.1:n.*162A>C
ENST00000563600.5:c.*33A>C	ENSP00000457753.1:n.*33A>C
ENST00000564239.1:n.150A>C
ENST00000565160.5:c.83A>C	ENSP00000455412.1:p.Glu28Ala
ENST00000566400.5:c.31A>C	ENSP00000456759.1:p.Ser11Arg
ENST00000566829.1:c.101A>C	ENSP00000455958.1:p.Glu34Ala
ENST00000566938.5:c.31A>C	ENSP00000456463.1:p.Ser11Arg
ENST00000567279.5:c.141A>C	ENSP00000456664.1:p.Arg47Ser
ENST00000569338.5:c.74A>C	ENSP00000456758.1:p.Glu25Ala
ENST00000569440.5:c.*27A>C	ENSP00000457958.1:n.*27A>C
NM_001252678.1:c.-439A>C	NP_001239607.1:n.-439A>C
NM_033028.4:c.83A>C	NP_149017.2:p.Glu28Ala
NR_045565.1:n.190A>C
NR_045566.1:n.445A>C
XM_006720625.2:c.83A>C	XP_006720688.1:p.Glu28Ala
XM_011521848.1:c.-439A>C	XP_011520150.1:n.-439A>C
XM_011521849.1:c.-322A>C	XP_011520151.1:n.-322A>C
XM_011521851.1:c.-531A>C	XP_011520153.1:n.-531A>C
NM_001320665.1:c.83A>C	NP_001307594.1:p.Glu28Ala
XM_017022450.1:c.107A>C	XP_016877939.1:p.Glu36Ala
XM_017022452.1:c.-322A>C	XP_016877941.1:n.-322A>C
XM_017022453.1:c.-327A>C	XP_016877942.1:n.-327A>C
XM_017022454.1:c.-327A>C	XP_016877943.1:n.-327A>C
NM_033028.5:c.83A>C MANE Select	NP_149017.2:p.Glu28Ala
NM_001252678.2:c.-439A>C	NP_001239607.1:n.-439A>C
NM_001320665.2:c.83A>C	NP_001307594.1:p.Glu28Ala
NR_045565.2:n.162A>C
NR_045566.2:n.417A>C