Canonical Allele Identifier: CA7646463

Gene: BBS4

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.72695230T>C , CM000677.2:g.72695230T>C	GRCh38
NC_000015.9:g.72987571T>C , CM000677.1:g.72987571T>C	GRCh37
NC_000015.8:g.70774624T>C	NCBI36
NG_009416.2:g.14046T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000268057.9:c.76+2T>C MANE Select	ENSP00000268057.4:n.76+2T>C
ENST00000268057.8:c.76+2T>C	ENSP00000268057.4:n.76+2T>C
ENST00000395205.6:c.-446+8979T>C	ENSP00000378631.3:n.-446+8979T>C
ENST00000561914.5:c.76+2T>C	ENSP00000457795.1:n.76+2T>C
ENST00000562084.5:c.*155+2T>C	ENSP00000454718.1:n.*155+2T>C
ENST00000563600.5:c.*26+2T>C	ENSP00000457753.1:n.*26+2T>C
ENST00000564239.1:n.143+2T>C
ENST00000565160.5:c.76+2T>C	ENSP00000455412.1:n.76+2T>C
ENST00000566400.5:c.24+8979T>C	ENSP00000456759.1:n.24+8979T>C
ENST00000566829.1:c.100+2T>C	ENSP00000455958.1:n.100+2T>C
ENST00000566938.5:c.24+8979T>C	ENSP00000456463.1:n.24+8979T>C
ENST00000567279.5:c.76+2T>C	ENSP00000456664.1:n.76+2T>C
ENST00000569338.5:c.67+2T>C	ENSP00000456758.1:n.67+2T>C
ENST00000569440.5:c.76+2T>C	ENSP00000457958.1:n.76+2T>C
NM_001252678.1:c.-446+8979T>C	NP_001239607.1:n.-446+8979T>C
NM_033028.4:c.76+2T>C	NP_149017.2:n.76+2T>C
NR_045565.1:n.125+2T>C
NR_045566.1:n.438+2T>C
XM_006720625.2:c.76+2T>C	XP_006720688.1:n.76+2T>C
XM_011521848.1:c.-446+2T>C	XP_011520150.1:n.-446+2T>C
XM_011521849.1:c.-329+2T>C	XP_011520151.1:n.-329+2T>C
XM_011521851.1:c.-538+2T>C	XP_011520153.1:n.-538+2T>C
NM_001320665.1:c.76+2T>C	NP_001307594.1:n.76+2T>C
XM_017022450.1:c.100+2T>C	XP_016877939.1:n.100+2T>C
XM_017022452.1:c.-329+2T>C	XP_016877941.1:n.-329+2T>C
XM_017022453.1:c.-334+2T>C	XP_016877942.1:n.-334+2T>C
XM_017022454.1:c.-334+8979T>C	XP_016877943.1:n.-334+8979T>C
NM_033028.5:c.76+2T>C MANE Select	NP_149017.2:n.76+2T>C
NM_001252678.2:c.-446+8979T>C	NP_001239607.1:n.-446+8979T>C
NM_001320665.2:c.76+2T>C	NP_001307594.1:n.76+2T>C
NR_045565.2:n.97+2T>C
NR_045566.2:n.410+2T>C