Canonical Allele Identifier: CA393078710

Gene: BBS4

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.72731458G>C , CM000677.2:g.72731458G>C	GRCh38
NC_000015.9:g.73023799G>C , CM000677.1:g.73023799G>C	GRCh37
NC_000015.8:g.70810852G>C	NCBI36
NG_009416.2:g.50274G>C

Transcript Alleles

HGVS	Amino-acid Change
NM_033028.5:c.864+1G>C MANE Select	NP_149017.2:n.864+1G>C
ENST00000268057.9:c.864+1G>C MANE Select	ENSP00000268057.4:n.864+1G>C
NM_001252678.1:c.348+1G>C	NP_001239607.1:n.348+1G>C
NM_001252678.2:c.348+1G>C	NP_001239607.1:n.348+1G>C
NM_001320665.1:c.795+1G>C	NP_001307594.1:n.795+1G>C
NM_001320665.2:c.795+1G>C	NP_001307594.1:n.795+1G>C
NM_033028.4:c.864+1G>C	NP_149017.2:n.864+1G>C
NR_045565.1:n.971+1G>C
NR_045565.2:n.943+1G>C
NR_045566.1:n.1226+1G>C
NR_045566.2:n.1198+1G>C
ENST00000268057.8:c.864+1G>C	ENSP00000268057.4:n.864+1G>C
ENST00000395205.6:c.348+1G>C	ENSP00000378631.3:n.348+1G>C
ENST00000561914.5:c.*441G>C	ENSP00000457795.1:n.*441G>C
ENST00000562084.5:c.*943+1G>C	ENSP00000454718.1:n.*943+1G>C
ENST00000562219.1:n.299+1G>C
ENST00000566400.5:c.*754+1G>C	ENSP00000456759.1:n.*754+1G>C
ENST00000567279.5:c.*718+1G>C	ENSP00000456664.1:n.*718+1G>C
ENST00000569338.5:c.786+1G>C	ENSP00000456758.1:n.786+1G>C
XM_006720625.2:c.795+1G>C	XP_006720688.1:n.795+1G>C
XM_011521848.1:c.348+1G>C	XP_011520150.1:n.348+1G>C
XM_011521849.1:c.348+1G>C	XP_011520151.1:n.348+1G>C
XM_011521850.1:c.348+1G>C	XP_011520152.1:n.348+1G>C
XM_011521851.1:c.132+1G>C	XP_011520153.1:n.132+1G>C
XM_017022450.1:c.819+1G>C	XP_016877939.1:n.819+1G>C
XM_017022452.1:c.348+1G>C	XP_016877941.1:n.348+1G>C
XM_017022453.1:c.348+1G>C	XP_016877942.1:n.348+1G>C
XM_017022454.1:c.348+1G>C	XP_016877943.1:n.348+1G>C