Canonical Allele Identifier: CA2186902473

Gene: BBS4

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.72722792A= , CM000677.2:g.72722792A=	GRCh38
NC_000015.9:g.73015133A= , CM000677.1:g.73015133A=	GRCh37
NC_000015.8:g.70802186A=	NCBI36
NG_009416.2:g.41608A=

Transcript Alleles

HGVS	Amino-acid Change
NM_033028.5:c.406-2A= MANE Select	NP_149017.2:n.406-2A=
ENST00000268057.9:c.406-2A= MANE Select	ENSP00000268057.4:n.406-2A=
NM_001252678.1:c.-113A=	NP_001239607.1:n.-113A=
NM_001252678.2:c.-113A=	NP_001239607.1:n.-113A=
NM_001320665.1:c.406-2A=	NP_001307594.1:n.406-2A=
NM_001320665.2:c.406-2A=	NP_001307594.1:n.406-2A=
NM_033028.4:c.406-2A=	NP_149017.2:n.406-2A=
NR_045565.1:n.513-2A=
NR_045565.2:n.485-2A=
NR_045566.1:n.768-2A=
NR_045566.2:n.740-2A=
ENST00000268057.8:c.406-2A=	ENSP00000268057.4:n.406-2A=
ENST00000395205.6:c.-113A=	ENSP00000378631.3:n.-113A=
ENST00000561914.5:c.294-2A=	ENSP00000457795.1:n.294-2A=
ENST00000562084.5:c.*485-2A=	ENSP00000454718.1:n.*485-2A=
ENST00000563600.5:c.*356-2A=	ENSP00000457753.1:n.*356-2A=
ENST00000564239.1:n.473-2A=
ENST00000565160.5:c.409A=	ENSP00000455412.1:p.Arg137=
ENST00000566400.5:c.*294A=	ENSP00000456759.1:n.*294A=
ENST00000566938.5:c.*294A=	ENSP00000456463.1:n.*294A=
ENST00000567279.5:c.*260-2A=	ENSP00000456664.1:n.*260-2A=
ENST00000569338.5:c.397-2A=	ENSP00000456758.1:n.397-2A=
ENST00000569440.5:c.*353A=	ENSP00000457958.1:n.*353A=
XM_006720625.2:c.406-2A=	XP_006720688.1:n.406-2A=
XM_011521848.1:c.-113A=	XP_011520150.1:n.-113A=
XM_011521849.1:c.-111-2A=	XP_011520151.1:n.-111-2A=
XM_011521850.1:c.-113A=	XP_011520152.1:n.-113A=
XM_011521851.1:c.-205A=	XP_011520153.1:n.-205A=
XM_017022450.1:c.430-2A=	XP_016877939.1:n.430-2A=
XM_017022452.1:c.-111-2A=	XP_016877941.1:n.-111-2A=
XM_017022453.1:c.-113A=	XP_016877942.1:n.-113A=
XM_017022454.1:c.-113A=	XP_016877943.1:n.-113A=