Canonical Allele Identifier: CA2186920604

Gene: BBS4

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.72735167C= , CM000677.2:g.72735167C=	GRCh38
NC_000015.9:g.73027508C= , CM000677.1:g.73027508C=	GRCh37
NC_000015.8:g.70814561C=	NCBI36
NG_009416.2:g.53983C=

Transcript Alleles

HGVS	Amino-acid Change
NM_033028.5:c.1091C= MANE Select	NP_149017.2:p.Ala364=
ENST00000268057.9:c.1091C= MANE Select	ENSP00000268057.4:p.Ala364=
NM_001252678.1:c.575C=	NP_001239607.1:p.Ala192=
NM_001252678.2:c.575C=	NP_001239607.1:p.Ala192=
NM_001320665.1:c.1022C=	NP_001307594.1:p.Ala341=
NM_001320665.2:c.1022C=	NP_001307594.1:p.Ala341=
NM_033028.4:c.1091C=	NP_149017.2:p.Ala364=
NR_045565.1:n.1198C=
NR_045565.2:n.1170C=
NR_045566.1:n.1453C=
NR_045566.2:n.1425C=
ENST00000268057.8:c.1091C=	ENSP00000268057.4:p.Ala364=
ENST00000395205.6:c.575C=	ENSP00000378631.3:p.Ala192=
ENST00000562084.5:c.*1170C=	ENSP00000454718.1:n.*1170C=
ENST00000562219.1:n.526C=
ENST00000566197.1:c.136C=
ENST00000566400.5:c.*981C=	ENSP00000456759.1:n.*981C=
ENST00000567279.5:c.*945C=	ENSP00000456664.1:n.*945C=
ENST00000569151.1:n.225C=
XM_006720625.2:c.1022C=	XP_006720688.1:p.Ala341=
XM_011521848.1:c.575C=	XP_011520150.1:p.Ala192=
XM_011521849.1:c.575C=	XP_011520151.1:p.Ala192=
XM_011521850.1:c.575C=	XP_011520152.1:p.Ala192=
XM_011521851.1:c.359C=	XP_011520153.1:p.Ala120=
XM_017022450.1:c.1046C=	XP_016877939.1:p.Ala349=
XM_017022452.1:c.575C=	XP_016877941.1:p.Ala192=
XM_017022453.1:c.575C=	XP_016877942.1:p.Ala192=
XM_017022454.1:c.575C=	XP_016877943.1:p.Ala192=