Canonical Allele Identifier: CA272636901

Gene: BBS4

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.72715376T>C , CM000677.2:g.72715376T>C	GRCh38
NC_000015.9:g.73007717T>C , CM000677.1:g.73007717T>C	GRCh37
NC_000015.8:g.70794770T>C	NCBI36
NG_009416.2:g.34192T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000268057.9:c.306T>C MANE Select	ENSP00000268057.4:p.Asp102=
ENST00000268057.8:c.306T>C	ENSP00000268057.4:p.Asp102=
ENST00000395205.6:c.-216T>C	ENSP00000378631.3:n.-216T>C
ENST00000561914.5:c.221-1402T>C	ENSP00000457795.1:n.221-1402T>C
ENST00000562084.5:c.*385T>C	ENSP00000454718.1:n.*385T>C
ENST00000563600.5:c.*256T>C	ENSP00000457753.1:n.*256T>C
ENST00000564239.1:n.373T>C
ENST00000565160.5:c.306T>C	ENSP00000455412.1:p.Asp102=
ENST00000566400.5:c.*191T>C	ENSP00000456759.1:n.*191T>C
ENST00000566829.1:c.324T>C	ENSP00000455958.1:p.Asp108=
ENST00000566938.5:c.*191T>C	ENSP00000456463.1:n.*191T>C
ENST00000567279.5:c.*160T>C	ENSP00000456664.1:n.*160T>C
ENST00000569338.5:c.297T>C	ENSP00000456758.1:p.Asp99=
ENST00000569440.5:c.*250T>C	ENSP00000457958.1:n.*250T>C
NM_001252678.1:c.-216T>C	NP_001239607.1:n.-216T>C
NM_033028.4:c.306T>C	NP_149017.2:p.Asp102=
NR_045565.1:n.413T>C
NR_045566.1:n.668T>C
XM_006720625.2:c.306T>C	XP_006720688.1:p.Asp102=
XM_011521848.1:c.-216T>C	XP_011520150.1:n.-216T>C
XM_011521849.1:c.-184-1402T>C	XP_011520151.1:n.-184-1402T>C
XM_011521850.1:c.-189-1402T>C	XP_011520152.1:n.-189-1402T>C
XM_011521851.1:c.-308T>C	XP_011520153.1:n.-308T>C
NM_001320665.1:c.306T>C	NP_001307594.1:p.Asp102=
XM_017022450.1:c.330T>C	XP_016877939.1:p.Asp110=
XM_017022452.1:c.-184-1402T>C	XP_016877941.1:n.-184-1402T>C
XM_017022453.1:c.-189-1402T>C	XP_016877942.1:n.-189-1402T>C
XM_017022454.1:c.-189-1402T>C	XP_016877943.1:n.-189-1402T>C
NM_033028.5:c.306T>C MANE Select	NP_149017.2:p.Asp102=
NM_001252678.2:c.-216T>C	NP_001239607.1:n.-216T>C
NM_001320665.2:c.306T>C	NP_001307594.1:p.Asp102=
NR_045565.2:n.385T>C
NR_045566.2:n.640T>C