Canonical Allele Identifier: CA491123105

Gene: BBS4

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.72709701T>A , CM000677.2:g.72709701T>A	GRCh38
NC_000015.9:g.73002042T>A , CM000677.1:g.73002042T>A	GRCh37
NC_000015.8:g.70789095T>A	NCBI36
NG_009416.2:g.28517T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000268057.9:c.78T>A MANE Select	ENSP00000268057.4:p.Ala26=
ENST00000268057.8:c.78T>A	ENSP00000268057.4:p.Ala26=
ENST00000395205.6:c.-444T>A	ENSP00000378631.3:n.-444T>A
ENST00000561914.5:c.78T>A	ENSP00000457795.1:p.Ala26=
ENST00000562084.5:c.*157T>A	ENSP00000454718.1:n.*157T>A
ENST00000563600.5:c.*28T>A	ENSP00000457753.1:n.*28T>A
ENST00000564239.1:n.145T>A
ENST00000565160.5:c.78T>A	ENSP00000455412.1:p.Ala26=
ENST00000566400.5:c.26T>A	ENSP00000456759.1:p.Leu9His
ENST00000566829.1:c.101-5T>A	ENSP00000455958.1:n.101-5T>A
ENST00000566938.5:c.26T>A	ENSP00000456463.1:p.Leu9His
ENST00000567279.5:c.136T>A	ENSP00000456664.1:p.Ser46Thr
ENST00000569338.5:c.69T>A	ENSP00000456758.1:p.Ala23=
ENST00000569440.5:c.*22T>A	ENSP00000457958.1:n.*22T>A
NM_001252678.1:c.-444T>A	NP_001239607.1:n.-444T>A
NM_033028.4:c.78T>A	NP_149017.2:p.Ala26=
NR_045565.1:n.185T>A
NR_045566.1:n.440T>A
XM_006720625.2:c.78T>A	XP_006720688.1:p.Ala26=
XM_011521848.1:c.-444T>A	XP_011520150.1:n.-444T>A
XM_011521849.1:c.-327T>A	XP_011520151.1:n.-327T>A
XM_011521851.1:c.-536T>A	XP_011520153.1:n.-536T>A
NM_001320665.1:c.78T>A	NP_001307594.1:p.Ala26=
XM_017022450.1:c.102T>A	XP_016877939.1:p.Ala34=
XM_017022452.1:c.-327T>A	XP_016877941.1:n.-327T>A
XM_017022453.1:c.-332T>A	XP_016877942.1:n.-332T>A
XM_017022454.1:c.-332T>A	XP_016877943.1:n.-332T>A
NM_033028.5:c.78T>A MANE Select	NP_149017.2:p.Ala26=
NM_001252678.2:c.-444T>A	NP_001239607.1:n.-444T>A
NM_001320665.2:c.78T>A	NP_001307594.1:p.Ala26=
NR_045565.2:n.157T>A
NR_045566.2:n.412T>A