Canonical Allele Identifier: CA393076694

Gene: BBS4

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.72715318T>G , CM000677.2:g.72715318T>G	GRCh38
NC_000015.9:g.73007659T>G , CM000677.1:g.73007659T>G	GRCh37
NC_000015.8:g.70794712T>G	NCBI36
NG_009416.2:g.34134T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000268057.9:c.248T>G MANE Select	ENSP00000268057.4:p.Ile83Ser
ENST00000268057.8:c.248T>G	ENSP00000268057.4:p.Ile83Ser
ENST00000395205.6:c.-274T>G	ENSP00000378631.3:n.-274T>G
ENST00000561914.5:c.221-1460T>G	ENSP00000457795.1:n.221-1460T>G
ENST00000562084.5:c.*327T>G	ENSP00000454718.1:n.*327T>G
ENST00000563600.5:c.*198T>G	ENSP00000457753.1:n.*198T>G
ENST00000564239.1:n.315T>G
ENST00000565160.5:c.248T>G	ENSP00000455412.1:p.Ile83Ser
ENST00000566400.5:c.*133T>G	ENSP00000456759.1:n.*133T>G
ENST00000566829.1:c.266T>G	ENSP00000455958.1:p.Ile89Ser
ENST00000566938.5:c.*133T>G	ENSP00000456463.1:n.*133T>G
ENST00000567279.5:c.*102T>G	ENSP00000456664.1:n.*102T>G
ENST00000569338.5:c.239T>G	ENSP00000456758.1:p.Ile80Ser
ENST00000569440.5:c.*192T>G	ENSP00000457958.1:n.*192T>G
NM_001252678.1:c.-274T>G	NP_001239607.1:n.-274T>G
NM_033028.4:c.248T>G	NP_149017.2:p.Ile83Ser
NR_045565.1:n.355T>G
NR_045566.1:n.610T>G
XM_006720625.2:c.248T>G	XP_006720688.1:p.Ile83Ser
XM_011521848.1:c.-274T>G	XP_011520150.1:n.-274T>G
XM_011521849.1:c.-184-1460T>G	XP_011520151.1:n.-184-1460T>G
XM_011521850.1:c.-189-1460T>G	XP_011520152.1:n.-189-1460T>G
XM_011521851.1:c.-366T>G	XP_011520153.1:n.-366T>G
NM_001320665.1:c.248T>G	NP_001307594.1:p.Ile83Ser
XM_017022450.1:c.272T>G	XP_016877939.1:p.Ile91Ser
XM_017022452.1:c.-184-1460T>G	XP_016877941.1:n.-184-1460T>G
XM_017022453.1:c.-189-1460T>G	XP_016877942.1:n.-189-1460T>G
XM_017022454.1:c.-189-1460T>G	XP_016877943.1:n.-189-1460T>G
NM_033028.5:c.248T>G MANE Select	NP_149017.2:p.Ile83Ser
NM_001252678.2:c.-274T>G	NP_001239607.1:n.-274T>G
NM_001320665.2:c.248T>G	NP_001307594.1:p.Ile83Ser
NR_045565.2:n.327T>G
NR_045566.2:n.582T>G