Canonical Allele Identifier: CA10587210

Gene: BBS4

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.72735185A>G , CM000677.2:g.72735185A>G	GRCh38
NC_000015.9:g.73027526A>G , CM000677.1:g.73027526A>G	GRCh37
NC_000015.8:g.70814579A>G	NCBI36
NG_009416.2:g.54001A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000268057.9:c.1106+3A>G MANE Select	ENSP00000268057.4:n.1106+3A>G
ENST00000268057.8:c.1106+3A>G	ENSP00000268057.4:n.1106+3A>G
ENST00000395205.6:c.590+3A>G	ENSP00000378631.3:n.590+3A>G
ENST00000562084.5:c.*1185+3A>G	ENSP00000454718.1:n.*1185+3A>G
ENST00000562219.1:n.544A>G
ENST00000566197.1:c.151+3A>G
ENST00000566400.5:c.*996+3A>G	ENSP00000456759.1:n.*996+3A>G
ENST00000567279.5:c.*960+3A>G	ENSP00000456664.1:n.*960+3A>G
ENST00000569151.1:n.243A>G
NM_001252678.1:c.590+3A>G	NP_001239607.1:n.590+3A>G
NM_033028.4:c.1106+3A>G	NP_149017.2:n.1106+3A>G
NR_045565.1:n.1213+3A>G
NR_045566.1:n.1468+3A>G
XM_006720625.2:c.1037+3A>G	XP_006720688.1:n.1037+3A>G
XM_011521848.1:c.590+3A>G	XP_011520150.1:n.590+3A>G
XM_011521849.1:c.590+3A>G	XP_011520151.1:n.590+3A>G
XM_011521850.1:c.590+3A>G	XP_011520152.1:n.590+3A>G
XM_011521851.1:c.374+3A>G	XP_011520153.1:n.374+3A>G
NM_001320665.1:c.1037+3A>G	NP_001307594.1:n.1037+3A>G
XM_017022450.1:c.1061+3A>G	XP_016877939.1:n.1061+3A>G
XM_017022452.1:c.590+3A>G	XP_016877941.1:n.590+3A>G
XM_017022453.1:c.590+3A>G	XP_016877942.1:n.590+3A>G
XM_017022454.1:c.590+3A>G	XP_016877943.1:n.590+3A>G
NM_033028.5:c.1106+3A>G MANE Select	NP_149017.2:n.1106+3A>G
NM_001252678.2:c.590+3A>G	NP_001239607.1:n.590+3A>G
NM_001320665.2:c.1037+3A>G	NP_001307594.1:n.1037+3A>G
NR_045565.2:n.1185+3A>G
NR_045566.2:n.1440+3A>G