Canonical Allele Identifier: CA393078813

Gene: BBS4

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.72731597G>A , CM000677.2:g.72731597G>A	GRCh38
NC_000015.9:g.73023938G>A , CM000677.1:g.73023938G>A	GRCh37
NC_000015.8:g.70810991G>A	NCBI36
NG_009416.2:g.50413G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000268057.9:c.907G>A MANE Select	ENSP00000268057.4:p.Asp303Asn
ENST00000268057.8:c.907G>A	ENSP00000268057.4:p.Asp303Asn
ENST00000395205.6:c.391G>A	ENSP00000378631.3:p.Asp131Asn
ENST00000562084.5:c.*986G>A	ENSP00000454718.1:n.*986G>A
ENST00000562219.1:n.342G>A
ENST00000566400.5:c.*797G>A	ENSP00000456759.1:n.*797G>A
ENST00000567279.5:c.*761G>A	ENSP00000456664.1:n.*761G>A
ENST00000569151.1:n.41G>A
ENST00000569338.5:c.829G>A	ENSP00000456758.1:p.Asp277Asn
NM_001252678.1:c.391G>A	NP_001239607.1:p.Asp131Asn
NM_033028.4:c.907G>A	NP_149017.2:p.Asp303Asn
NR_045565.1:n.1014G>A
NR_045566.1:n.1269G>A
XM_006720625.2:c.838G>A	XP_006720688.1:p.Asp280Asn
XM_011521848.1:c.391G>A	XP_011520150.1:p.Asp131Asn
XM_011521849.1:c.391G>A	XP_011520151.1:p.Asp131Asn
XM_011521850.1:c.391G>A	XP_011520152.1:p.Asp131Asn
XM_011521851.1:c.175G>A	XP_011520153.1:p.Asp59Asn
NM_001320665.1:c.838G>A	NP_001307594.1:p.Asp280Asn
XM_017022450.1:c.862G>A	XP_016877939.1:p.Asp288Asn
XM_017022452.1:c.391G>A	XP_016877941.1:p.Asp131Asn
XM_017022453.1:c.391G>A	XP_016877942.1:p.Asp131Asn
XM_017022454.1:c.391G>A	XP_016877943.1:p.Asp131Asn
NM_033028.5:c.907G>A MANE Select	NP_149017.2:p.Asp303Asn
NM_001252678.2:c.391G>A	NP_001239607.1:p.Asp131Asn
NM_001320665.2:c.838G>A	NP_001307594.1:p.Asp280Asn
NR_045565.2:n.986G>A
NR_045566.2:n.1241G>A