Canonical Allele Identifier: CA2580089995

Gene: BBS4

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.72731596_72731597delinsCA , CM000677.2:g.72731596_72731597delinsCA	GRCh38
NC_000015.9:g.73023937_73023938delinsCA , CM000677.1:g.73023937_73023938delinsCA	GRCh37
NC_000015.8:g.70810990_70810991delinsCA	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000268057.9:c.906_907delinsCA MANE Select	ENSP00000268057.4:p.Asp303Asn
ENST00000268057.8:c.906_907delinsCA	ENSP00000268057.4:p.Asp303Asn
ENST00000395205.6:c.390_391delinsCA	ENSP00000378631.3:p.Asp131Asn
ENST00000562084.5:c.*985_*986delinsCA	ENSP00000454718.1:n.*985_*986delinsCA
ENST00000562219.1:n.341_342delinsCA
ENST00000566400.5:c.*796_*797delinsCA	ENSP00000456759.1:n.*796_*797delinsCA
ENST00000567279.5:c.*760_*761delinsCA	ENSP00000456664.1:n.*760_*761delinsCA
ENST00000569151.1:n.40_41delinsCA
ENST00000569338.5:c.828_829delinsCA	ENSP00000456758.1:p.Asp277Asn
XM_006720625.2:c.837_838delinsCA	XP_006720688.1:p.Asp280Asn
XM_011521848.1:c.390_391delinsCA	XP_011520150.1:p.Asp131Asn
XM_011521849.1:c.390_391delinsCA	XP_011520151.1:p.Asp131Asn
XM_011521850.1:c.390_391delinsCA	XP_011520152.1:p.Asp131Asn
XM_011521851.1:c.174_175delinsCA	XP_011520153.1:p.Asp59Asn
XM_017022450.1:c.861_862delinsCA	XP_016877939.1:p.Asp288Asn
XM_017022452.1:c.390_391delinsCA	XP_016877941.1:p.Asp131Asn
XM_017022453.1:c.390_391delinsCA	XP_016877942.1:p.Asp131Asn
XM_017022454.1:c.390_391delinsCA	XP_016877943.1:p.Asp131Asn
NM_033028.5:c.906_907delinsCA MANE Select	NP_149017.2:p.Asp303Asn
NM_001252678.2:c.390_391delinsCA	NP_001239607.1:p.Asp131Asn
NM_001320665.2:c.837_838delinsCA	NP_001307594.1:p.Asp280Asn
NR_045565.2:n.985_986delinsCA
NR_045566.2:n.1240_1241delinsCA