Canonical Allele Identifier: CA2629366812

Gene: BBS4

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.72686237_72686239del , CM000677.2:g.72686237_72686239del	GRCh38
NC_000015.9:g.72978578_72978580del , CM000677.1:g.72978578_72978580del	GRCh37
NC_000015.8:g.70765631_70765633del	NCBI36
NG_009416.2:g.5053_5055del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000268057.9:c.10_12del MANE Select	ENSP00000268057.4:p.Glu4del
ENST00000268057.8:c.10_12del	ENSP00000268057.4:p.Glu4del
ENST00000395205.6:c.-460_-458del	ENSP00000378631.3:n.-460_-458del
ENST00000561914.5:c.10_12del	ENSP00000457795.1:p.Glu4del
ENST00000562084.5:c.10_12del	ENSP00000454718.1:p.Glu4del
ENST00000563600.5:c.10_12del	ENSP00000457753.1:p.Glu4del
ENST00000565160.5:c.10_12del	ENSP00000455412.1:p.Glu4del
ENST00000566400.5:c.10_12del	ENSP00000456759.1:p.Glu4del
ENST00000566938.5:c.10_12del	ENSP00000456463.1:p.Glu4del
ENST00000567279.5:c.10_12del	ENSP00000456664.1:p.Glu4del
ENST00000569440.5:c.10_12del	ENSP00000457958.1:p.Glu4del
NM_001252678.1:c.-460_-458del	NP_001239607.1:n.-460_-458del
NM_033028.4:c.10_12del	NP_149017.2:p.Glu4del
NR_045565.1:n.59_61del
NR_045566.1:n.59_61del
XM_006720625.2:c.10_12del	XP_006720688.1:p.Glu4del
XM_011521848.1:c.-512_-510del	XP_011520150.1:n.-512_-510del
XM_011521849.1:c.-395_-393del	XP_011520151.1:n.-395_-393del
XM_011521851.1:c.-604_-602del	XP_011520153.1:n.-604_-602del
NM_001320665.1:c.10_12del	NP_001307594.1:p.Glu4del
XM_017022450.1:c.-280_-278del	XP_016877939.1:n.-280_-278del
XM_017022452.1:c.-708_-706del	XP_016877941.1:n.-708_-706del
XM_017022453.1:c.-400_-398del	XP_016877942.1:n.-400_-398del
XM_017022454.1:c.-348_-346del	XP_016877943.1:n.-348_-346del
NM_033028.5:c.10_12del MANE Select	NP_149017.2:p.Glu4del
NM_001252678.2:c.-460_-458del	NP_001239607.1:n.-460_-458del
NM_001320665.2:c.10_12del	NP_001307594.1:p.Glu4del
NR_045565.2:n.31_33del
NR_045566.2:n.31_33del