Canonical Allele Identifier: CA254670
Gene: BBS4 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.72709484del , CM000677.2:g.72709484del GRCh38
NC_000015.9:g.73001825del , CM000677.1:g.73001825del GRCh37
NC_000015.8:g.70788878del NCBI36
NG_009416.2:g.28300del

Transcript Alleles

HGVS Amino-acid Change
ENST00000268057.9:c.77-216del MANE Select ENSP00000268057.4:n.77-216del
ENST00000268057.8:c.77-216del ENSP00000268057.4:n.77-216del
ENST00000395205.6:c.-445-216del ENSP00000378631.3:n.-445-216del
ENST00000561914.5:c.77-216del ENSP00000457795.1:n.77-216del
ENST00000562084.5:c.*156-216del ENSP00000454718.1:n.*156-216del
ENST00000563600.5:c.*27-216del ENSP00000457753.1:n.*27-216del
ENST00000564239.1:n.144-216del
ENST00000565160.5:c.77-216del ENSP00000455412.1:n.77-216del
ENST00000566400.5:c.25-216del ENSP00000456759.1:n.25-216del
ENST00000566829.1:c.101-222del ENSP00000455958.1:n.101-222del
ENST00000566938.5:c.25-216del ENSP00000456463.1:n.25-216del
ENST00000567279.5:c.135-216del ENSP00000456664.1:n.135-216del
ENST00000569338.5:c.68-216del ENSP00000456758.1:n.68-216del
ENST00000569440.5:c.*21-216del ENSP00000457958.1:n.*21-216del
NM_001252678.1:c.-445-216del NP_001239607.1:n.-445-216del
NM_033028.4:c.77-216del NP_149017.2:n.77-216del
NR_045565.1:n.184-216del
NR_045566.1:n.439-216del
XM_006720625.2:c.77-216del XP_006720688.1:n.77-216del
XM_011521848.1:c.-445-216del XP_011520150.1:n.-445-216del
XM_011521849.1:c.-328-216del XP_011520151.1:n.-328-216del
XM_011521851.1:c.-537-216del XP_011520153.1:n.-537-216del
NM_001320665.1:c.77-216del NP_001307594.1:n.77-216del
XM_017022450.1:c.101-216del XP_016877939.1:n.101-216del
XM_017022452.1:c.-328-216del XP_016877941.1:n.-328-216del
XM_017022453.1:c.-333-216del XP_016877942.1:n.-333-216del
XM_017022454.1:c.-333-216del XP_016877943.1:n.-333-216del
NM_033028.5:c.77-216del MANE Select NP_149017.2:n.77-216del
NM_001252678.2:c.-445-216del NP_001239607.1:n.-445-216del
NM_001320665.2:c.77-216del NP_001307594.1:n.77-216del
NR_045565.2:n.156-216del
NR_045566.2:n.411-216del