Canonical Allele Identifier: CA2840488862

Gene: BBS1

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.66514485dup , CM000673.2:g.66514485dup	GRCh38
NC_000011.9:g.66281956dup , CM000673.1:g.66281956dup	GRCh37
NC_000011.8:g.66038532dup	NCBI36
NG_009093.1:g.8838dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000318312.12:c.239dup MANE Select	ENSP00000317469.7:p.Ser80ArgfsTer19
ENST00000318312.11:c.239dup	ENSP00000317469.7:p.Ser80ArgfsTer19
ENST00000393994.4:c.239dup	ENSP00000377563.2:p.Ser80ArgfsTer19
ENST00000419755.3:c.350dup	ENSP00000398526.3:p.Ser117ArgfsTer19
ENST00000455748.6:c.239dup	ENSP00000405764.2:p.Ser80ArgfsTer19
ENST00000524458.5:c.114dup	ENSP00000436195.1:p.Pro39AlafsTer?
ENST00000524705.2:c.-20-21dup	ENSP00000436927.1:n.-20-21dup
ENST00000524907.5:n.229dup
ENST00000525809.5:c.160-1055dup	ENSP00000431187.1:n.160-1055dup
ENST00000526035.5:c.204dup	ENSP00000434197.1:p.Pro69AlafsTer?
ENST00000526760.5:c.204dup	ENSP00000432140.1:p.Pro69AlafsTer?
ENST00000526815.5:c.149dup	ENSP00000436860.1:p.Ser50ArgfsTer?
ENST00000527251.5:c.114dup	ENSP00000434360.1:p.Pro39AlafsTer?
ENST00000529766.5:n.246dup
ENST00000529955.5:n.257dup
ENST00000532908.5:c.204dup	ENSP00000431866.1:p.Pro69AlafsTer?
ENST00000533430.5:n.17dup
ENST00000533557.5:c.204dup	ENSP00000434619.1:p.Pro69AlafsTer?
ENST00000533644.5:c.239dup	ENSP00000436073.1:p.Ser80ArgfsTer19
ENST00000534730.5:n.251dup
ENST00000630659.2:c.204dup	ENSP00000486455.1:p.Pro69AlafsTer?
NM_024649.4:c.239dup	NP_078925.3:p.Ser80ArgfsTer19
NM_024649.5:c.239dup MANE Select	NP_078925.3:p.Ser80ArgfsTer19