Canonical Allele Identifier: CA2695214782

Gene: BBS1

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.66514566_66514578dup , CM000673.2:g.66514566_66514578dup	GRCh38
NC_000011.9:g.66282037_66282049dup , CM000673.1:g.66282037_66282049dup	GRCh37
NC_000011.8:g.66038613_66038625dup	NCBI36
NG_009093.1:g.8919_8931dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000318312.12:c.320_332dup MANE Select	ENSP00000317469.7:p.Val112PhefsTer9
ENST00000318312.11:c.320_332dup	ENSP00000317469.7:p.Val112PhefsTer9
ENST00000393994.4:c.320_332dup	ENSP00000377563.2:p.Val112PhefsTer9
ENST00000419755.3:c.431_443dup	ENSP00000398526.3:p.Val149PhefsTer9
ENST00000455748.6:c.320_332dup	ENSP00000405764.2:p.Val112PhefsTer9
ENST00000524458.5:c.*27_*39dup	ENSP00000436195.1:n.*27_*39dup
ENST00000524705.2:c.41_53dup	ENSP00000436927.1:p.Val19PhefsTer9
ENST00000524907.5:n.310_322dup
ENST00000525809.5:c.160-974_160-962dup	ENSP00000431187.1:n.160-974_160-962dup
ENST00000526035.5:c.*27_*39dup	ENSP00000434197.1:n.*27_*39dup
ENST00000526760.5:c.*27_*39dup	ENSP00000432140.1:n.*27_*39dup
ENST00000527251.5:c.*27_*39dup	ENSP00000434360.1:n.*27_*39dup
ENST00000529766.5:n.327_339dup
ENST00000529955.5:n.338_350dup
ENST00000532908.5:c.*27_*39dup	ENSP00000431866.1:n.*27_*39dup
ENST00000533430.5:n.98_110dup
ENST00000533557.5:c.*27_*39dup	ENSP00000434619.1:n.*27_*39dup
ENST00000533644.5:c.320_332dup	ENSP00000436073.1:p.Val112PhefsTer9
ENST00000534730.5:n.332_344dup
ENST00000630659.2:c.*27_*39dup	ENSP00000486455.1:n.*27_*39dup
NM_024649.4:c.320_332dup	NP_078925.3:p.Val112PhefsTer9
NM_024649.5:c.320_332dup MANE Select	NP_078925.3:p.Val112PhefsTer9