Canonical Allele Identifier: CA2580084550

Gene: BBS1

Linked Data

• ClinVar Variation Id: 1726144
• ClinVar RCV Id: RCV002307115

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.66515541dup , CM000673.2:g.66515541dup	GRCh38
NC_000011.9:g.66283012dup , CM000673.1:g.66283012dup	GRCh37
NC_000011.8:g.66039588dup	NCBI36
NG_009093.1:g.9894dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000318312.12:c.434dup MANE Select	ENSP00000317469.7:p.Asp145GlufsTer?
ENST00000318312.11:c.434dup	ENSP00000317469.7:p.Asp145GlufsTer?
ENST00000393994.4:c.434dup	ENSP00000377563.2:p.Asp145GlufsTer?
ENST00000419755.3:c.545dup	ENSP00000398526.3:p.Asp182GlufsTer?
ENST00000455748.6:c.432+863dup	ENSP00000405764.2:n.432+863dup
ENST00000524458.5:c.*140-152dup	ENSP00000436195.1:n.*140-152dup
ENST00000524705.2:c.155dup	ENSP00000436927.1:p.Asp52GlufsTer?
ENST00000524907.5:n.424dup
ENST00000525809.5:c.161dup	ENSP00000431187.1:p.Asp54GlufsTer?
ENST00000526035.5:c.*141dup	ENSP00000434197.1:n.*141dup
ENST00000526760.5:c.*141dup	ENSP00000432140.1:n.*141dup
ENST00000527251.5:c.*141dup	ENSP00000434360.1:n.*141dup
ENST00000529766.5:n.441dup
ENST00000529953.5:n.86dup
ENST00000529955.5:n.451-152dup
ENST00000532908.5:c.*140-152dup	ENSP00000431866.1:n.*140-152dup
ENST00000533430.5:n.212dup
ENST00000533557.5:c.*140-152dup	ENSP00000434619.1:n.*140-152dup
ENST00000533644.5:c.433-152dup	ENSP00000436073.1:n.433-152dup
ENST00000534730.5:n.446dup
ENST00000630659.2:c.*141dup	ENSP00000486455.1:n.*141dup
NM_024649.4:c.434dup	NP_078925.3:p.Asp145GlufsTer?
NM_024649.5:c.434dup MANE Select	NP_078925.3:p.Asp145GlufsTer?