Canonical Allele Identifier: CA2840488866

Gene: BBS1

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.66514663dup , CM000673.2:g.66514663dup	GRCh38
NC_000011.9:g.66282134dup , CM000673.1:g.66282134dup	GRCh37
NC_000011.8:g.66038710dup	NCBI36
NG_009093.1:g.9016dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000318312.12:c.417dup MANE Select	ENSP00000317469.7:p.Asn140GlufsTer?
ENST00000318312.11:c.417dup	ENSP00000317469.7:p.Asn140GlufsTer?
ENST00000393994.4:c.417dup	ENSP00000377563.2:p.Asn140GlufsTer?
ENST00000419755.3:c.528dup	ENSP00000398526.3:p.Asn177GlufsTer?
ENST00000455748.6:c.417dup	ENSP00000405764.2:p.Asn140GlufsTer22
ENST00000524458.5:c.*124dup	ENSP00000436195.1:n.*124dup
ENST00000524705.2:c.138dup	ENSP00000436927.1:p.Asn47GlufsTer?
ENST00000524907.5:n.407dup
ENST00000525809.5:c.160-877dup	ENSP00000431187.1:n.160-877dup
ENST00000526035.5:c.*124dup	ENSP00000434197.1:n.*124dup
ENST00000526760.5:c.*124dup	ENSP00000432140.1:n.*124dup
ENST00000527251.5:c.*124dup	ENSP00000434360.1:n.*124dup
ENST00000529766.5:n.424dup
ENST00000529953.5:n.69dup
ENST00000529955.5:n.435dup
ENST00000532908.5:c.*124dup	ENSP00000431866.1:n.*124dup
ENST00000533430.5:n.195dup
ENST00000533557.5:c.*124dup	ENSP00000434619.1:n.*124dup
ENST00000533644.5:c.417dup	ENSP00000436073.1:p.Asn140GlufsTer25
ENST00000534730.5:n.429dup
ENST00000630659.2:c.*124dup	ENSP00000486455.1:n.*124dup
NM_024649.4:c.417dup	NP_078925.3:p.Asn140GlufsTer?
NM_024649.5:c.417dup MANE Select	NP_078925.3:p.Asn140GlufsTer?