Canonical Allele Identifier: CA1979716305

Gene: BBS1

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.66514373_66514384delinsCTGAGCCTAGAA , CM000673.2:g.66514373_66514384delinsCTGAGCCTAGAA	GRCh38
NC_000011.9:g.66281844_66281855delinsCTGAGCCTAGAA , CM000673.1:g.66281844_66281855delinsCTGAGCCTAGAA	GRCh37
NC_000011.8:g.66038420_66038431delinsCTGAGCCTAGAA	NCBI36
NG_009093.1:g.8726_8737delinsCTGAGCCTAGAA

Transcript Alleles

HGVS	Amino-acid change
ENST00000318312.12:c.160-33_160-22delinsCTGAGCCTAGAA MANE Select	ENSP00000317469.7:n.160-33_160-22delinsCTGAGCCTAGAA
ENST00000318312.11:c.160-33_160-22delinsCTGAGCCTAGAA	ENSP00000317469.7:n.160-33_160-22delinsCTGAGCCTAGAA
ENST00000393994.4:c.160-33_160-22delinsCTGAGCCTAGAA	ENSP00000377563.2:n.160-33_160-22delinsCTGAGCCTAGAA
ENST00000419755.3:c.271-33_271-22delinsCTGAGCCTAGAA	ENSP00000398526.3:n.271-33_271-22delinsCTGAGCCTAGAA
ENST00000455748.6:c.160-33_160-22delinsCTGAGCCTAGAA	ENSP00000405764.2:n.160-33_160-22delinsCTGAGCCTAGAA
ENST00000524458.5:c.35-33_35-22delinsCTGAGCCTAGAA	ENSP00000436195.1:n.35-33_35-22delinsCTGAGCCTAGAA
ENST00000524705.2:c.-20-133_-20-122delinsCTGAGCCTAGAA	ENSP00000436927.1:n.-20-133_-20-122delinsCTGAGCCTAGAA
ENST00000524907.5:n.150-33_150-22delinsCTGAGCCTAGAA
ENST00000525809.5:c.160-1167_160-1156delinsCTGAGCCTAGAA	ENSP00000431187.1:n.160-1167_160-1156delinsCTGAGCCTAGAA
ENST00000526035.5:c.125-33_125-22delinsCTGAGCCTAGAA	ENSP00000434197.1:n.125-33_125-22delinsCTGAGCCTAGAA
ENST00000526760.5:c.125-33_125-22delinsCTGAGCCTAGAA	ENSP00000432140.1:n.125-33_125-22delinsCTGAGCCTAGAA
ENST00000526815.5:c.70-33_70-22delinsCTGAGCCTAGAA	ENSP00000436860.1:n.70-33_70-22delinsCTGAGCCTAGAA
ENST00000527251.5:c.35-33_35-22delinsCTGAGCCTAGAA	ENSP00000434360.1:n.35-33_35-22delinsCTGAGCCTAGAA
ENST00000529766.5:n.167-33_167-22delinsCTGAGCCTAGAA
ENST00000529955.5:n.178-33_178-22delinsCTGAGCCTAGAA
ENST00000532908.5:c.125-33_125-22delinsCTGAGCCTAGAA	ENSP00000431866.1:n.125-33_125-22delinsCTGAGCCTAGAA
ENST00000533557.5:c.125-33_125-22delinsCTGAGCCTAGAA	ENSP00000434619.1:n.125-33_125-22delinsCTGAGCCTAGAA
ENST00000533644.5:c.160-33_160-22delinsCTGAGCCTAGAA	ENSP00000436073.1:n.160-33_160-22delinsCTGAGCCTAGAA
ENST00000534730.5:n.172-33_172-22delinsCTGAGCCTAGAA
ENST00000630659.2:c.125-33_125-22delinsCTGAGCCTAGAA	ENSP00000486455.1:n.125-33_125-22delinsCTGAGCCTAGAA
NM_024649.4:c.160-33_160-22delinsCTGAGCCTAGAA	NP_078925.3:n.160-33_160-22delinsCTGAGCCTAGAA
NM_024649.5:c.160-33_160-22delinsCTGAGCCTAGAA MANE Select	NP_078925.3:n.160-33_160-22delinsCTGAGCCTAGAA