Canonical Allele Identifier: CA1979717248

Gene: BBS1

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.66514832_66514840delinsTGAGACGGA , CM000673.2:g.66514832_66514840delinsTGAGACGGA	GRCh38
NC_000011.9:g.66282303_66282311delinsTGAGACGGA , CM000673.1:g.66282303_66282311delinsTGAGACGGA	GRCh37
NC_000011.8:g.66038879_66038887delinsTGAGACGGA	NCBI36
NG_009093.1:g.9185_9193delinsTGAGACGGA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000318312.12:c.432+154_432+162delinsTGAGACGGA MANE Select	ENSP00000317469.7:n.432+154_432+162delinsTGAGACGGA
ENST00000318312.11:c.432+154_432+162delinsTGAGACGGA	ENSP00000317469.7:n.432+154_432+162delinsTGAGACGGA
ENST00000393994.4:c.432+154_432+162delinsTGAGACGGA	ENSP00000377563.2:n.432+154_432+162delinsTGAGACGGA
ENST00000419755.3:c.543+154_543+162delinsTGAGACGGA	ENSP00000398526.3:n.543+154_543+162delinsTGAGACGGA
ENST00000455748.6:c.432+154_432+162delinsTGAGACGGA	ENSP00000405764.2:n.432+154_432+162delinsTGAGACGGA
ENST00000524458.5:c.*139+154_*139+162delinsTGAGACGGA	ENSP00000436195.1:n.*139+154_*139+162delinsTGAGACGGA
ENST00000524705.2:c.153+154_153+162delinsTGAGACGGA	ENSP00000436927.1:n.153+154_153+162delinsTGAGACGGA
ENST00000524907.5:n.422+154_422+162delinsTGAGACGGA
ENST00000525809.5:c.160-708_160-700delinsTGAGACGGA	ENSP00000431187.1:n.160-708_160-700delinsTGAGACGGA
ENST00000526035.5:c.*139+154_*139+162delinsTGAGACGGA	ENSP00000434197.1:n.*139+154_*139+162delinsTGAGACGGA
ENST00000526760.5:c.*139+154_*139+162delinsTGAGACGGA	ENSP00000432140.1:n.*139+154_*139+162delinsTGAGACGGA
ENST00000527251.5:c.*139+154_*139+162delinsTGAGACGGA	ENSP00000434360.1:n.*139+154_*139+162delinsTGAGACGGA
ENST00000529766.5:n.439+154_439+162delinsTGAGACGGA
ENST00000529953.5:n.84+154_84+162delinsTGAGACGGA
ENST00000529955.5:n.450+154_450+162delinsTGAGACGGA
ENST00000532908.5:c.*139+154_*139+162delinsTGAGACGGA	ENSP00000431866.1:n.*139+154_*139+162delinsTGAGACGGA
ENST00000533430.5:n.210+154_210+162delinsTGAGACGGA
ENST00000533557.5:c.*139+154_*139+162delinsTGAGACGGA	ENSP00000434619.1:n.*139+154_*139+162delinsTGAGACGGA
ENST00000533644.5:c.432+154_432+162delinsTGAGACGGA	ENSP00000436073.1:n.432+154_432+162delinsTGAGACGGA
ENST00000534730.5:n.444+154_444+162delinsTGAGACGGA
ENST00000630659.2:c.*139+154_*139+162delinsTGAGACGGA	ENSP00000486455.1:n.*139+154_*139+162delinsTGAGACGGA
NM_024649.4:c.432+154_432+162delinsTGAGACGGA	NP_078925.3:n.432+154_432+162delinsTGAGACGGA
NM_024649.5:c.432+154_432+162delinsTGAGACGGA MANE Select	NP_078925.3:n.432+154_432+162delinsTGAGACGGA