Canonical Allele Identifier: CA1979717538
Gene: BBS1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.66514980_66514981delinsGA , CM000673.2:g.66514980_66514981delinsGA GRCh38
NC_000011.9:g.66282451_66282452delinsGA , CM000673.1:g.66282451_66282452delinsGA GRCh37
NC_000011.8:g.66039027_66039028delinsGA NCBI36
NG_009093.1:g.9333_9334delinsGA

Transcript Alleles

HGVS Amino-acid Change
ENST00000318312.12:c.432+302_432+303delinsGA MANE Select ENSP00000317469.7:n.432+302_432+303delinsGA
ENST00000318312.11:c.432+302_432+303delinsGA ENSP00000317469.7:n.432+302_432+303delinsGA
ENST00000393994.4:c.432+302_432+303delinsGA ENSP00000377563.2:n.432+302_432+303delinsGA
ENST00000419755.3:c.543+302_543+303delinsGA ENSP00000398526.3:n.543+302_543+303delinsGA
ENST00000455748.6:c.432+302_432+303delinsGA ENSP00000405764.2:n.432+302_432+303delinsGA
ENST00000524458.5:c.*139+302_*139+303delinsGA ENSP00000436195.1:n.*139+302_*139+303delinsGA
ENST00000524705.2:c.153+302_153+303delinsGA ENSP00000436927.1:n.153+302_153+303delinsGA
ENST00000524907.5:n.422+302_422+303delinsGA
ENST00000525809.5:c.160-560_160-559delinsGA ENSP00000431187.1:n.160-560_160-559delinsGA
ENST00000526035.5:c.*139+302_*139+303delinsGA ENSP00000434197.1:n.*139+302_*139+303delinsGA
ENST00000526760.5:c.*139+302_*139+303delinsGA ENSP00000432140.1:n.*139+302_*139+303delinsGA
ENST00000527251.5:c.*139+302_*139+303delinsGA ENSP00000434360.1:n.*139+302_*139+303delinsGA
ENST00000529766.5:n.439+302_439+303delinsGA
ENST00000529953.5:n.84+302_84+303delinsGA
ENST00000529955.5:n.450+302_450+303delinsGA
ENST00000532908.5:c.*139+302_*139+303delinsGA ENSP00000431866.1:n.*139+302_*139+303delinsGA
ENST00000533430.5:n.210+302_210+303delinsGA
ENST00000533557.5:c.*139+302_*139+303delinsGA ENSP00000434619.1:n.*139+302_*139+303delinsGA
ENST00000533644.5:c.432+302_432+303delinsGA ENSP00000436073.1:n.432+302_432+303delinsGA
ENST00000534730.5:n.444+302_444+303delinsGA
ENST00000630659.2:c.*139+302_*139+303delinsGA ENSP00000486455.1:n.*139+302_*139+303delinsGA
NM_024649.4:c.432+302_432+303delinsGA NP_078925.3:n.432+302_432+303delinsGA
NM_024649.5:c.432+302_432+303delinsGA MANE Select NP_078925.3:n.432+302_432+303delinsGA