Canonical Allele Identifier: CA1979717274
Gene: BBS1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.66514841_66514843delinsGTT , CM000673.2:g.66514841_66514843delinsGTT GRCh38
NC_000011.9:g.66282312_66282314delinsGTT , CM000673.1:g.66282312_66282314delinsGTT GRCh37
NC_000011.8:g.66038888_66038890delinsGTT NCBI36
NG_009093.1:g.9194_9196delinsGTT

Transcript Alleles

HGVS Amino-acid Change
ENST00000318312.12:c.432+163_432+165delinsGTT MANE Select ENSP00000317469.7:n.432+163_432+165delinsGTT
ENST00000318312.11:c.432+163_432+165delinsGTT ENSP00000317469.7:n.432+163_432+165delinsGTT
ENST00000393994.4:c.432+163_432+165delinsGTT ENSP00000377563.2:n.432+163_432+165delinsGTT
ENST00000419755.3:c.543+163_543+165delinsGTT ENSP00000398526.3:n.543+163_543+165delinsGTT
ENST00000455748.6:c.432+163_432+165delinsGTT ENSP00000405764.2:n.432+163_432+165delinsGTT
ENST00000524458.5:c.*139+163_*139+165delinsGTT ENSP00000436195.1:n.*139+163_*139+165delinsGTT
ENST00000524705.2:c.153+163_153+165delinsGTT ENSP00000436927.1:n.153+163_153+165delinsGTT
ENST00000524907.5:n.422+163_422+165delinsGTT
ENST00000525809.5:c.160-699_160-697delinsGTT ENSP00000431187.1:n.160-699_160-697delinsGTT
ENST00000526035.5:c.*139+163_*139+165delinsGTT ENSP00000434197.1:n.*139+163_*139+165delinsGTT
ENST00000526760.5:c.*139+163_*139+165delinsGTT ENSP00000432140.1:n.*139+163_*139+165delinsGTT
ENST00000527251.5:c.*139+163_*139+165delinsGTT ENSP00000434360.1:n.*139+163_*139+165delinsGTT
ENST00000529766.5:n.439+163_439+165delinsGTT
ENST00000529953.5:n.84+163_84+165delinsGTT
ENST00000529955.5:n.450+163_450+165delinsGTT
ENST00000532908.5:c.*139+163_*139+165delinsGTT ENSP00000431866.1:n.*139+163_*139+165delinsGTT
ENST00000533430.5:n.210+163_210+165delinsGTT
ENST00000533557.5:c.*139+163_*139+165delinsGTT ENSP00000434619.1:n.*139+163_*139+165delinsGTT
ENST00000533644.5:c.432+163_432+165delinsGTT ENSP00000436073.1:n.432+163_432+165delinsGTT
ENST00000534730.5:n.444+163_444+165delinsGTT
ENST00000630659.2:c.*139+163_*139+165delinsGTT ENSP00000486455.1:n.*139+163_*139+165delinsGTT
NM_024649.4:c.432+163_432+165delinsGTT NP_078925.3:n.432+163_432+165delinsGTT
NM_024649.5:c.432+163_432+165delinsGTT MANE Select NP_078925.3:n.432+163_432+165delinsGTT