Canonical Allele Identifier: CA2614498901
Gene: BBS1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.66514786_66514787insGGTGGC , CM000673.2:g.66514786_66514787insGGTGGC GRCh38
NC_000011.9:g.66282257_66282258insGGTGGC , CM000673.1:g.66282257_66282258insGGTGGC GRCh37
NC_000011.8:g.66038833_66038834insGGTGGC NCBI36
NG_009093.1:g.9139_9140insGGTGGC

Transcript Alleles

HGVS Amino-acid Change
ENST00000318312.12:c.432+108_432+109insGGTGGC MANE Select ENSP00000317469.7:n.432+108_432+109insGGTGGC
ENST00000318312.11:c.432+108_432+109insGGTGGC ENSP00000317469.7:n.432+108_432+109insGGTGGC
ENST00000393994.4:c.432+108_432+109insGGTGGC ENSP00000377563.2:n.432+108_432+109insGGTGGC
ENST00000419755.3:c.543+108_543+109insGGTGGC ENSP00000398526.3:n.543+108_543+109insGGTGGC
ENST00000455748.6:c.432+108_432+109insGGTGGC ENSP00000405764.2:n.432+108_432+109insGGTGGC
ENST00000524458.5:c.*139+108_*139+109insGGTGGC ENSP00000436195.1:n.*139+108_*139+109insGGTGGC
ENST00000524705.2:c.153+108_153+109insGGTGGC ENSP00000436927.1:n.153+108_153+109insGGTGGC
ENST00000524907.5:n.422+108_422+109insGGTGGC
ENST00000525809.5:c.160-754_160-753insGGTGGC ENSP00000431187.1:n.160-754_160-753insGGTGGC
ENST00000526035.5:c.*139+108_*139+109insGGTGGC ENSP00000434197.1:n.*139+108_*139+109insGGTGGC
ENST00000526760.5:c.*139+108_*139+109insGGTGGC ENSP00000432140.1:n.*139+108_*139+109insGGTGGC
ENST00000527251.5:c.*139+108_*139+109insGGTGGC ENSP00000434360.1:n.*139+108_*139+109insGGTGGC
ENST00000529766.5:n.439+108_439+109insGGTGGC
ENST00000529953.5:n.84+108_84+109insGGTGGC
ENST00000529955.5:n.450+108_450+109insGGTGGC
ENST00000532908.5:c.*139+108_*139+109insGGTGGC ENSP00000431866.1:n.*139+108_*139+109insGGTGGC
ENST00000533430.5:n.210+108_210+109insGGTGGC
ENST00000533557.5:c.*139+108_*139+109insGGTGGC ENSP00000434619.1:n.*139+108_*139+109insGGTGGC
ENST00000533644.5:c.432+108_432+109insGGTGGC ENSP00000436073.1:n.432+108_432+109insGGTGGC
ENST00000534730.5:n.444+108_444+109insGGTGGC
ENST00000630659.2:c.*139+108_*139+109insGGTGGC ENSP00000486455.1:n.*139+108_*139+109insGGTGGC
NM_024649.4:c.432+108_432+109insGGTGGC NP_078925.3:n.432+108_432+109insGGTGGC
NM_024649.5:c.432+108_432+109insGGTGGC MANE Select NP_078925.3:n.432+108_432+109insGGTGGC