Canonical Allele Identifier: CA1979717575
Gene: BBS1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.66514998_66514999delinsAG , CM000673.2:g.66514998_66514999delinsAG GRCh38
NC_000011.9:g.66282469_66282470delinsAG , CM000673.1:g.66282469_66282470delinsAG GRCh37
NC_000011.8:g.66039045_66039046delinsAG NCBI36
NG_009093.1:g.9351_9352delinsAG

Transcript Alleles

HGVS Amino-acid Change
ENST00000318312.12:c.432+320_432+321delinsAG MANE Select ENSP00000317469.7:n.432+320_432+321delinsAG
ENST00000318312.11:c.432+320_432+321delinsAG ENSP00000317469.7:n.432+320_432+321delinsAG
ENST00000393994.4:c.432+320_432+321delinsAG ENSP00000377563.2:n.432+320_432+321delinsAG
ENST00000419755.3:c.543+320_543+321delinsAG ENSP00000398526.3:n.543+320_543+321delinsAG
ENST00000455748.6:c.432+320_432+321delinsAG ENSP00000405764.2:n.432+320_432+321delinsAG
ENST00000524458.5:c.*139+320_*139+321delinsAG ENSP00000436195.1:n.*139+320_*139+321delinsAG
ENST00000524705.2:c.153+320_153+321delinsAG ENSP00000436927.1:n.153+320_153+321delinsAG
ENST00000524907.5:n.422+320_422+321delinsAG
ENST00000525809.5:c.160-542_160-541delinsAG ENSP00000431187.1:n.160-542_160-541delinsAG
ENST00000526035.5:c.*139+320_*139+321delinsAG ENSP00000434197.1:n.*139+320_*139+321delinsAG
ENST00000526760.5:c.*139+320_*139+321delinsAG ENSP00000432140.1:n.*139+320_*139+321delinsAG
ENST00000527251.5:c.*139+320_*139+321delinsAG ENSP00000434360.1:n.*139+320_*139+321delinsAG
ENST00000529766.5:n.439+320_439+321delinsAG
ENST00000529953.5:n.84+320_84+321delinsAG
ENST00000529955.5:n.450+320_450+321delinsAG
ENST00000532908.5:c.*139+320_*139+321delinsAG ENSP00000431866.1:n.*139+320_*139+321delinsAG
ENST00000533430.5:n.210+320_210+321delinsAG
ENST00000533557.5:c.*139+320_*139+321delinsAG ENSP00000434619.1:n.*139+320_*139+321delinsAG
ENST00000533644.5:c.432+320_432+321delinsAG ENSP00000436073.1:n.432+320_432+321delinsAG
ENST00000534730.5:n.444+320_444+321delinsAG
ENST00000630659.2:c.*139+320_*139+321delinsAG ENSP00000486455.1:n.*139+320_*139+321delinsAG
NM_024649.4:c.432+320_432+321delinsAG NP_078925.3:n.432+320_432+321delinsAG
NM_024649.5:c.432+320_432+321delinsAG MANE Select NP_078925.3:n.432+320_432+321delinsAG