Canonical Allele Identifier: CA1979716430

Gene: BBS1

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.66514425_66514426delinsGC , CM000673.2:g.66514425_66514426delinsGC	GRCh38
NC_000011.9:g.66281896_66281897delinsGC , CM000673.1:g.66281896_66281897delinsGC	GRCh37
NC_000011.8:g.66038472_66038473delinsGC	NCBI36
NG_009093.1:g.8778_8779delinsGC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000318312.12:c.179_180delinsGC MANE Select	ENSP00000317469.7:p.Gly60=
ENST00000318312.11:c.179_180delinsGC	ENSP00000317469.7:p.Gly60=
ENST00000393994.4:c.179_180delinsGC	ENSP00000377563.2:p.Gly60=
ENST00000419755.3:c.290_291delinsGC	ENSP00000398526.3:p.Gly97=
ENST00000455748.6:c.179_180delinsGC	ENSP00000405764.2:p.Gly60=
ENST00000524458.5:c.54_55delinsGC	ENSP00000436195.1:p.Trp18=
ENST00000524705.2:c.-20-81_-20-80delinsGC	ENSP00000436927.1:n.-20-81_-20-80delinsGC
ENST00000524907.5:n.169_170delinsGC
ENST00000525809.5:c.160-1115_160-1114delinsGC	ENSP00000431187.1:n.160-1115_160-1114delinsGC
ENST00000526035.5:c.144_145delinsGC	ENSP00000434197.1:p.Trp48=
ENST00000526760.5:c.144_145delinsGC	ENSP00000432140.1:p.Trp48=
ENST00000526815.5:c.89_90delinsGC	ENSP00000436860.1:p.Gly30=
ENST00000527251.5:c.54_55delinsGC	ENSP00000434360.1:p.Trp18=
ENST00000529766.5:n.186_187delinsGC
ENST00000529955.5:n.197_198delinsGC
ENST00000532908.5:c.144_145delinsGC	ENSP00000431866.1:p.Trp48=
ENST00000533557.5:c.144_145delinsGC	ENSP00000434619.1:p.Trp48=
ENST00000533644.5:c.179_180delinsGC	ENSP00000436073.1:p.Gly60=
ENST00000534730.5:n.191_192delinsGC
ENST00000630659.2:c.144_145delinsGC	ENSP00000486455.1:p.Trp48=
NM_024649.4:c.179_180delinsGC	NP_078925.3:p.Gly60=
NM_024649.5:c.179_180delinsGC MANE Select	NP_078925.3:p.Gly60=