Canonical Allele Identifier: CA1979716772

Gene: BBS1

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.66514547_66514549delinsACC , CM000673.2:g.66514547_66514549delinsACC	GRCh38
NC_000011.9:g.66282018_66282020delinsACC , CM000673.1:g.66282018_66282020delinsACC	GRCh37
NC_000011.8:g.66038594_66038596delinsACC	NCBI36
NG_009093.1:g.8900_8902delinsACC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000318312.12:c.301_303delinsACC MANE Select	ENSP00000317469.7:p.Thr101=
ENST00000318312.11:c.301_303delinsACC	ENSP00000317469.7:p.Thr101=
ENST00000393994.4:c.301_303delinsACC	ENSP00000377563.2:p.Thr101=
ENST00000419755.3:c.412_414delinsACC	ENSP00000398526.3:p.Thr138=
ENST00000455748.6:c.301_303delinsACC	ENSP00000405764.2:p.Thr101=
ENST00000524458.5:c.*8_*10delinsACC	ENSP00000436195.1:n.*8_*10delinsACC
ENST00000524705.2:c.22_24delinsACC	ENSP00000436927.1:p.Thr8=
ENST00000524907.5:n.291_293delinsACC
ENST00000525809.5:c.160-993_160-991delinsACC	ENSP00000431187.1:n.160-993_160-991delinsACC
ENST00000526035.5:c.*8_*10delinsACC	ENSP00000434197.1:n.*8_*10delinsACC
ENST00000526760.5:c.*8_*10delinsACC	ENSP00000432140.1:n.*8_*10delinsACC
ENST00000527251.5:c.*8_*10delinsACC	ENSP00000434360.1:n.*8_*10delinsACC
ENST00000529766.5:n.308_310delinsACC
ENST00000529955.5:n.319_321delinsACC
ENST00000532908.5:c.*8_*10delinsACC	ENSP00000431866.1:n.*8_*10delinsACC
ENST00000533430.5:n.79_81delinsACC
ENST00000533557.5:c.*8_*10delinsACC	ENSP00000434619.1:n.*8_*10delinsACC
ENST00000533644.5:c.301_303delinsACC	ENSP00000436073.1:p.Thr101=
ENST00000534730.5:n.313_315delinsACC
ENST00000630659.2:c.*8_*10delinsACC	ENSP00000486455.1:n.*8_*10delinsACC
NM_024649.4:c.301_303delinsACC	NP_078925.3:p.Thr101=
NM_024649.5:c.301_303delinsACC MANE Select	NP_078925.3:p.Thr101=