Canonical Allele Identifier: CA938989288

Gene: BBS1

Linked Data

• dbSNP Id: rs1856015227
• gnomAD v3: 11-66514841-GTT-G
• gnomAD v4: 11-66514841-GTT-G

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.66514843_66514844del , CM000673.2:g.66514843_66514844del	GRCh38
NC_000011.9:g.66282314_66282315del , CM000673.1:g.66282314_66282315del	GRCh37
NC_000011.8:g.66038890_66038891del	NCBI36
NG_009093.1:g.9196_9197del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000318312.12:c.432+165_432+166del MANE Select	ENSP00000317469.7:n.432+165_432+166del
ENST00000318312.11:c.432+165_432+166del	ENSP00000317469.7:n.432+165_432+166del
ENST00000393994.4:c.432+165_432+166del	ENSP00000377563.2:n.432+165_432+166del
ENST00000419755.3:c.543+165_543+166del	ENSP00000398526.3:n.543+165_543+166del
ENST00000455748.6:c.432+165_432+166del	ENSP00000405764.2:n.432+165_432+166del
ENST00000524458.5:c.*139+165_*139+166del	ENSP00000436195.1:n.*139+165_*139+166del
ENST00000524705.2:c.153+165_153+166del	ENSP00000436927.1:n.153+165_153+166del
ENST00000524907.5:n.422+165_422+166del
ENST00000525809.5:c.160-697_160-696del	ENSP00000431187.1:n.160-697_160-696del
ENST00000526035.5:c.*139+165_*139+166del	ENSP00000434197.1:n.*139+165_*139+166del
ENST00000526760.5:c.*139+165_*139+166del	ENSP00000432140.1:n.*139+165_*139+166del
ENST00000527251.5:c.*139+165_*139+166del	ENSP00000434360.1:n.*139+165_*139+166del
ENST00000529766.5:n.439+165_439+166del
ENST00000529953.5:n.84+165_84+166del
ENST00000529955.5:n.450+165_450+166del
ENST00000532908.5:c.*139+165_*139+166del	ENSP00000431866.1:n.*139+165_*139+166del
ENST00000533430.5:n.210+165_210+166del
ENST00000533557.5:c.*139+165_*139+166del	ENSP00000434619.1:n.*139+165_*139+166del
ENST00000533644.5:c.432+165_432+166del	ENSP00000436073.1:n.432+165_432+166del
ENST00000534730.5:n.444+165_444+166del
ENST00000630659.2:c.*139+165_*139+166del	ENSP00000486455.1:n.*139+165_*139+166del
NM_024649.4:c.432+165_432+166del	NP_078925.3:n.432+165_432+166del
NM_024649.5:c.432+165_432+166del MANE Select	NP_078925.3:n.432+165_432+166del