Canonical Allele Identifier: CA938989277

Gene: BBS1

Linked Data

• gnomAD v3: 11-66514837-C-CTTTTT
• gnomAD v4: 11-66514837-C-CTTTTT

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.66514837_66514838insTTTTT , CM000673.2:g.66514837_66514838insTTTTT	GRCh38
NC_000011.9:g.66282308_66282309insTTTTT , CM000673.1:g.66282308_66282309insTTTTT	GRCh37
NC_000011.8:g.66038884_66038885insTTTTT	NCBI36
NG_009093.1:g.9190_9191insTTTTT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000318312.12:c.432+159_432+160insTTTTT MANE Select	ENSP00000317469.7:n.432+159_432+160insTTTTT
ENST00000318312.11:c.432+159_432+160insTTTTT	ENSP00000317469.7:n.432+159_432+160insTTTTT
ENST00000393994.4:c.432+159_432+160insTTTTT	ENSP00000377563.2:n.432+159_432+160insTTTTT
ENST00000419755.3:c.543+159_543+160insTTTTT	ENSP00000398526.3:n.543+159_543+160insTTTTT
ENST00000455748.6:c.432+159_432+160insTTTTT	ENSP00000405764.2:n.432+159_432+160insTTTTT
ENST00000524458.5:c.*139+159_*139+160insTTTTT	ENSP00000436195.1:n.*139+159_*139+160insTTTTT
ENST00000524705.2:c.153+159_153+160insTTTTT	ENSP00000436927.1:n.153+159_153+160insTTTTT
ENST00000524907.5:n.422+159_422+160insTTTTT
ENST00000525809.5:c.160-703_160-702insTTTTT	ENSP00000431187.1:n.160-703_160-702insTTTTT
ENST00000526035.5:c.*139+159_*139+160insTTTTT	ENSP00000434197.1:n.*139+159_*139+160insTTTTT
ENST00000526760.5:c.*139+159_*139+160insTTTTT	ENSP00000432140.1:n.*139+159_*139+160insTTTTT
ENST00000527251.5:c.*139+159_*139+160insTTTTT	ENSP00000434360.1:n.*139+159_*139+160insTTTTT
ENST00000529766.5:n.439+159_439+160insTTTTT
ENST00000529953.5:n.84+159_84+160insTTTTT
ENST00000529955.5:n.450+159_450+160insTTTTT
ENST00000532908.5:c.*139+159_*139+160insTTTTT	ENSP00000431866.1:n.*139+159_*139+160insTTTTT
ENST00000533430.5:n.210+159_210+160insTTTTT
ENST00000533557.5:c.*139+159_*139+160insTTTTT	ENSP00000434619.1:n.*139+159_*139+160insTTTTT
ENST00000533644.5:c.432+159_432+160insTTTTT	ENSP00000436073.1:n.432+159_432+160insTTTTT
ENST00000534730.5:n.444+159_444+160insTTTTT
ENST00000630659.2:c.*139+159_*139+160insTTTTT	ENSP00000486455.1:n.*139+159_*139+160insTTTTT
NM_024649.4:c.432+159_432+160insTTTTT	NP_078925.3:n.432+159_432+160insTTTTT
NM_024649.5:c.432+159_432+160insTTTTT MANE Select	NP_078925.3:n.432+159_432+160insTTTTT