Canonical Allele Identifier: CA2614497959

Gene: BBS1

Linked Data

• gnomAD v4: 11-66514312-A-ATC

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.66514312_66514313insTC , CM000673.2:g.66514312_66514313insTC	GRCh38
NC_000011.9:g.66281783_66281784insTC , CM000673.1:g.66281783_66281784insTC	GRCh37
NC_000011.8:g.66038359_66038360insTC	NCBI36
NG_009093.1:g.8665_8666insTC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000318312.12:c.160-94_160-93insTC MANE Select	ENSP00000317469.7:n.160-94_160-93insTC
ENST00000318312.11:c.160-94_160-93insTC	ENSP00000317469.7:n.160-94_160-93insTC
ENST00000393994.4:c.160-94_160-93insTC	ENSP00000377563.2:n.160-94_160-93insTC
ENST00000419755.3:c.271-94_271-93insTC	ENSP00000398526.3:n.271-94_271-93insTC
ENST00000455748.6:c.160-94_160-93insTC	ENSP00000405764.2:n.160-94_160-93insTC
ENST00000524458.5:c.35-94_35-93insTC	ENSP00000436195.1:n.35-94_35-93insTC
ENST00000524705.2:c.-20-194_-20-193insTC	ENSP00000436927.1:n.-20-194_-20-193insTC
ENST00000524907.5:n.150-94_150-93insTC
ENST00000525809.5:c.160-1228_160-1227insTC	ENSP00000431187.1:n.160-1228_160-1227insTC
ENST00000526035.5:c.125-94_125-93insTC	ENSP00000434197.1:n.125-94_125-93insTC
ENST00000526760.5:c.125-94_125-93insTC	ENSP00000432140.1:n.125-94_125-93insTC
ENST00000526815.5:c.70-94_70-93insTC	ENSP00000436860.1:n.70-94_70-93insTC
ENST00000527251.5:c.35-94_35-93insTC	ENSP00000434360.1:n.35-94_35-93insTC
ENST00000529766.5:n.167-94_167-93insTC
ENST00000529955.5:n.178-94_178-93insTC
ENST00000532908.5:c.125-94_125-93insTC	ENSP00000431866.1:n.125-94_125-93insTC
ENST00000533557.5:c.125-94_125-93insTC	ENSP00000434619.1:n.125-94_125-93insTC
ENST00000533644.5:c.160-94_160-93insTC	ENSP00000436073.1:n.160-94_160-93insTC
ENST00000534730.5:n.172-94_172-93insTC
ENST00000630659.2:c.125-94_125-93insTC	ENSP00000486455.1:n.125-94_125-93insTC
NM_024649.4:c.160-94_160-93insTC	NP_078925.3:n.160-94_160-93insTC
NM_024649.5:c.160-94_160-93insTC MANE Select	NP_078925.3:n.160-94_160-93insTC