Canonical Allele Identifier: CA2614499031

Gene: BBS1

Linked Data

• gnomAD v4: 11-66515503-G-A

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.66515503G>A , CM000673.2:g.66515503G>A	GRCh38
NC_000011.9:g.66282974G>A , CM000673.1:g.66282974G>A	GRCh37
NC_000011.8:g.66039550G>A	NCBI36
NG_009093.1:g.9856G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000318312.12:c.433-37G>A MANE Select	ENSP00000317469.7:n.433-37G>A
ENST00000318312.11:c.433-37G>A	ENSP00000317469.7:n.433-37G>A
ENST00000393994.4:c.433-37G>A	ENSP00000377563.2:n.433-37G>A
ENST00000419755.3:c.544-37G>A	ENSP00000398526.3:n.544-37G>A
ENST00000455748.6:c.432+825G>A	ENSP00000405764.2:n.432+825G>A
ENST00000524458.5:c.*140-190G>A	ENSP00000436195.1:n.*140-190G>A
ENST00000524705.2:c.154-37G>A	ENSP00000436927.1:n.154-37G>A
ENST00000524907.5:n.423-37G>A
ENST00000525809.5:c.160-37G>A	ENSP00000431187.1:n.160-37G>A
ENST00000526035.5:c.*140-37G>A	ENSP00000434197.1:n.*140-37G>A
ENST00000526760.5:c.*140-37G>A	ENSP00000432140.1:n.*140-37G>A
ENST00000527251.5:c.*140-37G>A	ENSP00000434360.1:n.*140-37G>A
ENST00000529766.5:n.440-37G>A
ENST00000529953.5:n.85-37G>A
ENST00000529955.5:n.451-190G>A
ENST00000532908.5:c.*140-190G>A	ENSP00000431866.1:n.*140-190G>A
ENST00000533430.5:n.211-37G>A
ENST00000533557.5:c.*140-190G>A	ENSP00000434619.1:n.*140-190G>A
ENST00000533644.5:c.433-190G>A	ENSP00000436073.1:n.433-190G>A
ENST00000534730.5:n.445-37G>A
ENST00000630659.2:c.*140-37G>A	ENSP00000486455.1:n.*140-37G>A
NM_024649.4:c.433-37G>A	NP_078925.3:n.433-37G>A
NM_024649.5:c.433-37G>A MANE Select	NP_078925.3:n.433-37G>A