Canonical Allele Identifier: CA2614499067

Gene: BBS1

Linked Data

• gnomAD v4: 11-66515786-C-CGCCAGAATGT

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.66515796_66515805dup , CM000673.2:g.66515796_66515805dup	GRCh38
NC_000011.9:g.66283267_66283276dup , CM000673.1:g.66283267_66283276dup	GRCh37
NC_000011.8:g.66039843_66039852dup	NCBI36
NG_009093.1:g.10149_10158dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000318312.12:c.519-65_519-56dup MANE Select	ENSP00000317469.7:n.519-65_519-56dup
ENST00000318312.11:c.519-65_519-56dup	ENSP00000317469.7:n.519-65_519-56dup
ENST00000393994.4:c.519-65_519-56dup	ENSP00000377563.2:n.519-65_519-56dup
ENST00000419755.3:c.630-65_630-56dup	ENSP00000398526.3:n.630-65_630-56dup
ENST00000455748.6:c.432+1118_432+1127dup	ENSP00000405764.2:n.432+1118_432+1127dup
ENST00000524458.5:c.*243_*252dup	ENSP00000436195.1:n.*243_*252dup
ENST00000524907.5:n.615-65_615-56dup
ENST00000525809.5:c.246-65_246-56dup	ENSP00000431187.1:n.246-65_246-56dup
ENST00000526035.5:c.*226-65_*226-56dup	ENSP00000434197.1:n.*226-65_*226-56dup
ENST00000526760.5:c.*226-65_*226-56dup	ENSP00000432140.1:n.*226-65_*226-56dup
ENST00000527251.5:c.*226-65_*226-56dup	ENSP00000434360.1:n.*226-65_*226-56dup
ENST00000528543.1:n.41-65_41-56dup
ENST00000529766.5:n.526-65_526-56dup
ENST00000529953.5:n.171-65_171-56dup
ENST00000529955.5:n.490-65_490-56dup
ENST00000532908.5:c.*179-65_*179-56dup	ENSP00000431866.1:n.*179-65_*179-56dup
ENST00000533430.5:n.297-65_297-56dup
ENST00000533557.5:c.*179-65_*179-56dup	ENSP00000434619.1:n.*179-65_*179-56dup
ENST00000533644.5:c.472-65_472-56dup	ENSP00000436073.1:n.472-65_472-56dup
ENST00000534730.5:n.595_604dup
ENST00000630659.2:c.*226-65_*226-56dup	ENSP00000486455.1:n.*226-65_*226-56dup
NM_024649.4:c.519-65_519-56dup	NP_078925.3:n.519-65_519-56dup
NM_024649.5:c.519-65_519-56dup MANE Select	NP_078925.3:n.519-65_519-56dup