Canonical Allele Identifier: CA1979718659

Gene: BBS1

Linked Data

• ClinVar Variation Id: 3017279
• ClinVar RCV Id: RCV003871398
• dbSNP Id: rs1856035514

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.66515694del , CM000673.2:g.66515694del	GRCh38
NC_000011.9:g.66283165del , CM000673.1:g.66283165del	GRCh37
NC_000011.8:g.66039741del	NCBI36
NG_009093.1:g.10047del

Transcript Alleles

HGVS	Amino-acid change
ENST00000318312.12:c.481del
ENST00000318312.11:c.481del
ENST00000393994.4:c.481del
ENST00000419755.3:c.592del
ENST00000455748.6:c.432+1016del	ENSP00000405764.2:n.432+1016del
ENST00000524458.5:c.*141del
ENST00000524907.5:n.577del
ENST00000525809.5:c.208del
ENST00000526035.5:c.*188del
ENST00000526760.5:c.*188del
ENST00000527251.5:c.*188del
ENST00000528543.1:n.3del
ENST00000529766.5:n.488del
ENST00000529953.5:n.133del
ENST00000529955.5:n.452del
ENST00000532908.5:c.*141del
ENST00000533430.5:n.259del
ENST00000533557.5:c.*141del
ENST00000533644.5:c.434del
ENST00000534730.5:n.493del
ENST00000630659.2:c.*188del
NM_024649.4:c.481del
NM_024649.5:c.481del