Canonical Allele Identifier: CA2695214784

Gene: BBS1

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.66514670del , CM000673.2:g.66514670del	GRCh38
NC_000011.9:g.66282141del , CM000673.1:g.66282141del	GRCh37
NC_000011.8:g.66038717del	NCBI36
NG_009093.1:g.9023del

Transcript Alleles

HGVS	Amino-acid change
ENST00000318312.12:c.424del MANE Select	ENSP00000317469.7:p.Ala142ProfsTer9
ENST00000318312.11:c.424del	ENSP00000317469.7:p.Ala142ProfsTer9
ENST00000393994.4:c.424del	ENSP00000377563.2:p.Ala142ProfsTer9
ENST00000419755.3:c.535del	ENSP00000398526.3:p.Ala179ProfsTer9
ENST00000455748.6:c.424del	ENSP00000405764.2:p.Ala142ProfsTer4
ENST00000524458.5:c.*131del	ENSP00000436195.1:n.*131del
ENST00000524705.2:c.145del	ENSP00000436927.1:p.Ala49ProfsTer9
ENST00000524907.5:n.414del
ENST00000525809.5:c.160-870del	ENSP00000431187.1:n.160-870del
ENST00000526035.5:c.*131del	ENSP00000434197.1:n.*131del
ENST00000526760.5:c.*131del	ENSP00000432140.1:n.*131del
ENST00000527251.5:c.*131del	ENSP00000434360.1:n.*131del
ENST00000529766.5:n.431del
ENST00000529953.5:n.76del
ENST00000529955.5:n.442del
ENST00000532908.5:c.*131del	ENSP00000431866.1:n.*131del
ENST00000533430.5:n.202del
ENST00000533557.5:c.*131del	ENSP00000434619.1:n.*131del
ENST00000533644.5:c.424del	ENSP00000436073.1:p.Ala142ProfsTer?
ENST00000534730.5:n.436del
ENST00000630659.2:c.*131del	ENSP00000486455.1:n.*131del
NM_024649.4:c.424del	NP_078925.3:p.Ala142ProfsTer9
NM_024649.5:c.424del MANE Select	NP_078925.3:p.Ala142ProfsTer9