Canonical Allele Identifier: CA679422807

Gene: BBS1

Linked Data

• dbSNP Id: rs1284110546
• MyVariant Identifiers: chr11:g.66282461_66282462del (hg19) ; chr11:g.66514990_66514991del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.66514991_66514992del , CM000673.2:g.66514991_66514992del	GRCh38
NC_000011.9:g.66282462_66282463del , CM000673.1:g.66282462_66282463del	GRCh37
NC_000011.8:g.66039038_66039039del	NCBI36
NG_009093.1:g.9344_9345del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000318312.12:c.432+313_432+314del MANE Select	ENSP00000317469.7:n.432+313_432+314del
ENST00000318312.11:c.432+313_432+314del	ENSP00000317469.7:n.432+313_432+314del
ENST00000393994.4:c.432+313_432+314del	ENSP00000377563.2:n.432+313_432+314del
ENST00000419755.3:c.543+313_543+314del	ENSP00000398526.3:n.543+313_543+314del
ENST00000455748.6:c.432+313_432+314del	ENSP00000405764.2:n.432+313_432+314del
ENST00000524458.5:c.*139+313_*139+314del	ENSP00000436195.1:n.*139+313_*139+314del
ENST00000524705.2:c.153+313_153+314del	ENSP00000436927.1:n.153+313_153+314del
ENST00000524907.5:n.422+313_422+314del
ENST00000525809.5:c.160-549_160-548del	ENSP00000431187.1:n.160-549_160-548del
ENST00000526035.5:c.*139+313_*139+314del	ENSP00000434197.1:n.*139+313_*139+314del
ENST00000526760.5:c.*139+313_*139+314del	ENSP00000432140.1:n.*139+313_*139+314del
ENST00000527251.5:c.*139+313_*139+314del	ENSP00000434360.1:n.*139+313_*139+314del
ENST00000529766.5:n.439+313_439+314del
ENST00000529953.5:n.84+313_84+314del
ENST00000529955.5:n.450+313_450+314del
ENST00000532908.5:c.*139+313_*139+314del	ENSP00000431866.1:n.*139+313_*139+314del
ENST00000533430.5:n.210+313_210+314del
ENST00000533557.5:c.*139+313_*139+314del	ENSP00000434619.1:n.*139+313_*139+314del
ENST00000533644.5:c.432+313_432+314del	ENSP00000436073.1:n.432+313_432+314del
ENST00000534730.5:n.444+313_444+314del
ENST00000630659.2:c.*139+313_*139+314del	ENSP00000486455.1:n.*139+313_*139+314del
NM_024649.4:c.432+313_432+314del	NP_078925.3:n.432+313_432+314del
NM_024649.5:c.432+313_432+314del MANE Select	NP_078925.3:n.432+313_432+314del