Canonical Allele Identifier: CA938988901

Gene: BBS1

Linked Data

• dbSNP Id: rs1856004652
• gnomAD v3: 11-66514270-GGC-G
• gnomAD v4: 11-66514270-GGC-G

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.66514271_66514272del , CM000673.2:g.66514271_66514272del	GRCh38
NC_000011.9:g.66281742_66281743del , CM000673.1:g.66281742_66281743del	GRCh37
NC_000011.8:g.66038318_66038319del	NCBI36
NG_009093.1:g.8624_8625del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000318312.12:c.160-135_160-134del MANE Select	ENSP00000317469.7:n.160-135_160-134del
ENST00000318312.11:c.160-135_160-134del	ENSP00000317469.7:n.160-135_160-134del
ENST00000393994.4:c.160-135_160-134del	ENSP00000377563.2:n.160-135_160-134del
ENST00000419755.3:c.271-135_271-134del	ENSP00000398526.3:n.271-135_271-134del
ENST00000455748.6:c.160-135_160-134del	ENSP00000405764.2:n.160-135_160-134del
ENST00000524458.5:c.35-135_35-134del	ENSP00000436195.1:n.35-135_35-134del
ENST00000524705.2:c.-20-235_-20-234del	ENSP00000436927.1:n.-20-235_-20-234del
ENST00000524907.5:n.150-135_150-134del
ENST00000525809.5:c.160-1269_160-1268del	ENSP00000431187.1:n.160-1269_160-1268del
ENST00000526035.5:c.125-135_125-134del	ENSP00000434197.1:n.125-135_125-134del
ENST00000526760.5:c.125-135_125-134del	ENSP00000432140.1:n.125-135_125-134del
ENST00000526815.5:c.70-135_70-134del	ENSP00000436860.1:n.70-135_70-134del
ENST00000527251.5:c.35-135_35-134del	ENSP00000434360.1:n.35-135_35-134del
ENST00000529766.5:n.167-135_167-134del
ENST00000529955.5:n.178-135_178-134del
ENST00000532908.5:c.125-135_125-134del	ENSP00000431866.1:n.125-135_125-134del
ENST00000533557.5:c.125-135_125-134del	ENSP00000434619.1:n.125-135_125-134del
ENST00000533644.5:c.160-135_160-134del	ENSP00000436073.1:n.160-135_160-134del
ENST00000534730.5:n.172-135_172-134del
ENST00000630659.2:c.125-135_125-134del	ENSP00000486455.1:n.125-135_125-134del
NM_024649.4:c.160-135_160-134del	NP_078925.3:n.160-135_160-134del
NM_024649.5:c.160-135_160-134del MANE Select	NP_078925.3:n.160-135_160-134del