Canonical Allele Identifier: CA600232463

Gene: BBS1

Linked Data

• dbSNP Id: rs1237823797
• gnomAD v2: 11-66281861-C-CA
• gnomAD v4: 11-66514390-C-CA
• MyVariant Identifiers: chr11:g.66281861_66281862insA (hg19) ; chr11:g.66514390_66514391insA (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.66514391dup , CM000673.2:g.66514391dup	GRCh38
NC_000011.9:g.66281862dup , CM000673.1:g.66281862dup	GRCh37
NC_000011.8:g.66038438dup	NCBI36
NG_009093.1:g.8744dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000318312.12:c.160-15dup MANE Select	ENSP00000317469.7:n.160-15dup
ENST00000318312.11:c.160-15dup	ENSP00000317469.7:n.160-15dup
ENST00000393994.4:c.160-15dup	ENSP00000377563.2:n.160-15dup
ENST00000419755.3:c.271-15dup	ENSP00000398526.3:n.271-15dup
ENST00000455748.6:c.160-15dup	ENSP00000405764.2:n.160-15dup
ENST00000524458.5:c.35-15dup	ENSP00000436195.1:n.35-15dup
ENST00000524705.2:c.-20-115dup	ENSP00000436927.1:n.-20-115dup
ENST00000524907.5:n.150-15dup
ENST00000525809.5:c.160-1149dup	ENSP00000431187.1:n.160-1149dup
ENST00000526035.5:c.125-15dup	ENSP00000434197.1:n.125-15dup
ENST00000526760.5:c.125-15dup	ENSP00000432140.1:n.125-15dup
ENST00000526815.5:c.70-15dup	ENSP00000436860.1:n.70-15dup
ENST00000527251.5:c.35-15dup	ENSP00000434360.1:n.35-15dup
ENST00000529766.5:n.167-15dup
ENST00000529955.5:n.178-15dup
ENST00000532908.5:c.125-15dup	ENSP00000431866.1:n.125-15dup
ENST00000533557.5:c.125-15dup	ENSP00000434619.1:n.125-15dup
ENST00000533644.5:c.160-15dup	ENSP00000436073.1:n.160-15dup
ENST00000534730.5:n.172-15dup
ENST00000630659.2:c.125-15dup	ENSP00000486455.1:n.125-15dup
NM_024649.4:c.160-15dup	NP_078925.3:n.160-15dup
NM_024649.5:c.160-15dup MANE Select	NP_078925.3:n.160-15dup