Canonical Allele Identifier: CA2614497886

Gene: BBS1

Linked Data

• gnomAD v4: 11-66514290-GCA-G

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.66514291_66514292del , CM000673.2:g.66514291_66514292del	GRCh38
NC_000011.9:g.66281762_66281763del , CM000673.1:g.66281762_66281763del	GRCh37
NC_000011.8:g.66038338_66038339del	NCBI36
NG_009093.1:g.8644_8645del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000318312.12:c.160-115_160-114del MANE Select	ENSP00000317469.7:n.160-115_160-114del
ENST00000318312.11:c.160-115_160-114del	ENSP00000317469.7:n.160-115_160-114del
ENST00000393994.4:c.160-115_160-114del	ENSP00000377563.2:n.160-115_160-114del
ENST00000419755.3:c.271-115_271-114del	ENSP00000398526.3:n.271-115_271-114del
ENST00000455748.6:c.160-115_160-114del	ENSP00000405764.2:n.160-115_160-114del
ENST00000524458.5:c.35-115_35-114del	ENSP00000436195.1:n.35-115_35-114del
ENST00000524705.2:c.-20-215_-20-214del	ENSP00000436927.1:n.-20-215_-20-214del
ENST00000524907.5:n.150-115_150-114del
ENST00000525809.5:c.160-1249_160-1248del	ENSP00000431187.1:n.160-1249_160-1248del
ENST00000526035.5:c.125-115_125-114del	ENSP00000434197.1:n.125-115_125-114del
ENST00000526760.5:c.125-115_125-114del	ENSP00000432140.1:n.125-115_125-114del
ENST00000526815.5:c.70-115_70-114del	ENSP00000436860.1:n.70-115_70-114del
ENST00000527251.5:c.35-115_35-114del	ENSP00000434360.1:n.35-115_35-114del
ENST00000529766.5:n.167-115_167-114del
ENST00000529955.5:n.178-115_178-114del
ENST00000532908.5:c.125-115_125-114del	ENSP00000431866.1:n.125-115_125-114del
ENST00000533557.5:c.125-115_125-114del	ENSP00000434619.1:n.125-115_125-114del
ENST00000533644.5:c.160-115_160-114del	ENSP00000436073.1:n.160-115_160-114del
ENST00000534730.5:n.172-115_172-114del
ENST00000630659.2:c.125-115_125-114del	ENSP00000486455.1:n.125-115_125-114del
NM_024649.4:c.160-115_160-114del	NP_078925.3:n.160-115_160-114del
NM_024649.5:c.160-115_160-114del MANE Select	NP_078925.3:n.160-115_160-114del