Canonical Allele Identifier: CA938989017

Gene: BBS1

Linked Data

• dbSNP Id: rs1856008576
• gnomAD v3: 11-66514485-GCCCGCTA-G
• gnomAD v4: 11-66514485-GCCCGCTA-G

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.66514488_66514494del , CM000673.2:g.66514488_66514494del	GRCh38
NC_000011.9:g.66281959_66281965del , CM000673.1:g.66281959_66281965del	GRCh37
NC_000011.8:g.66038535_66038541del	NCBI36
NG_009093.1:g.8841_8847del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000318312.12:c.242_248del MANE Select	ENSP00000317469.7:p.Pro81LeufsTer?
ENST00000318312.11:c.242_248del	ENSP00000317469.7:p.Pro81LeufsTer?
ENST00000393994.4:c.242_248del	ENSP00000377563.2:p.Pro81LeufsTer?
ENST00000419755.3:c.353_359del	ENSP00000398526.3:p.Pro118LeufsTer?
ENST00000455748.6:c.242_248del	ENSP00000405764.2:p.Pro81LeufsTer?
ENST00000524458.5:c.117_123del	ENSP00000436195.1:p.Thr41LeufsTer?
ENST00000524705.2:c.-20-18_-20-12del	ENSP00000436927.1:n.-20-18_-20-12del
ENST00000524907.5:n.232_238del
ENST00000525809.5:c.160-1052_160-1046del	ENSP00000431187.1:n.160-1052_160-1046del
ENST00000526035.5:c.207_213del	ENSP00000434197.1:p.Thr71LeufsTer?
ENST00000526760.5:c.207_213del	ENSP00000432140.1:p.Thr71LeufsTer?
ENST00000526815.5:c.152_158del	ENSP00000436860.1:p.Pro51LeufsTer?
ENST00000527251.5:c.117_123del	ENSP00000434360.1:p.Thr41LeufsTer?
ENST00000529766.5:n.249_255del
ENST00000529955.5:n.260_266del
ENST00000532908.5:c.207_213del	ENSP00000431866.1:p.Thr71LeufsTer?
ENST00000533430.5:n.20_26del
ENST00000533557.5:c.207_213del	ENSP00000434619.1:p.Thr71LeufsTer?
ENST00000533644.5:c.242_248del	ENSP00000436073.1:p.Pro81LeufsTer?
ENST00000534730.5:n.254_260del
ENST00000630659.2:c.207_213del	ENSP00000486455.1:p.Thr71LeufsTer?
NM_024649.4:c.242_248del	NP_078925.3:p.Pro81LeufsTer?
NM_024649.5:c.242_248del MANE Select	NP_078925.3:p.Pro81LeufsTer?