Canonical Allele Identifier: CA1979718494
Gene: BBS1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.66515616_66515620delinsCCTCA , CM000673.2:g.66515616_66515620delinsCCTCA GRCh38
NC_000011.9:g.66283087_66283091delinsCCTCA , CM000673.1:g.66283087_66283091delinsCCTCA GRCh37
NC_000011.8:g.66039663_66039667delinsCCTCA NCBI36
NG_009093.1:g.9969_9973delinsCCTCA

Transcript Alleles

HGVS Amino-acid change
ENST00000318312.12:c.479+30_479+34delinsCCTCA MANE Select ENSP00000317469.7:n.479+30_479+34delinsCC...
ENST00000318312.11:c.479+30_479+34delinsCCTCA ENSP00000317469.7:n.479+30_479+34delinsCC...
ENST00000393994.4:c.479+30_479+34delinsCCTCA ENSP00000377563.2:n.479+30_479+34delinsCC...
ENST00000419755.3:c.590+30_590+34delinsCCTCA ENSP00000398526.3:n.590+30_590+34delinsCC...
ENST00000455748.6:c.432+938_432+942delinsCCTCA ENSP00000405764.2:n.432+938_432+942delins...
ENST00000524458.5:c.*140-77_*140-73delinsCCTCA ENSP00000436195.1:n.*140-77_*140-73delins...
ENST00000524907.5:n.499_503delinsCCTCA
ENST00000525809.5:c.206+30_206+34delinsCCTCA ENSP00000431187.1:n.206+30_206+34delinsCC...
ENST00000526035.5:c.*186+30_*186+34delinsCCTCA ENSP00000434197.1:n.*186+30_*186+34delins...
ENST00000526760.5:c.*186+30_*186+34delinsCCTCA ENSP00000432140.1:n.*186+30_*186+34delins...
ENST00000527251.5:c.*186+30_*186+34delinsCCTCA ENSP00000434360.1:n.*186+30_*186+34delins...
ENST00000529766.5:n.486+30_486+34delinsCCTCA
ENST00000529953.5:n.131+30_131+34delinsCCTCA
ENST00000529955.5:n.451-77_451-73delinsCCTCA
ENST00000532908.5:c.*140-77_*140-73delinsCCTCA ENSP00000431866.1:n.*140-77_*140-73delins...
ENST00000533430.5:n.257+30_257+34delinsCCTCA
ENST00000533557.5:c.*140-77_*140-73delinsCCTCA ENSP00000434619.1:n.*140-77_*140-73delins...
ENST00000533644.5:c.433-77_433-73delinsCCTCA ENSP00000436073.1:n.433-77_433-73delinsCC...
ENST00000534730.5:n.491+30_491+34delinsCCTCA
ENST00000630659.2:c.*186+30_*186+34delinsCCTCA ENSP00000486455.1:n.*186+30_*186+34delins...
NM_024649.4:c.479+30_479+34delinsCCTCA NP_078925.3:n.479+30_479+34delinsCCTCA
NM_024649.5:c.479+30_479+34delinsCCTCA MANE Select NP_078925.3:n.479+30_479+34delinsCCTCA