Canonical Allele Identifier: CA475368413

Gene: BBS1

Linked Data

• MyVariant Identifiers: chr11:g.66282983_66282984del (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.66515514_66515515del , CM000673.2:g.66515514_66515515del	GRCh38
NC_000011.9:g.66282985_66282986del , CM000673.1:g.66282985_66282986del	GRCh37
NC_000011.8:g.66039561_66039562del	NCBI36
NG_009093.1:g.9867_9868del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000318312.12:c.433-26_433-25del MANE Select	ENSP00000317469.7:n.433-26_433-25del
ENST00000318312.11:c.433-26_433-25del	ENSP00000317469.7:n.433-26_433-25del
ENST00000393994.4:c.433-26_433-25del	ENSP00000377563.2:n.433-26_433-25del
ENST00000419755.3:c.544-26_544-25del	ENSP00000398526.3:n.544-26_544-25del
ENST00000455748.6:c.432+836_432+837del	ENSP00000405764.2:n.432+836_432+837del
ENST00000524458.5:c.*140-179_*140-178del	ENSP00000436195.1:n.*140-179_*140-178del
ENST00000524705.2:c.154-26_154-25del	ENSP00000436927.1:n.154-26_154-25del
ENST00000524907.5:n.423-26_423-25del
ENST00000525809.5:c.160-26_160-25del	ENSP00000431187.1:n.160-26_160-25del
ENST00000526035.5:c.*140-26_*140-25del	ENSP00000434197.1:n.*140-26_*140-25del
ENST00000526760.5:c.*140-26_*140-25del	ENSP00000432140.1:n.*140-26_*140-25del
ENST00000527251.5:c.*140-26_*140-25del	ENSP00000434360.1:n.*140-26_*140-25del
ENST00000529766.5:n.440-26_440-25del
ENST00000529953.5:n.85-26_85-25del
ENST00000529955.5:n.451-179_451-178del
ENST00000532908.5:c.*140-179_*140-178del	ENSP00000431866.1:n.*140-179_*140-178del
ENST00000533430.5:n.211-26_211-25del
ENST00000533557.5:c.*140-179_*140-178del	ENSP00000434619.1:n.*140-179_*140-178del
ENST00000533644.5:c.433-179_433-178del	ENSP00000436073.1:n.433-179_433-178del
ENST00000534730.5:n.445-26_445-25del
ENST00000630659.2:c.*140-26_*140-25del	ENSP00000486455.1:n.*140-26_*140-25del
NM_024649.4:c.433-26_433-25del	NP_078925.3:n.433-26_433-25del
NM_024649.5:c.433-26_433-25del MANE Select	NP_078925.3:n.433-26_433-25del