Canonical Allele Identifier: CA658797687

Gene: BBS1 ZDHHC24

Linked Data

• ClinVar Variation Id: 522419
• ClinVar RCV Id: RCV000625559
• dbSNP Id: rs1555047786
• MyVariant Identifiers: chr11:g.66288794del (hg19) ; chr11:g.66521323del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.66521323del , CM000673.2:g.66521323del	GRCh38
NC_000011.9:g.66288794del , CM000673.1:g.66288794del	GRCh37
NC_000011.8:g.66045370del	NCBI36
NG_009093.1:g.15676del

Transcript Alleles

HGVS	Amino-acid change
ENST00000318312.12:c.777del (BBS1) MANE Select	ENSP00000317469.7:p.Glu260SerfsTer16
ENST00000318312.11:c.777del (BBS1)	ENSP00000317469.7:p.Glu260SerfsTer16
ENST00000393994.4:c.723+1575del (BBS1)	ENSP00000377563.2:n.723+1575del
ENST00000419755.3:c.888del	ENSP00000398526.3:p.Glu297SerfsTer16
ENST00000455748.6:c.486del (BBS1)	ENSP00000405764.2:p.Glu163SerfsTer16
ENST00000524458.5:c.*566del (BBS1)	ENSP00000436195.1:n.*566del
ENST00000525809.5:c.504del (BBS1)	ENSP00000431187.1:p.Glu169SerfsTer16
ENST00000526035.5:c.*480del (BBS1)	ENSP00000434197.1:n.*480del
ENST00000526760.5:c.*484del (BBS1)	ENSP00000432140.1:n.*484del
ENST00000526986.5:c.*166del (ZDHHC24)	ENSP00000431321.1:n.*166del
ENST00000529766.5:n.784del (BBS1)
ENST00000529955.5:n.748del (BBS1)
ENST00000532908.5:c.*437del (BBS1)	ENSP00000431866.1:n.*437del
ENST00000533430.5:n.555del (BBS1)
ENST00000533557.5:c.*437del (BBS1)	ENSP00000434619.1:n.*437del
ENST00000533644.5:c.*235del (BBS1)	ENSP00000436073.1:n.*235del
ENST00000534073.5:c.*288del (ZDHHC24)	ENSP00000436503.1:n.*288del
ENST00000630659.2:c.*484del (BBS1)	ENSP00000486455.1:n.*484del
NM_024649.4:c.777del (BBS1)	NP_078925.3:p.Glu260SerfsTer16
NM_001348571.1:c.*166del (ZDHHC24)	NP_001335500.1:n.*166del
XR_001747823.2:n.1007del (ZDHHC24)
XR_949860.3:n.1078del (ZDHHC24)
NM_024649.5:c.777del (BBS1) MANE Select	NP_078925.3:p.Glu260SerfsTer16
NM_001348571.2:c.*166del (ZDHHC24)	NP_001335500.1:n.*166del