Canonical Allele Identifier: CA16041521
Gene: BBS1 HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 370389
ClinVar RCV Id: RCV000412002
dbSNP Id: rs1057516451

User contributed link-outs

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.66514469_66514470del , CM000673.2:g.66514469_66514470del GRCh38
NC_000011.9:g.66281940_66281941del , CM000673.1:g.66281940_66281941del GRCh37
NC_000011.8:g.66038516_66038517del NCBI36
NG_009093.1:g.8822_8823del

Transcript Alleles

HGVS Amino-acid change
NM_024649.4:c.223_224del VV NP_078925.3:p.Leu75GlyfsTer23
ENST00000318312.11:c.223_224del ENSP00000317469.7:p.Leu75GlyfsTer23
ENST00000393994.4:c.223_224del ENSP00000377563.2:p.Leu75GlyfsTer23
ENST00000419755.3:c.334_335del ENSP00000398526.3:p.Leu112GlyfsTer23
ENST00000455748.6:c.223_224del ENSP00000405764.2:p.Leu75GlyfsTer23
ENST00000524458.5:c.98_99del ENSP00000436195.1:p.Thr33ArgfsTer2
ENST00000524705.2:c.-20-37_-20-36del ENSP00000436927.1:p.=
ENST00000524907.5:n.213_214del
ENST00000525809.5:c.160-1071_160-1070del ENSP00000431187.1:p.=
ENST00000526035.5:c.188_189del ENSP00000434197.1:p.Thr63ArgfsTer2
ENST00000526760.5:c.188_189del ENSP00000432140.1:p.Thr63ArgfsTer2
ENST00000526815.5:c.133_134del ENSP00000436860.1:p.Leu45GlyfsTer?
ENST00000527251.5:c.98_99del ENSP00000434360.1:p.Thr33ArgfsTer2
ENST00000529766.5:n.230_231del
ENST00000529955.5:n.241_242del
ENST00000532908.5:c.188_189del ENSP00000431866.1:p.Thr63ArgfsTer2
ENST00000533430.5:n.1_2del
ENST00000533557.5:c.188_189del ENSP00000434619.1:p.Thr63ArgfsTer2
ENST00000533644.5:c.223_224del ENSP00000436073.1:p.Leu75GlyfsTer23
ENST00000534730.5:n.235_236del
ENST00000630659.2:c.188_189del ENSP00000486455.1:p.Thr63ArgfsTer2