Canonical Allele Identifier: CA679422794
Gene: BBS1 HGNC NCBI

Linked Data

dbSNP Id: rs1157944575

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.66514960_66514961insTGGGATC , CM000673.2:g.66514960_66514961insTGGGATC GRCh38
NC_000011.9:g.66282431_66282432insTGGGATC , CM000673.1:g.66282431_66282432insTGGGATC GRCh37
NC_000011.8:g.66039007_66039008insTGGGATC NCBI36
NG_009093.1:g.9313_9314insTGGGATC

Transcript Alleles

HGVS Amino-acid Change
ENST00000318312.12:c.432+282_432+283insTGGGATC MANE Select ENSP00000317469.7:n.432+282_432+283insTGGGATC
ENST00000318312.11:c.432+282_432+283insTGGGATC ENSP00000317469.7:n.432+282_432+283insTGGGATC
ENST00000393994.4:c.432+282_432+283insTGGGATC ENSP00000377563.2:n.432+282_432+283insTGGGATC
ENST00000419755.3:c.543+282_543+283insTGGGATC ENSP00000398526.3:n.543+282_543+283insTGGGATC
ENST00000455748.6:c.432+282_432+283insTGGGATC ENSP00000405764.2:n.432+282_432+283insTGGGATC
ENST00000524458.5:c.*139+282_*139+283insTGGGATC ENSP00000436195.1:n.*139+282_*139+283insTGGGATC
ENST00000524705.2:c.153+282_153+283insTGGGATC ENSP00000436927.1:n.153+282_153+283insTGGGATC
ENST00000524907.5:n.422+282_422+283insTGGGATC
ENST00000525809.5:c.160-580_160-579insTGGGATC ENSP00000431187.1:n.160-580_160-579insTGGGATC
ENST00000526035.5:c.*139+282_*139+283insTGGGATC ENSP00000434197.1:n.*139+282_*139+283insTGGGATC
ENST00000526760.5:c.*139+282_*139+283insTGGGATC ENSP00000432140.1:n.*139+282_*139+283insTGGGATC
ENST00000527251.5:c.*139+282_*139+283insTGGGATC ENSP00000434360.1:n.*139+282_*139+283insTGGGATC
ENST00000529766.5:n.439+282_439+283insTGGGATC
ENST00000529953.5:n.84+282_84+283insTGGGATC
ENST00000529955.5:n.450+282_450+283insTGGGATC
ENST00000532908.5:c.*139+282_*139+283insTGGGATC ENSP00000431866.1:n.*139+282_*139+283insTGGGATC
ENST00000533430.5:n.210+282_210+283insTGGGATC
ENST00000533557.5:c.*139+282_*139+283insTGGGATC ENSP00000434619.1:n.*139+282_*139+283insTGGGATC
ENST00000533644.5:c.432+282_432+283insTGGGATC ENSP00000436073.1:n.432+282_432+283insTGGGATC
ENST00000534730.5:n.444+282_444+283insTGGGATC
ENST00000630659.2:c.*139+282_*139+283insTGGGATC ENSP00000486455.1:n.*139+282_*139+283insTGGGATC
NM_024649.4:c.432+282_432+283insTGGGATC NP_078925.3:n.432+282_432+283insTGGGATC
NM_024649.5:c.432+282_432+283insTGGGATC MANE Select NP_078925.3:n.432+282_432+283insTGGGATC