Canonical Allele Identifier: CA1979716452

Gene: BBS1

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.66514429_66514430delinsTG , CM000673.2:g.66514429_66514430delinsTG	GRCh38
NC_000011.9:g.66281900_66281901delinsTG , CM000673.1:g.66281900_66281901delinsTG	GRCh37
NC_000011.8:g.66038476_66038477delinsTG	NCBI36
NG_009093.1:g.8782_8783delinsTG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000318312.12:c.183_184delinsTG MANE Select	ENSP00000317469.7:p.Pro61=
ENST00000318312.11:c.183_184delinsTG	ENSP00000317469.7:p.Pro61=
ENST00000393994.4:c.183_184delinsTG	ENSP00000377563.2:p.Pro61=
ENST00000419755.3:c.294_295delinsTG	ENSP00000398526.3:p.Pro98=
ENST00000455748.6:c.183_184delinsTG	ENSP00000405764.2:p.Pro61=
ENST00000524458.5:c.58_59delinsTG	ENSP00000436195.1:p.Trp20=
ENST00000524705.2:c.-20-77_-20-76delinsTG	ENSP00000436927.1:n.-20-77_-20-76delinsTG
ENST00000524907.5:n.173_174delinsTG
ENST00000525809.5:c.160-1111_160-1110delinsTG	ENSP00000431187.1:n.160-1111_160-1110delinsTG
ENST00000526035.5:c.148_149delinsTG	ENSP00000434197.1:p.Trp50=
ENST00000526760.5:c.148_149delinsTG	ENSP00000432140.1:p.Trp50=
ENST00000526815.5:c.93_94delinsTG	ENSP00000436860.1:p.Pro31=
ENST00000527251.5:c.58_59delinsTG	ENSP00000434360.1:p.Trp20=
ENST00000529766.5:n.190_191delinsTG
ENST00000529955.5:n.201_202delinsTG
ENST00000532908.5:c.148_149delinsTG	ENSP00000431866.1:p.Trp50=
ENST00000533557.5:c.148_149delinsTG	ENSP00000434619.1:p.Trp50=
ENST00000533644.5:c.183_184delinsTG	ENSP00000436073.1:p.Pro61=
ENST00000534730.5:n.195_196delinsTG
ENST00000630659.2:c.148_149delinsTG	ENSP00000486455.1:p.Trp50=
NM_024649.4:c.183_184delinsTG	NP_078925.3:p.Pro61=
NM_024649.5:c.183_184delinsTG MANE Select	NP_078925.3:p.Pro61=