Canonical Allele Identifier: CA599875434

Gene: BBS1

Linked Data

• dbSNP Id: rs1565281966
• gnomAD v2: 11-66283087-CCTCA-C
• gnomAD v4: 11-66515616-CCTCA-C
• MyVariant Identifiers: chr11:g.66283088_66283091del (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.66515620_66515623del , CM000673.2:g.66515620_66515623del	GRCh38
NC_000011.9:g.66283091_66283094del , CM000673.1:g.66283091_66283094del	GRCh37
NC_000011.8:g.66039667_66039670del	NCBI36
NG_009093.1:g.9973_9976del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000318312.12:c.479+34_479+37del MANE Select	ENSP00000317469.7:n.479+34_479+37del
ENST00000318312.11:c.479+34_479+37del	ENSP00000317469.7:n.479+34_479+37del
ENST00000393994.4:c.479+34_479+37del	ENSP00000377563.2:n.479+34_479+37del
ENST00000419755.3:c.590+34_590+37del	ENSP00000398526.3:n.590+34_590+37del
ENST00000455748.6:c.432+942_432+945del	ENSP00000405764.2:n.432+942_432+945del
ENST00000524458.5:c.*140-73_*140-70del	ENSP00000436195.1:n.*140-73_*140-70del
ENST00000524907.5:n.503_506del
ENST00000525809.5:c.206+34_206+37del	ENSP00000431187.1:n.206+34_206+37del
ENST00000526035.5:c.*186+34_*186+37del	ENSP00000434197.1:n.*186+34_*186+37del
ENST00000526760.5:c.*186+34_*186+37del	ENSP00000432140.1:n.*186+34_*186+37del
ENST00000527251.5:c.*186+34_*186+37del	ENSP00000434360.1:n.*186+34_*186+37del
ENST00000529766.5:n.486+34_486+37del
ENST00000529953.5:n.131+34_131+37del
ENST00000529955.5:n.451-73_451-70del
ENST00000532908.5:c.*140-73_*140-70del	ENSP00000431866.1:n.*140-73_*140-70del
ENST00000533430.5:n.257+34_257+37del
ENST00000533557.5:c.*140-73_*140-70del	ENSP00000434619.1:n.*140-73_*140-70del
ENST00000533644.5:c.433-73_433-70del	ENSP00000436073.1:n.433-73_433-70del
ENST00000534730.5:n.491+34_491+37del
ENST00000630659.2:c.*186+34_*186+37del	ENSP00000486455.1:n.*186+34_*186+37del
NM_024649.4:c.479+34_479+37del	NP_078925.3:n.479+34_479+37del
NM_024649.5:c.479+34_479+37del MANE Select	NP_078925.3:n.479+34_479+37del