Canonical Allele Identifier: CA2614499060

Gene: BBS1

Linked Data

• gnomAD v4: 11-66515729-CAGGTAAGGACCCTGTGGAGGGCCAGGGTTTGGGAGGCTCCAGGGAGAGGAAGCAGCCGCCAGAATGTGCCAGAATGATGGAGGAGGGCAGCGAGGCCGGGGCCTGCAGATGCCAGTTCTCTGTGTGTCT-C

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.66515734_66515862del , CM000673.2:g.66515734_66515862del	GRCh38
NC_000011.9:g.66283205_66283333del , CM000673.1:g.66283205_66283333del	GRCh37
NC_000011.8:g.66039781_66039909del	NCBI36
NG_009093.1:g.10087_10215del

Transcript Alleles

HGVS	Amino-acid change
ENST00000318312.12:c.518+3_520del
ENST00000318312.11:c.518+3_520del
ENST00000393994.4:c.518+3_520del
ENST00000419755.3:c.629+3_631del
ENST00000455748.6:c.432+1056_432+1184del	ENSP00000405764.2:n.432+1056_432+1184del
ENST00000524458.5:c.*181_*309del	ENSP00000436195.1:n.*181_*309del
ENST00000524907.5:n.614+3_616del
ENST00000525809.5:c.245+3_247del
ENST00000526035.5:c.*225+3_*227del
ENST00000526760.5:c.*225+3_*227del
ENST00000527251.5:c.*225+3_*227del
ENST00000528543.1:n.40+3_42del
ENST00000529766.5:n.525+3_527del
ENST00000529953.5:n.170+3_172del
ENST00000529955.5:n.489+3_491del
ENST00000532908.5:c.*178+3_*180del
ENST00000533430.5:n.296+3_298del
ENST00000533557.5:c.*178+3_*180del
ENST00000533644.5:c.471+3_473del
ENST00000630659.2:c.*225+3_*227del
NM_024649.4:c.518+3_520del
NM_024649.5:c.518+3_520del